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2026

Spreading α-synuclein rewires organelle communication and impairs neuron–astrocyte mitochondrial quality control.
Fritsch, Elisabeth ORCID logoORCID: https://orcid.org/0000-0002-4207-0395, Horvatovic, Kamelija ORCID logoORCID: https://orcid.org/0000-0002-3424-1326, Santos Otte, Paula ORCID logoORCID: https://orcid.org/0009-0009-4556-0574, Koudelka, Tomas ORCID logoORCID: https://orcid.org/0009-0008-2895-6051, Rossius, Jana ORCID logoORCID: https://orcid.org/0009-0000-6011-9714, Braeuning, Caroline ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Breimann, Laura ORCID logoORCID: https://orcid.org/0000-0001-7702-5749, Piazza, Ilaria ORCID logoORCID: https://orcid.org/0000-0001-5895-6134 and Birol, Melissa ORCID logoORCID: https://orcid.org/0000-0003-3397-8446
bioRxiv : 2026.06.19.733342. 23 June 2026

circVDJ-seq for T cell clonotype detection in single-cell and spatial multi-omics.
Plumbom, Izabela ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Obermayer, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-9116-630X, Raspe, Raphael, Pascual-Reguant, Anna, Theurillat, Ilan ORCID logoORCID: https://orcid.org/0000-0002-1125-1951, Pentimalli, Tancredi Massimo ORCID logoORCID: https://orcid.org/0000-0002-8461-7918, Hsieh, Yu-Hsin ORCID logoORCID: https://orcid.org/0000-0003-3037-8728, Gil, Marine ORCID logoORCID: https://orcid.org/0000-0002-3885-7806, Dietrich, Carola, Seeger-Zografakis, Michaela, Quedenau, Claudia ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Wilde, Jeannine, Braeuning, Caroline ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Fischer, Cornelius ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Schuelke, Markus ORCID logoORCID: https://orcid.org/0000-0003-2824-3891, Seitz, Volkhard, Ludwig, Leif S. ORCID logoORCID: https://orcid.org/0000-0002-2916-2164, Eggert, Angelika, Rajewsky, Nikolaus ORCID logoORCID: https://orcid.org/0000-0002-4785-4332, Borodina, Tatiana ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Beule, Dieter ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Altmueller, Janine ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Radbruch, Helena ORCID logoORCID: https://orcid.org/0000-0001-6941-3397, Hauser, Anja Erika and Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295
Genome Medicine 18 (1): 84. 11 June 2026

Unraveling the single-cell spatial landscapes of melanoma brain metastases.
Manukyan, Artür ORCID logoORCID: https://orcid.org/0000-0002-0441-9517, Peters, Kristin, Radbruch, Helena ORCID logoORCID: https://orcid.org/0000-0001-6941-3397, Fusco, Federico, Geserick, Felicitas, Rossner, Florian, Lehmann, Annika, Kleo, Karsten ORCID logoORCID: https://orcid.org/0000-0001-9136-6902, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Altmüller, Janine ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Plumbom, Izabela ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Akalin, Altuna ORCID logoORCID: https://orcid.org/0000-0002-0468-0117, Jürchott, Karsten, Wyler, Emanuel ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Landthaler, Markus ORCID logoORCID: https://orcid.org/0000-0002-1075-8734, Delbridge, Claire, Sendler, Matthias, Radke, Josefine ORCID logoORCID: https://orcid.org/0000-0001-9860-2007 and Redmer, Torben ORCID logoORCID: https://orcid.org/0000-0002-0050-9478
medRxiv : 2025.08.29.25334740v3. 3 June 2026

Spermidine mitigates immune cell senescence and boosts vaccine responses in healthy older adults -- a pilot study.
Alsaleh, Ghada, Ali, Mohammad ORCID logoORCID: https://orcid.org/0000-0003-0170-7182, Kayvanjoo, Amir Hossein ORCID logoORCID: https://orcid.org/0000-0003-1315-8336, Liu, Feng, Moreau, Tanaïs, Bibi, Sagida, Luo, Lin, Govender, Melissa, Carroll, Miles, Hofer, Sebastian J., Tobias, Eisenberg, Magnes, Christoph, Kell, Loren ORCID logoORCID: https://orcid.org/0000-0003-1322-2027, Chung, Christopher, Deng, Yu, Bhandari, Aneesha, Garner, Lucy ORCID logoORCID: https://orcid.org/0000-0002-6461-252X, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Chen, Liye, Kronsteiner-Dobramysl, Barbara, Dunachie, Susie, Spiller, Owen B. ORCID logoORCID: https://orcid.org/0000-0002-9117-6911, Lambe, Teresa, Klenerman, Paul, Jones, Lucy C. and Simon, A. Katharina ORCID logoORCID: https://orcid.org/0000-0002-4077-7995
Aging Cell 25 (6): e70545. June 2026

Endothelial YAP/TAZ rewiring under cardiometabolic stress drives sex-divergent vascular remodeling in heart failure with preserved ejection fraction.
Klaus-Bergmann, Alexandra ORCID logoORCID: https://orcid.org/0000-0002-1164-3322, Sievers, Laura Katharina ORCID logoORCID: https://orcid.org/0000-0002-4677-5181, Versnjak, Jakob, Koch, Katharina, Nawara, Tomasz ORCID logoORCID: https://orcid.org/0000-0002-4801-4095, Bartels-Klein, Eireen, Popp, Oliver ORCID logoORCID: https://orcid.org/0000-0001-6240-4666, Weiner 3rd, January ORCID logoORCID: https://orcid.org/0000-0003-1438-7819, Meier, Katja, Hollfinger, Irene ORCID logoORCID: https://orcid.org/0000-0002-6233-8395, Kamer, Ilona, Taube, Martin, Heuser, Arnd ORCID logoORCID: https://orcid.org/0000-0002-3334-960X, Borodina, Tatiana ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Beule, Dieter ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Potente, Michael ORCID logoORCID: https://orcid.org/0000-0002-5689-0036, Landmesser, Ulf ORCID logoORCID: https://orcid.org/0000-0002-0214-3203, Mertins, Philipp ORCID logoORCID: https://orcid.org/0000-0002-2245-528X, Kelm, Marcus, Muller, Dominik N. ORCID logoORCID: https://orcid.org/0000-0003-3650-5644 and Gerhardt, Holger ORCID logoORCID: https://orcid.org/0000-0002-3030-0384
bioRxiv : 2026.05.07.723127. 13 May 2026

Epithelial mesenchymal transition initiates precancer states in BRCA1 mutation carriers.
Bar-Hai, Neta, Ben-Yishay, Rakefet, Arbili-Yarhi, Sheli, Bernstein-Molho, Rinat, Goldinger, Gil, Balint-Lahat, Nora, Menes, Tehillah, Herman, Naama, Noy, Vered, Mansour, Aiham, Globus, Opher, Hilman, Pnina, Zehavi, Yonathan, Eizenberg-Magar, Inbal, Mahammadov, Elmir ORCID logoORCID: https://orcid.org/0000-0003-0008-1413, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Rajewsky, Nikolaus ORCID logoORCID: https://orcid.org/0000-0002-4785-4332, Antebi, Yaron E., Berger, Raanan and Ishay-Ronen, Dana ORCID logoORCID: https://orcid.org/0000-0003-0425-1408
bioRxiv : 2026.05.06.723061. 11 May 2026

CACNB3 defects are associated with infantile idiopathic nystagmus.
Jüschke, Christoph ORCID logoORCID: https://orcid.org/0000-0001-5842-4824, Linsel, Kira, Owczarek-Lipska, Marta, Brandt, Nicola ORCID logoORCID: https://orcid.org/0000-0003-2483-9292, Zunken, Sarah, Altmüller, Janine ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Preising, Markus N. ORCID logoORCID: https://orcid.org/0000-0002-1596-5978, Kastrati, Dennis, Thiele, Holger, Thomas, Mervyn G., Nürnberg, Peter ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Lorenz, Birgit, Kellner, Ulrich ORCID logoORCID: https://orcid.org/0000-0001-5221-4631, Bräuer, Anja U. ORCID logoORCID: https://orcid.org/0000-0003-3651-1470, Korenke, G. Christoph, Gottlob, Irene and Neidhardt, John ORCID logoORCID: https://orcid.org/0000-0002-9205-8394
Brain Communications 8 (2): fcag034. 7 February 2026

Injured epithelial cell states impact kidney allograft survival after T-cell-mediated rejection.
Pfefferkorn, Anna Maria ORCID logoORCID: https://orcid.org/0000-0002-7126-9838, Jahn, Lorenz ORCID logoORCID: https://orcid.org/0009-0003-4229-3059, Gauthier, Patrick T. ORCID logoORCID: https://orcid.org/0000-0002-6103-8307, Kulow, Vera Anna ORCID logoORCID: https://orcid.org/0000-0002-4226-6697, Roeles, Johannes, Müller-Bötticher, Niklas, Gerhardt, Louisa M.S., Leiz, Janna ORCID logoORCID: https://orcid.org/0000-0002-6531-7047, Sarfraz, Sadia, Plumbom, Izabela ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Greite, Robert, Lovric, Svjetlana ORCID logoORCID: https://orcid.org/0000-0003-3953-9794, Gamrekelashvili, Jaba ORCID logoORCID: https://orcid.org/0000-0001-7533-6906, Limbourg, Florian, Schmitz, Jessica ORCID logoORCID: https://orcid.org/0000-0001-9843-7339, Bräsen, Jan Hinrich ORCID logoORCID: https://orcid.org/0000-0002-2863-3067, Scheffner, Irina ORCID logoORCID: https://orcid.org/0000-0002-5930-1866, Sauer, Igor M. ORCID logoORCID: https://orcid.org/0000-0001-9355-937X, Aigner, Felix, Altmüller, Janine ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Gwinner, Wilfried ORCID logoORCID: https://orcid.org/0000-0003-1703-893X, Ishaque, Naveed ORCID logoORCID: https://orcid.org/0000-0002-8426-901X, Fähling, Michael ORCID logoORCID: https://orcid.org/0000-0003-1079-5049, Schmidt-Ott, Kai M. ORCID logoORCID: https://orcid.org/0000-0002-7700-7142, Halloran, Philip F., Ashraf, Muhammad Imtiaz ORCID logoORCID: https://orcid.org/0000-0002-6789-5393 and Hinze, Christian ORCID logoORCID: https://orcid.org/0000-0003-2526-1621
Nature Communications 17 (1): 1060. 28 January 2026

Complex human hear bearing skin organoids reveal cell type specific susceptibility and innate immune responses to Herpes Simplex Virus 1.
Wyler, Emanuel ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Albertini, Silvia ORCID logoORCID: https://orcid.org/0000-0002-8540-5378, Friedel, Caroline C. ORCID logoORCID: https://orcid.org/0000-0003-3569-4877, Manukyan, Artür ORCID logoORCID: https://orcid.org/0000-0002-0441-9517, Winterfeldt, Annalena, Bracker, Nina, Huang, Jiabin ORCID logoORCID: https://orcid.org/0000-0002-3480-7115, Krasemann, Susanne ORCID logoORCID: https://orcid.org/0000-0001-8795-818X, Plumbon, Izabela ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Altmüller, Janine ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Reimer, Rudolph, Schneider, Carola, Radbruch, Helena ORCID logoORCID: https://orcid.org/0000-0001-6941-3397, Hafezi, Wali, Hansen, Arne, Grundhoff, Adam ORCID logoORCID: https://orcid.org/0000-0003-0940-7045, Landthaler, Markus ORCID logoORCID: https://orcid.org/0000-0002-1075-8734, Fischer, Nicole ORCID logoORCID: https://orcid.org/0000-0002-5092-8179 and Czech-Sioli, Manja ORCID logoORCID: https://orcid.org/0000-0002-7720-3282
bioRxiv : 2025.02.10.637415v2. 12 January 2026

The dorsal aortic compartment is a developmental source of brown adipose tissue in mice.
Heider, Sophie ORCID logoORCID: https://orcid.org/0000-0003-4874-6971, Fischer, Cornelius ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Secener, Ali Kerim ORCID logoORCID: https://orcid.org/0000-0003-4806-2852, Vallecillo-Garcı́a, Pedro, Kotsaris, Georgios, Meisen, Zarah G., Pawolski, Verena, Giesecke-Thiel, Claudia ORCID logoORCID: https://orcid.org/0000-0002-5927-7018, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Schulz, Tim J. ORCID logoORCID: https://orcid.org/0000-0002-8413-3972, Sauer, Sascha ORCID logoORCID: https://orcid.org/0000-0002-4794-3693 and Stricker, Sigmar ORCID logoORCID: https://orcid.org/0000-0002-7174-5363
Nature Communications 17 (1): 286. 8 January 2026

2025

Generation of cirVDJseq libraries from 3’-barcoded cDNA v1.
Plumbom, Izabela ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Obermayer, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-9116-630X and Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295
protocols.io : protocols.io.q26g77zx1gwz/v1. 17 December 2025

AP1 is a pioneer transcription factor that programmes cell fate through MADS-domain protein tetramerisation.
Xu, Xiaocai ORCID logoORCID: https://orcid.org/0000-0002-2972-4251, Neumann, Manuel ORCID logoORCID: https://orcid.org/0000-0002-7883-0843, Carew, Frederic ORCID logoORCID: https://orcid.org/0009-0003-8387-7149, Chen, Peilin ORCID logoORCID: https://orcid.org/0000-0002-0498-8349, Braeuning, Caroline ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Zubieta, Chloe ORCID logoORCID: https://orcid.org/0000-0003-4558-9333, Muino, Jose M. ORCID logoORCID: https://orcid.org/0000-0002-6403-7262, Smaczniak, Cezary ORCID logoORCID: https://orcid.org/0000-0002-4663-8275 and Kaufmann, Kerstin ORCID logoORCID: https://orcid.org/0000-0001-7960-6256
Genome Biology 26 (1): 418. 9 December 2025

The dorsal aortic compartment is a developmental source of brown adipose tissue in mice.
Secener, Kerim ORCID logoORCID: https://orcid.org/0000-0003-4806-2852, Pöhle-Kronawitter, Sophie, Fischer, Cornelius ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Vallecillo García, Pedro, Kotsaris, Georgios, Pawolski, Verena, Giesecke-Thiel, Claudia, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Schulz, Tim J., Sauer, Sascha ORCID logoORCID: https://orcid.org/0000-0002-4794-3693 and Stricker, Sigmar
[Dataset] 2 December 2025

The deubiquitinase OTUD7B ameliorates central nervous system autoimmunity by inhibiting degradation of glial fibrillary acidic protein and astrocyte hyperinflammation.
Harit, K., Yi, W., Jeron, A., Schmidt, J., Beckervordersandfort-Bonk, R., Wyler, E. ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Plumbon, I., Manukyan, A. ORCID logoORCID: https://orcid.org/0000-0002-0441-9517, Deckert, M., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Landthaler, M. ORCID logoORCID: https://orcid.org/0000-0002-1075-8734, Radbruch, H. ORCID logoORCID: https://orcid.org/0000-0001-6941-3397, Wang, X., Nishanth, G. and Schlüter, D.
[Dataset] 1 December 2025

Astrocytic-OTUD7B ameliorates murine experimental autoimmune encephalomyelitis by stabilizing glial fibrillary acidic protein and preventing inflammation.
Harit, Kunjan, Yi, Wenjing, Jeron, Andreas, Schmidt, Jakob, Beckervordersandforth, Ruth ORCID logoORCID: https://orcid.org/0000-0002-3617-7567, Wyler, Emanuel ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Manukyan, Artür ORCID logoORCID: https://orcid.org/0000-0002-0441-9517, Deckert, Martina, Radbruch, Helena ORCID logoORCID: https://orcid.org/0000-0001-6941-3397, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Altmüller, Janine ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Landthaler, Markus ORCID logoORCID: https://orcid.org/0000-0002-1075-8734, Wang, Xu ORCID logoORCID: https://orcid.org/0000-0001-8428-9339, Nishanth, Gopala ORCID logoORCID: https://orcid.org/0000-0002-7280-5663 and Schlüter, Dirk ORCID logoORCID: https://orcid.org/0000-0003-1478-3328
Nature Communications 16 (1): 9279. 20 October 2025

Extended supplementary data for manuscript: Gene regulatory mechanisms of cellular memory of a single cocaine exposure in VTA dopaminergic neurons.
Zea-Redondo, Luna ORCID logoORCID: https://orcid.org/0000-0001-9064-9126, Franke, Vedran ORCID logoORCID: https://orcid.org/0000-0003-3606-6792, Paul, Eleanor J., Kukalev, Alexander ORCID logoORCID: https://orcid.org/0000-0001-5847-3773, Arguedas Jimenez, Laura ORCID logoORCID: https://orcid.org/0009-0004-2240-7781, Braeuning, Caroline ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Marin, Oscar, Akalin, Altuna ORCID logoORCID: https://orcid.org/0000-0002-0468-0117, Ungless, Mark A., Winick-Ng, Warren ORCID logoORCID: https://orcid.org/0000-0002-8716-5558 and Pombo, Ana ORCID logoORCID: https://orcid.org/0000-0002-7493-6288
[Dataset] 4 September 2025

Cellular dynamics and epidermal specialization during Arabidopsis floral development at single-cell resolution.
Chen, Siye ORCID logoORCID: https://orcid.org/0009-0001-3521-5955, Neumann, Manuel ORCID logoORCID: https://orcid.org/0000-0002-7883-0843, He, Zhaohui ORCID logoORCID: https://orcid.org/0000-0002-8976-9494, Carew, Frederic ORCID logoORCID: https://orcid.org/0009-0003-8387-7149, Smaczniak, Cezary ORCID logoORCID: https://orcid.org/0000-0002-4663-8275, Braeuning, Caroline ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Richter, Sarah, Zhang, Yingjue ORCID logoORCID: https://orcid.org/0009-0001-7787-131X, Zhou, Xinkai ORCID logoORCID: https://orcid.org/0000-0001-8791-294X and Kaufmann, Kerstin ORCID logoORCID: https://orcid.org/0000-0001-7960-6256
bioRxiv : 2025.09.01.672611. 1 September 2025

A clinically relevant morpho-molecular classification of lung neuroendocrine tumours.
Sexton-Oates, Alexandra, Mathian, Emilie, Candeli, Noah, Lim, Yuliya, Voegele, Catherine ORCID logoORCID: https://orcid.org/0000-0002-9592-8869, Di Genova, Alex ORCID logoORCID: https://orcid.org/0000-0002-3120-9283, Mange, Laurane ORCID logoORCID: https://orcid.org/0009-0007-8560-1364, Li, Zhaozhi, van Weert, Tijmen, Hillen, Lisa M., Blazquez-Encinas, Ricardo, Gonzalez-Perez, Abel, Morrison, Maike L. ORCID logoORCID: https://orcid.org/0000-0003-0430-1401, Lauricella, Eleonora, Mangiante, Lise ORCID logoORCID: https://orcid.org/0000-0001-8309-0950, Bonheme, Lisa, Moonen, Laura, Absenger, Gudrun, Altmuller, Janine ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Degletagne, Cyril, Brustugun, Odd Terje, Cahais, Vincent, Centonze, Giovanni, Chabrier, Amelie, Cuenin, Cyrille, Damiola, Francesca, de Montpreville, Vincent Thomas, Deleuze, Jean-Francois, Dingemans, Anne-Marie C., Fadel, Elie, Gadot, Nicolas, Ghantous, Akram, Graziano, Paolo, Hofman, Paul, Hofman, Veronique, Ibanez-Costa, Alejandro, Lacomme, Stephanie, Lopez-Bigas, Nuria, Lund-Iversen, Marius, Milione, Massimo, Muscarella, Lucia Anna, Pedraza-Arevalo, Sergio, Perrin, Corinne, Planchard, Gaetane, Popper, Helmut, Roz, Luca, Sparaneo, Angelo, Buikhuisen, Wieneke ORCID logoORCID: https://orcid.org/0000-0002-0799-7187, Van den Berg, Jose, Tesselaar, Margot, Kim, Jaehee, Speel, Ernst-Jan M., Tabone-Eglinger, Severine, Walter, Thomas, Wright, Gavin, Castano, Justo P., Chalabreysse, Lara, Chen, Liming, Caux, Christophe, Volante, Marco, Girard, Nicolas, Vignaud, Jean-Michel, Conde, Esther, Mansuet-Lupo, Audrey ORCID logoORCID: https://orcid.org/0000-0002-7196-2114, Brcic, Luka ORCID logoORCID: https://orcid.org/0000-0002-9098-8416, Pelosi, Giuseppe ORCID logoORCID: https://orcid.org/0000-0003-4725-4692, Papotti, Mauro, Lantuejoul, Sylvie, Derks, Jules, Dayton, Talya ORCID logoORCID: https://orcid.org/0000-0002-7994-7963, Alcala, Nicolas ORCID logoORCID: https://orcid.org/0000-0002-5961-5064, Foll, Matthieu ORCID logoORCID: https://orcid.org/0000-0001-9006-8436 and Fernandez-Cuesta, Lynnette ORCID logoORCID: https://orcid.org/0000-0002-9290-4589
medRxiv : 2025.07.18.25331556. 18 July 2025

Factor-H-related protein 1 (FHR1), a promotor of para-inflammation in age-related macular degeneration.
Sekulic, Andjela, Herr, Sarah M., Mulfaul, Kelly, Pompös, Inga-Marie ORCID logoORCID: https://orcid.org/0000-0001-9314-8378, Winkler, Silvia, Dietrich, Carola, Obermayer, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-9116-630X, Mullins, Robert F., Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Zipfel, Peter F., Sennlaub, Florian, Skerka, Christine and Strauß, Olaf
Journal of Neuroinflammation 22 (1): 173. 3 July 2025

Mapping CD4+ T cell diversity in CSF to identify endophenotypes of multiple sclerosis.
Crowley, T. ORCID logoORCID: https://orcid.org/0000-0002-1404-6005, Chen, J. ORCID logoORCID: https://orcid.org/0000-0002-4355-4121, Rosiewicz, K.S. ORCID logoORCID: https://orcid.org/0000-0002-6926-7227, Jopp-Saile, L. ORCID logoORCID: https://orcid.org/0000-0002-7032-3003, Herold, G., Biese, C., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Kerkering, J. ORCID logoORCID: https://orcid.org/0000-0002-6432-7104, Alisch, M. ORCID logoORCID: https://orcid.org/0009-0000-8316-6193, Paul, F. ORCID logoORCID: https://orcid.org/0000-0002-6378-0070 and Siffrin, V. ORCID logoORCID: https://orcid.org/0000-0002-1532-2868
Brain Communications 7 (3): fcaf231. 19 June 2025

A macrophage-predominant immunosuppressive microenvironment and therapeutic vulnerabilities in advanced salivary gland cancer.
Zuljan, E., von der Emde, B., Piwonski, I., Pestana, A., Klinghammer, K. ORCID logoORCID: https://orcid.org/0000-0001-6425-4833, Mock, A. ORCID logoORCID: https://orcid.org/0000-0002-3332-9166, Horak, P. ORCID logoORCID: https://orcid.org/0000-0003-4536-9306, Heining, C., Klauschen, F. ORCID logoORCID: https://orcid.org/0000-0002-9131-2389, Pretzell, I., Boerries, M. ORCID logoORCID: https://orcid.org/0000-0002-3670-0602, Brandts, C.H., Kreutzfeldt, S. ORCID logoORCID: https://orcid.org/0000-0003-3278-4586, Teleanu, M.V., Hübschmann, D. ORCID logoORCID: https://orcid.org/0000-0002-6041-7049, Morris, L.G.T. ORCID logoORCID: https://orcid.org/0000-0002-4417-2280, Heiland, M. ORCID logoORCID: https://orcid.org/0000-0002-4987-2913, Keller, U. ORCID logoORCID: https://orcid.org/0000-0002-8485-1958, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Glimm, H. ORCID logoORCID: https://orcid.org/0000-0003-4104-1135, Fröhling, S. ORCID logoORCID: https://orcid.org/0000-0001-7907-4595, Ochsenreither, S. ORCID logoORCID: https://orcid.org/0000-0001-6024-4312, Keilholz, U., Blanc, E. ORCID logoORCID: https://orcid.org/0000-0002-4369-0254, Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632 and Rieke, D.T. ORCID logoORCID: https://orcid.org/0000-0003-0027-7977
Nature Communications 16 (1): 5303. 12 June 2025

The IL-22–oncostatin M axis promotes intestinal inflammation and tumorigenesis.
Cineus, R. ORCID logoORCID: https://orcid.org/0000-0003-4393-5757, Luo, Y. ORCID logoORCID: https://orcid.org/0009-0003-0401-467X, Saliutina, M., Manna, S. ORCID logoORCID: https://orcid.org/0000-0003-2360-0618, Cancino, C.A., Velasco Blázquez, L., Wang, L., Bösel, D., Abdelrahman, A., Klementowicz, J.E., Scherl, A., Hainbuch, S., Bréart, B., Kwon, G., Konopka, A., Guerra, G.M., von Coburg, E. ORCID logoORCID: https://orcid.org/0009-0001-8546-8854, Gerbeth, Lo., Roels, J., Heinrich, F. ORCID logoORCID: https://orcid.org/0000-0001-6097-5422, Müller, N. ORCID logoORCID: https://orcid.org/0000-0003-1559-7711, Durek, P. ORCID logoORCID: https://orcid.org/0000-0002-6179-0670, Deigendesch, N. ORCID logoORCID: https://orcid.org/0000-0002-6036-3327, Ziai, J., Hung, J., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Kühl, A.A. ORCID logoORCID: https://orcid.org/0000-0003-2293-5387, Wirtz, S. ORCID logoORCID: https://orcid.org/0000-0001-6936-7431, Löhning, M. ORCID logoORCID: https://orcid.org/0000-0001-6382-7281, Keir, M. ORCID logoORCID: https://orcid.org/0000-0002-0637-4092, Diefenbach, A. ORCID logoORCID: https://orcid.org/0000-0002-9176-9530, Mashreghi, M.F. ORCID logoORCID: https://orcid.org/0000-0002-8015-6907, Siegmund, B. ORCID logoORCID: https://orcid.org/0000-0002-0055-958X, Schumann, M., Romagnani, C. ORCID logoORCID: https://orcid.org/0000-0002-5167-7463, West, N.R. and Hegazy, A.N. ORCID logoORCID: https://orcid.org/0000-0002-2946-8251
Nature Immunology 26 (6): 837-853. June 2025

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.
Bögershausen, N., Cavdarli, B., Nagai, T., Milev, M.P., Wolff, A., Mehranfar, M., Schmidt, J., Choudhary, D., Gutiérrez-Gutiérrez, Ó., Cyganek, L., Saint-Dic, D., Zibat, A., Köhrer, K., Wollenweber, T.E., Wieczorek, D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Kaçar, D., Haliloğlu, G., Li, Y., Thiel, C., Sacher, M., Knapik, E.W., Yigit, G. and Wollnik, B.
JCI Insight 10 (9): e173484. 8 May 2025

Senescent syncytiotrophoblast secretion during early onset preeclampsia.
Nonn, O. ORCID logoORCID: https://orcid.org/0000-0001-6385-2866, Debnath, O. ORCID logoORCID: https://orcid.org/0009-0009-2845-055X, Valdes, D.S. ORCID logoORCID: https://orcid.org/0000-0002-1309-5147, Sallinger, K., Secener, A.K. ORCID logoORCID: https://orcid.org/0000-0003-4806-2852, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Tiesmeyer, S. ORCID logoORCID: https://orcid.org/0000-0002-0492-1523, Nimo, J. ORCID logoORCID: https://orcid.org/0000-0002-1565-7799, Kuenzer, T. ORCID logoORCID: https://orcid.org/0000-0001-6882-1217, Ulrich, J., Maxian, T. ORCID logoORCID: https://orcid.org/0000-0002-8009-8479, Knöfler, M., Karau, P. ORCID logoORCID: https://orcid.org/0000-0001-6590-1975, Bartolomaeus, H. ORCID logoORCID: https://orcid.org/0000-0003-4288-3828, Kroneis, T. ORCID logoORCID: https://orcid.org/0000-0002-4761-9340, Frolova, A. ORCID logoORCID: https://orcid.org/0000-0001-5469-7366, Neuper, L., Haase, N. ORCID logoORCID: https://orcid.org/0000-0003-0727-1738, Malt, A. ORCID logoORCID: https://orcid.org/0009-0005-4049-0846, Müller-Bötticher, N. ORCID logoORCID: https://orcid.org/0000-0001-5103-7282, Kräker, K. ORCID logoORCID: https://orcid.org/0000-0002-4032-5382, Kedziora, S. ORCID logoORCID: https://orcid.org/0000-0003-0124-2557, Forstner, D. ORCID logoORCID: https://orcid.org/0000-0001-5451-7580, Eils, R., Schmidt-Ullrich, R. ORCID logoORCID: https://orcid.org/0000-0002-2472-6530, Haider, S. ORCID logoORCID: https://orcid.org/0000-0003-2409-1317, Verlohren, S. ORCID logoORCID: https://orcid.org/0000-0003-3507-8636, Stern, C. ORCID logoORCID: https://orcid.org/0000-0002-6330-1236, Sugulle, M. ORCID logoORCID: https://orcid.org/0000-0003-4160-3978, Jones, S. ORCID logoORCID: https://orcid.org/0000-0002-3106-6155, Thilaganathan, B. ORCID logoORCID: https://orcid.org/0000-0002-5531-4301, Kaitu'u-Lino, T.J. ORCID logoORCID: https://orcid.org/0000-0001-6233-9737, Tong, S., Huppertz, B. ORCID logoORCID: https://orcid.org/0000-0003-4814-2158, El-Heliebi, A. ORCID logoORCID: https://orcid.org/0000-0002-7679-6856, Staff, A.C. ORCID logoORCID: https://orcid.org/0000-0001-9247-5721, Coscia, F. ORCID logoORCID: https://orcid.org/0000-0002-2244-5081, Müller, D.N. ORCID logoORCID: https://orcid.org/0000-0003-3650-5644, Dechend, R. ORCID logoORCID: https://orcid.org/0000-0001-6636-3080, Gauster, M. ORCID logoORCID: https://orcid.org/0000-0003-0386-6857, Ishaque, N. ORCID logoORCID: https://orcid.org/0000-0002-8426-901X and Herse, F. ORCID logoORCID: https://orcid.org/0000-0002-9305-8134
Hypertension 82 (5): 787-799. May 2025

UBE3C links ubiquitin signaling to epitranscriptomic control of cortical neurogenesis.
Borisova, Ekaterina, Cuthill, Katherine J. ORCID logoORCID: https://orcid.org/0000-0003-3328-3249, Dannenberg, Rike, Koch, Janina, Nowaczyk, Julius ORCID logoORCID: https://orcid.org/0009-0009-7068-4958, Schaub, Theres, Schwark, Manuela ORCID logoORCID: https://orcid.org/0009-0008-1711-457X, Kastelic, N., Kupryianchyk-Schultz, I. ORCID logoORCID: https://orcid.org/0009-0007-6442-4469, Kirchner, M. ORCID logoORCID: https://orcid.org/0000-0002-7049-534X, Pentimalli, T.M. ORCID logoORCID: https://orcid.org/0000-0002-8461-7918, Fokkens, T.J. ORCID logoORCID: https://orcid.org/0009-0005-4689-4024, Stein, F., Dietrich, C., Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Schwefel, D. ORCID logoORCID: https://orcid.org/0000-0002-2945-0908, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Rybak-Wolf, A. ORCID logoORCID: https://orcid.org/0000-0002-1192-5290, Rajewsky, N. ORCID logoORCID: https://orcid.org/0000-0002-4785-4332, Mertins, P. ORCID logoORCID: https://orcid.org/0000-0002-2245-528X, Haberkant, P. ORCID logoORCID: https://orcid.org/0000-0002-5608-9062, Lorenz, S. ORCID logoORCID: https://orcid.org/0000-0002-9639-2381, Brose, N. ORCID logoORCID: https://orcid.org/0000-0003-0938-8534, Kawabe, H. ORCID logoORCID: https://orcid.org/0000-0001-5650-8696, Tarabykin, V. ORCID logoORCID: https://orcid.org/0000-0001-8931-7263 and Ambrozkiewicz, M.C. ORCID logoORCID: https://orcid.org/0000-0001-5225-5230
bioRxiv : 2025.04.09.646620v2. 29 April 2025

Interleukin-12 signaling drives Alzheimer’s disease pathology through disrupting neuronal and oligodendrocyte homeostasis.
Schneeberger, S., Kim, S.J. ORCID logoORCID: https://orcid.org/0000-0001-8357-0073, Geesdorf, M.N., Friebel, E. ORCID logoORCID: https://orcid.org/0000-0003-1419-2376, Eede, P., Jendrach, M. ORCID logoORCID: https://orcid.org/0000-0002-8601-2277, Boltengagen, A. ORCID logoORCID: https://orcid.org/0000-0002-8356-9766, Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Ruhwedel, T. ORCID logoORCID: https://orcid.org/0000-0002-9535-9395, Hülsmeier, A.J. ORCID logoORCID: https://orcid.org/0000-0001-6987-8979, Gimber, N. ORCID logoORCID: https://orcid.org/0000-0001-9456-3063, Foerster, M., Obst, J., Andreadou, M. ORCID logoORCID: https://orcid.org/0000-0001-6757-4664, Mundt, S. ORCID logoORCID: https://orcid.org/0000-0003-2169-2109, Schmoranzer, J., Prokop, S., Kessler, W., Kuhlmann, T., Möbius, W. ORCID logoORCID: https://orcid.org/0000-0002-2902-7165, Nave, K.A. ORCID logoORCID: https://orcid.org/0000-0001-8724-9666, Hornemann, T. ORCID logoORCID: https://orcid.org/0000-0002-4218-1087, Becher, B. ORCID logoORCID: https://orcid.org/0000-0002-1541-7867, Edgar, J.M. ORCID logoORCID: https://orcid.org/0000-0002-3869-0962, Karaiskos, N. ORCID logoORCID: https://orcid.org/0000-0001-7771-3947, Kocks, C. ORCID logoORCID: https://orcid.org/0000-0003-1749-3334, Rajewsky, N. ORCID logoORCID: https://orcid.org/0000-0002-4785-4332 and Heppner, F.L. ORCID logoORCID: https://orcid.org/0000-0001-9816-8917
Nature Aging 5 (4): 622-641. April 2025

Rapid brain tumor classification from sparse epigenomic data.
Brändl, B. ORCID logoORCID: https://orcid.org/0000-0003-1044-1355, Steiger, M. ORCID logoORCID: https://orcid.org/0000-0002-3747-685X, Kubelt, C., Rohrandt, C., Zhu, Z. ORCID logoORCID: https://orcid.org/0000-0003-3779-4265, Evers, M., Wang, G., Schuldt, B., Afflerbach, A.K., Wong, D., Lum, A., Halldorsson, S., Djirackor, L., Leske, H., Magadeeva, S., Smičius, R., Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Schmidt, N.O., Schüller, U. ORCID logoORCID: https://orcid.org/0000-0002-8731-1121, Vik-Mo, E.O. ORCID logoORCID: https://orcid.org/0000-0001-8303-4123, Proescholdt, M., Riemenschneider, M.J., Zadeh, G. ORCID logoORCID: https://orcid.org/0000-0002-6637-4502, Ammerpohl, O., Yip, S. ORCID logoORCID: https://orcid.org/0000-0002-8514-9861, Synowitz, M., van Bömmel, A. ORCID logoORCID: https://orcid.org/0000-0002-8434-8586, Kretzmer, H. ORCID logoORCID: https://orcid.org/0000-0002-0723-4980 and Müller, F.J. ORCID logoORCID: https://orcid.org/0000-0001-9478-8430
Nature Medicine 31 (3): 840-848. March 2025

Formation of amyloid-like HTTex1 aggregates in neurons, downregulation of synaptic proteins and early mortality of Huntington's disease flies are causally linked.
Ast, A. ORCID logoORCID: https://orcid.org/0000-0002-2312-1257, Roth, L., Brusendorf, L., Schindler, F. ORCID logoORCID: https://orcid.org/0000-0002-3320-8284, Ammar, O.W.M. ORCID logoORCID: https://orcid.org/0009-0003-5341-4434, Berberich, S., Edel, J., Bonsor, M. ORCID logoORCID: https://orcid.org/0000-0001-5447-084X, Georgii, E., Hänig, C. ORCID logoORCID: https://orcid.org/0000-0003-1973-7646, Langnick, C., Ivanov, A. ORCID logoORCID: https://orcid.org/0000-0002-4824-1925, Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Piraud, M., Kunz, S. ORCID logoORCID: https://orcid.org/0000-0002-0131-3506, Popp, O. ORCID logoORCID: https://orcid.org/0000-0001-6240-4666, Mertins, P. ORCID logoORCID: https://orcid.org/0000-0002-2245-528X, Petzoldt, A.G. and Wanker, E.E. ORCID logoORCID: https://orcid.org/0000-0001-8072-1630
bioRxiv : 2025.02.06.636778. 7 February 2025

Esophageal adenocarcinoma relapse after chemoradiation is dominated by a basal-like subtype.
Hoppe, S., Noseir, S., Yazbeck, A., Zaburannyi, N., Grossbach, J., Lyu, S.I., Velazquez Camacho, O., Müller, S., Gebauer, F., Richartz, V., Holz, B., Berg, J., Achter, V., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, K., Arolt, C., Meder, L., Zhao, Y., Schlößer, H., Baus, W.W., Kamp, F., Baues, C., Beyer, A. ORCID logoORCID: https://orcid.org/0000-0002-3891-2123, Odenthal, M., Quaas, A., Buettner, R. and Hillmer, A.M. ORCID logoORCID: https://orcid.org/0000-0002-3381-7266
bioRxiv : 2025.01.28.635332. 1 February 2025

Genetic alterations, therapy response, and survival among patients with triple-negative breast cancer: a secondary analysis of a randomized clinical trial.
Richters, L., Gluz, O., Weber-Lassalle, N., Christgen, M., Haverkamp, H., Kuemmel, S., Kayali, M., Kates, R.E., Grischke, E.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Forstbauer, H., Thiele, H., Braun, M., Warm, M., Ossowski, A., Wuerstlein, R., Ernst, C., Graeser, M., Linn, S.C., Nitz, U., Hauke, J., Kreipe, H.H., Schmutzler, R.K., Hahnen, E. and Harbeck, N.
JAMA Network Open 8 (2): e2461639. February 2025

Multimodal profiling of peripheral blood identifies proliferating circulating effector CD4(+) T cells as predictors for response to integrin α4β7-blocking therapy in inflammatory bowel disease.
Horn, V., Cancino, C.A., Steinheuer, L.M., Obermayer, B. ORCID logoORCID: https://orcid.org/0000-0002-9116-630X, Fritz, K., Nguyen, A.L., Juhran, K.S., Plattner, C., Bösel, D., Oldenburg, L., Burns, M., Schulz, A.R., Saliutina, M., Mantzivi, E., Lissner, D., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Mashreghi, M.F., Zundler, S., Sonnenberg, E., Schumann, M., Haag, L.M., Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Flatz, L., Trjanoski, Z., D'Haens, G., Weidinger, C., Mei, H.E., Siegmund, B., Thurley, K. and Hegazy, A.N.
Gastroenterology 168 (2): 327-343. February 2025

TERT expression and clinical outcome in pulmonary carcinoids.
Werr, L. ORCID logoORCID: https://orcid.org/0000-0002-3697-4136, Bartenhagen, C. ORCID logoORCID: https://orcid.org/0000-0002-2522-1454, Rosswog, C. ORCID logoORCID: https://orcid.org/0000-0002-8855-6198, Cartolano, M., Voegele, C. ORCID logoORCID: https://orcid.org/0000-0002-9592-8869, Sexton-Oates, A., Di Genova, A. ORCID logoORCID: https://orcid.org/0000-0002-3120-9283, Ernst, A. ORCID logoORCID: https://orcid.org/0000-0003-2375-1889, Kahlert, Y. ORCID logoORCID: https://orcid.org/0009-0006-0556-0439, Hemstedt, N., Höppner, S. ORCID logoORCID: https://orcid.org/0000-0002-2318-1874, Mansuet Lupo, A. ORCID logoORCID: https://orcid.org/0000-0002-7196-2114, Pelosi, G. ORCID logoORCID: https://orcid.org/0000-0003-4725-4692, Brcic, L. ORCID logoORCID: https://orcid.org/0000-0002-9098-8416, Papotti, M., George, J., Bosco, G., Quaas, A., Tang, L.H., Robzyk, K., Kadota, K., Roh, M.S., Fanaroff, R.E. ORCID logoORCID: https://orcid.org/0009-0000-1451-000X, Falcon, C.J. ORCID logoORCID: https://orcid.org/0000-0001-9143-1639, Büttner, R. ORCID logoORCID: https://orcid.org/0000-0001-8806-4786, Lantuejoul, S., Rekhtman, N. ORCID logoORCID: https://orcid.org/0000-0001-5801-3144, Rudin, C.M. ORCID logoORCID: https://orcid.org/0000-0001-5204-3465, Travis, W.D., Alcala, N. ORCID logoORCID: https://orcid.org/0000-0002-5961-5064, Fernandez-Cuesta, L., Foll, M. ORCID logoORCID: https://orcid.org/0000-0001-9006-8436, Peifer, M. ORCID logoORCID: https://orcid.org/0000-0002-5243-5503, Thomas, R.K. and Fischer, M. ORCID logoORCID: https://orcid.org/0000-0003-1363-1242
Journal of Clinical Oncology 43 (2): 214-225. 10 January 2025

Design and characterization of G-quadruplex RNA aptamers reveal RNA-binding by KDM5 lysine demethylases.
Luige, J. ORCID logoORCID: https://orcid.org/0000-0003-1314-8103, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Armaos, A., Louloupi, A. ORCID logoORCID: https://orcid.org/0000-0003-3729-9002, Vincent, A., Meierhofer, D. ORCID logoORCID: https://orcid.org/0000-0002-0170-868X, Gajhede, M., Tartaglia, G.G. and Ørom, U.A.V. ORCID logoORCID: https://orcid.org/0000-0002-0643-0592
Computational and Structural Biotechnology Journal 27 : 2719-2729. 2025

2024

Circulating tumor DNA sequencing for biologic classification and individualized risk stratification in patients with Hodgkin Lymphoma.
Heger, J.M. ORCID logoORCID: https://orcid.org/0000-0001-9463-8504, Mammadova, L., Mattlener, J. ORCID logoORCID: https://orcid.org/0000-0001-7048-0351, Sobesky, S., Cirillo, M. ORCID logoORCID: https://orcid.org/0000-0001-9881-0260, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kirst, E., Reinke, S., Klapper, W., Bröckelmann, P.J. ORCID logoORCID: https://orcid.org/0000-0001-9662-9900, Ferdinandus, J. ORCID logoORCID: https://orcid.org/0000-0002-3481-7997, Kaul, H., Schneider, G. ORCID logoORCID: https://orcid.org/0000-0001-6175-2554, Schneider, J. ORCID logoORCID: https://orcid.org/0000-0001-7163-819X, Schleifenbaum, J.K. ORCID logoORCID: https://orcid.org/0000-0001-7204-3235, Ullrich, R.T., Freihammer, M., Awerkiew, S. ORCID logoORCID: https://orcid.org/0000-0001-5739-319X, Lohmann, M., Klein, F. ORCID logoORCID: https://orcid.org/0000-0003-1376-1792, Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Hallek, M. ORCID logoORCID: https://orcid.org/0000-0002-7425-4455, Rossi, D. ORCID logoORCID: https://orcid.org/0000-0002-2837-1597, Mauz-Körholz, C. ORCID logoORCID: https://orcid.org/0000-0002-8205-8665, Gattenlöhner, S., Bräuninger, A., Borchmann, P. ORCID logoORCID: https://orcid.org/0000-0003-3782-2158, von Tresckow, B. ORCID logoORCID: https://orcid.org/0000-0003-1410-4487 and Borchmann, S.
Journal of Clinical Oncology 42 (35): 4218-4230. 10 December 2024

Effective inhibitor removal from wastewater samples increases sensitivity of RT-dPCR and sequencing analyses and enhances the stability of wastewater-based surveillance.
Linzner, N., Bartel, A. ORCID logoORCID: https://orcid.org/0000-0002-1280-6138, Schumacher, V., Grau, J.H. ORCID logoORCID: https://orcid.org/0000-0002-5328-3652, Wyler, E. ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Preuß, H., Garske, S., Bitzegeio, J., Kirst, E.B., Liere, K. ORCID logoORCID: https://orcid.org/0000-0003-1504-1449, Hoppe, S., Borodina, T.A. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Landthaler, M. ORCID logoORCID: https://orcid.org/0000-0002-1075-8734, Meixner, M., Sagebiel, D. and Böckelmann, U.
Microorganisms 12 (12): 2475. December 2024

Heat stress causes chromatin accessibility and related gene expression changes in crown tissues of barley (Hordeum vulgare).
Kiełbowicz-Matuk, A., Smaczniak, C., Mikołajczak, K., Kuczyńska, A., Xu, X., Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920 and Krajewski, P. ORCID logoORCID: https://orcid.org/0000-0001-5318-9896
Plant Molecular Biology 114 (6): 115. 22 October 2024

Spatiotemporal transcriptomic mapping of regenerative inflammation in skeletal muscle reveals a dynamic multilayered tissue architecture.
Patsalos, A., Halasz, L., Oleksak, D., Wei, X., Nagy, G., Tzerpos, P., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Hammers, D.W., Sweeney, H.L. and Nagy, L.
Journal of Clinical Investigation 134 (20): e173858. 15 October 2024

Intercellular extrachromosomal DNA copy-number heterogeneity drives neuroblastoma cell state diversity.
Stöber, M.C., Chamorro González, R. ORCID logoORCID: https://orcid.org/0000-0002-5653-7259, Brückner, L. ORCID logoORCID: https://orcid.org/0000-0002-6155-2277, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Wittstruck, N. ORCID logoORCID: https://orcid.org/0009-0000-4378-3226, Szymansky, A. ORCID logoORCID: https://orcid.org/0000-0003-4797-4526, Eggert, A., Schulte, J.H. ORCID logoORCID: https://orcid.org/0000-0003-0671-1201, Koche, R.P., Henssen, A.G. ORCID logoORCID: https://orcid.org/0000-0003-1534-778X, Schwarz, R.F. ORCID logoORCID: https://orcid.org/0000-0001-9155-4268 and Haase, K. ORCID logoORCID: https://orcid.org/0000-0002-0944-5618
Cell Reports 43 (9): 114711. 24 September 2024

A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa.
Ayub, M., Xiong, X., Anwer, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Naeem, M., Hassan, N., Khan, K., Motameny, S., Khaliq, S., Rehman, F.U., Uddin, S.A., Wali, A., Betz, R. and Basit, S.
Journal of Medicine and Life 17 (9): 892-896. 9 September 2024

Intramyocardial sprouting tip cells specify coronary arterialization.
Cano, E. ORCID logoORCID: https://orcid.org/0000-0003-1091-8934, Schwarzkopf, J. ORCID logoORCID: https://orcid.org/0000-0001-9552-0794, Kanda, M. ORCID logoORCID: https://orcid.org/0000-0003-3468-3586, Lindberg, E.L. ORCID logoORCID: https://orcid.org/0000-0002-2979-433X, Hollfinger, I. ORCID logoORCID: https://orcid.org/0000-0002-6233-8395, Pogontke, C. ORCID logoORCID: https://orcid.org/0000-0002-9610-9822, Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Hübner, N. ORCID logoORCID: https://orcid.org/0000-0002-1218-6223 and Gerhardt, H. ORCID logoORCID: https://orcid.org/0000-0002-3030-0384
Circulation Research 135 (6): 671-684. 30 August 2024

Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater.
Wyler, E. ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Lauber, C., Manukyan, A. ORCID logoORCID: https://orcid.org/0000-0002-0441-9517, Deter, A., Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Teixeira Alves, L.G. ORCID logoORCID: https://orcid.org/0000-0002-5822-4168, Wylezich, C. ORCID logoORCID: https://orcid.org/0000-0002-0436-4480, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Seitz, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Landthaler, M. ORCID logoORCID: https://orcid.org/0000-0002-1075-8734
Environment International 190 : 108875. August 2024

Single-nucleus and spatial transcriptome reveal adrenal homeostasis in normal and tumoural adrenal glands.
Altieri, B. ORCID logoORCID: https://orcid.org/0000-0003-2616-3249, Secener, A.K. ORCID logoORCID: https://orcid.org/0000-0003-4806-2852, Sai, S. ORCID logoORCID: https://orcid.org/0000-0001-6865-341X, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Sbiera, S., Arampatzi, P., Kircher, S., Herterich, S., Landwehr, L.S., Vitcetz, S.N., Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Fassnacht, M. ORCID logoORCID: https://orcid.org/0000-0001-6170-6398, Ronchi, C.L. ORCID logoORCID: https://orcid.org/0000-0001-5020-2071 and Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693
Clinical and Translational Medicine 14 (8): e1798. August 2024

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley, A.V., Gutiérrez-Gutiérrez, Ó., Hammer, E., Koitka, F., Mirzaiebadizi, A., Steinegger, M., Pape, C., Böhmer, L., Schroeder, H., Kleinsorge, M., Engler, M., Cirstea, I.C., Gremer, L., Willbold, D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Marbach, F., Hasenfuss, G., Zimmermann, W.H., Ahmadian, M.R., Wollnik, B. and Cyganek, L.
Cell Reports 43 (7): 114448. 23 July 2024

In situ Patch-seq analysis of microglia reveals a lack of stress genes as found in FACS-isolated microglia.
Bakina, O. ORCID logoORCID: https://orcid.org/0000-0002-3486-9906, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Mitic, N. ORCID logoORCID: https://orcid.org/0000-0003-0141-1293, Vidal, R.O. ORCID logoORCID: https://orcid.org/0000-0003-4217-2014, Obrusnik, T., Sai, S. ORCID logoORCID: https://orcid.org/0000-0001-6865-341X, Nolte, C. ORCID logoORCID: https://orcid.org/0000-0001-5398-3440, Semtner, M. ORCID logoORCID: https://orcid.org/0000-0001-9379-9023 and Kettenmann, H. ORCID logoORCID: https://orcid.org/0000-0001-8208-0291
PLoS ONE 19 (7): e0302376. 11 July 2024

Diagnosing recipient- vs. donor-derived posttransplant myelodysplastic neoplasm via targeted single-cell mutational profiling.
Ihlow, J., Penter, L. ORCID logoORCID: https://orcid.org/0000-0002-9060-0207, Vuong, L.G., Bischoff, P., Obermayer, B. ORCID logoORCID: https://orcid.org/0000-0002-9116-630X, Trinks, A. ORCID logoORCID: https://orcid.org/0000-0001-9983-1506, Blau, O., Behnke, A., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Morkel, M. ORCID logoORCID: https://orcid.org/0000-0002-2553-9999, Wu, C.J., Westermann, J., Bullinger, L. ORCID logoORCID: https://orcid.org/0000-0002-5890-5510, von Brünneck, A.C., Blüthgen, N. ORCID logoORCID: https://orcid.org/0000-0002-0171-7447, Horst, D. and Praktiknjo, S.D. ORCID logoORCID: https://orcid.org/0000-0002-0186-5271
Med 6 (4): 100548. 11 April 2024

T- and L-type calcium channels maintain calcium oscillations in the murine zona glomerulosa.
Dinh, H.A. ORCID logoORCID: https://orcid.org/0000-0002-7367-997X, Volkert, M., Secener, A.K. ORCID logoORCID: https://orcid.org/0000-0003-4806-2852, Scholl, U.I. ORCID logoORCID: https://orcid.org/0000-0002-0309-8045 and Stölting, G. ORCID logoORCID: https://orcid.org/0000-0002-2339-0545
Hypertension 81 (4): 811-822. April 2024

Activation of gp130 signaling in T cells drives T(H)17-mediated multi-organ autoimmunity.
Baumgartner, F. ORCID logoORCID: https://orcid.org/0000-0003-0768-1956, Bamopoulos, S.A. ORCID logoORCID: https://orcid.org/0000-0002-5997-7735, Faletti, L. ORCID logoORCID: https://orcid.org/0000-0002-9213-2478, Hsiao, H.J., Holz, M. ORCID logoORCID: https://orcid.org/0009-0002-1294-8205, Gonzalez-Menendez, I., Solé-Boldo, L. ORCID logoORCID: https://orcid.org/0000-0002-6974-9066, Horne, A. ORCID logoORCID: https://orcid.org/0000-0002-4209-4573, Gosavi, S., Özerdem, C. ORCID logoORCID: https://orcid.org/0000-0001-6772-0422, Singh, N., Liebig, S. ORCID logoORCID: https://orcid.org/0000-0002-5494-8476, Ramamoorthy, S. ORCID logoORCID: https://orcid.org/0000-0003-3468-4247, Lehmann, M. ORCID logoORCID: https://orcid.org/0000-0002-3786-7375, Demel, U. ORCID logoORCID: https://orcid.org/0000-0002-6480-4185, Kühl, A.A. ORCID logoORCID: https://orcid.org/0000-0003-2293-5387, Wartewig, T. ORCID logoORCID: https://orcid.org/0000-0001-8699-1690, Ruland, J. ORCID logoORCID: https://orcid.org/0000-0002-8381-3597, Wunderlich, F.T. ORCID logoORCID: https://orcid.org/0000-0002-9209-3501, Schick, M. ORCID logoORCID: https://orcid.org/0009-0003-8626-0611, Walther, W. ORCID logoORCID: https://orcid.org/0000-0003-2884-0231, Rose-John, S. ORCID logoORCID: https://orcid.org/0000-0002-7519-3279, Haas, S. ORCID logoORCID: https://orcid.org/0000-0001-9227-2051, Quintanilla-Martinez, L., Feske, S., Ehl, S. ORCID logoORCID: https://orcid.org/0000-0002-9265-2721, Glauben, R. ORCID logoORCID: https://orcid.org/0000-0003-2889-2525 and Keller, U. ORCID logoORCID: https://orcid.org/0000-0002-8485-1958
Science Signaling 17 (824): eadc9662. 20 February 2024

The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression.
Jamil, M. A., Al-Rifai, R., Nuesgen, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Oldenburg, J. and El-Maarri, O.
Frontiers in Genetics 15 : 1302685. 19 February 2024

SORCS2 activity in pancreatic α-cells safeguards insulin granule formation and release from glucose-stressed β-cells.
Kalnytska, O. ORCID logoORCID: https://orcid.org/0009-0005-8276-3849, Qvist, P., Kunz, S. ORCID logoORCID: https://orcid.org/0000-0002-0131-3506, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Willnow, T.E. ORCID logoORCID: https://orcid.org/0000-0001-9515-7921 and Schmidt, V. ORCID logoORCID: https://orcid.org/0000-0002-5851-1087
iScience 27 (1): 108725. 19 January 2024

Interferon regulatory factor 4 plays a pivotal role in the development of aGVHD-associated colitis.
Frueh, J.T., Campe, J., Sunaga-Franze, D.Y. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Verheyden, N.A., Ghimire, S., Meedt, E., Haslinger, D., Harenkamp, S., Staudenraus, D., Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Kreft, A., Schubert, R., Lohoff, M., Krueger, A., Bonig, H., Chiocchetti, A.G., Zeiser, R., Holler, E. and Ullrich, E. ORCID logoORCID: https://orcid.org/0000-0001-8530-1192
OncoImmunology 13 (1): 2296712. 2024

2023

Osteopontin in colitis-associated carcinoma.
Manna, S., Sehn, M., Cardoso da Silva, D., Wiese, J.J., Heldt, C., Plumbom, I. ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Husemann, C.C., Kleo, K., Derêzanin, L., Dony, V., Farahani, S.K., Weiss, F., Branchi, F., Kühl, A.A., Schallenberg, S., Weiner, J. ORCID logoORCID: https://orcid.org/0000-0003-1438-7819, Elezkurtaj, S., Weixler, B., Gröne, J., Siegmund, B., Hummel, M. and Schumann, M.
bioRxiv : 2023.12.15.571952. 16 December 2023

VoltRon: a spatial omics analysis platform for multi-resolution and multi-omics integration using image registration.
Manukyan, A. ORCID logoORCID: https://orcid.org/0000-0002-0441-9517, Bahry, E. ORCID logoORCID: https://orcid.org/0000-0002-6358-2576, Wyler, E. ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Becher, E., Pascual-Reguant, Anna, Plumbom, I. ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Dikmen, H.O., Elezkurtaj, S., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hauser, A.E., Hocke, A., Radbruch, H. ORCID logoORCID: https://orcid.org/0000-0001-6941-3397, Schmidt, D. ORCID logoORCID: https://orcid.org/0000-0002-8621-9438, Landthaler, M. ORCID logoORCID: https://orcid.org/0000-0002-1075-8734 and Akalin, A. ORCID logoORCID: https://orcid.org/0000-0002-0468-0117
bioRxiv : 2023.12.15.571667. 15 December 2023

XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes.
Chatzinikolaou, G. ORCID logoORCID: https://orcid.org/0000-0002-0868-0683, Stratigi, K. ORCID logoORCID: https://orcid.org/0000-0001-7476-6410, Siametis, A. ORCID logoORCID: https://orcid.org/0000-0003-0668-7563, Goulielmaki, E. ORCID logoORCID: https://orcid.org/0000-0003-1651-3137, Akalestou-Clocher, A. ORCID logoORCID: https://orcid.org/0000-0002-1267-6054, Tsamardinos, I. ORCID logoORCID: https://orcid.org/0000-0002-2492-959X, Topalis, P. ORCID logoORCID: https://orcid.org/0000-0002-1635-4810, Austin, C., Bouwman, B.A.M. ORCID logoORCID: https://orcid.org/0000-0002-9827-9497, Crosetto, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Garinis, G.A. ORCID logoORCID: https://orcid.org/0000-0002-3200-5004
Science Advances 9 (45): eadi2095. 10 November 2023

Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver.
Nikopoulou, C. ORCID logoORCID: https://orcid.org/0000-0001-7982-7737, Kleinenkuhnen, N., Parekh, S. ORCID logoORCID: https://orcid.org/0000-0002-4826-1651, Sandoval, T., Ziegenhain, C. ORCID logoORCID: https://orcid.org/0000-0003-2208-4877, Schneider, F., Giavalisco, P. ORCID logoORCID: https://orcid.org/0000-0002-4636-1827, Donahue, K.F., Vesting, A.J., Kirchner, M. ORCID logoORCID: https://orcid.org/0000-0003-0276-0495, Bozukova, M., Vossen, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Wunderlich, T. ORCID logoORCID: https://orcid.org/0000-0002-9209-3501, Sandberg, R. ORCID logoORCID: https://orcid.org/0000-0001-6473-1740, Kondylis, V. ORCID logoORCID: https://orcid.org/0000-0002-6970-8731, Tresch, A. ORCID logoORCID: https://orcid.org/0000-0002-4146-6371 and Tessarz, P. ORCID logoORCID: https://orcid.org/0000-0002-6953-9835
Nature Aging 3 (11): 1430-1445. November 2023

NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.
Hanssen, F., Gabernet, G., Smith, N.H. ORCID logoORCID: https://orcid.org/0009-0008-0026-0757, Mertes, C., Neogi, A.G., Brandhoff, L., Ossowski, A., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, K., Petzold, A., Sturm, M., Stöcker, T., Sivalingam, S., Brand, F., Schmidt, A., Buness, A., Probst, A.J., Motameny, S. ORCID logoORCID: https://orcid.org/0000-0003-1186-1108 and Köster, J. ORCID logoORCID: https://orcid.org/0000-0001-9818-9320
F1000Research 12 : 1125. 11 September 2023

Potential contribution of ancient introgression to the evolution of a derived reproductive strategy in ricefishes.
Flury, J.M. ORCID logoORCID: https://orcid.org/0000-0001-9994-5490, Meusemann, K., Martin, S., Hilgers, L., Spanke, T., Böhne, A. ORCID logoORCID: https://orcid.org/0000-0002-1284-3115, Herder, F., Mokodongan, D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Wowor, D., Misof, B., Nolte, A.W. and Schwarzer, J.
Genome Biology and Evolution 15 (8): evad138. 29 August 2023

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster, N. ORCID logoORCID: https://orcid.org/0000-0002-6058-9342, Erger, F., Kohl, S., Reusch, B., Wenzel, A., Walsh, S., Thiele, H., Becker, C., Franitza, M., Bartram, M.P., Kömhoff, M., Schumacher, L., Kukat, C., Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Nürnberg, P., Rinschen, M.M., Driller, J.H., Pedersen, B.P., Schlingmann, K.P., Hüttel, B., Bockenhauer, D., Beck, B. and Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521
Genome Medicine 15 (1): 62. 23 August 2023

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad, I., Lokau, J., Kespohl, B., Malik, N.A., Baig, S.M., Hartig, R., Behme, D., Schwab, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Jameel, M., Mucha, S., Thiele, H., Tariq, M., Nürnberg, P., Erdmann, J. and Garbers, C.
Scientific Reports 13 (1): 13479. 18 August 2023

Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
Sholokh, A. ORCID logoORCID: https://orcid.org/0000-0002-1263-2078, Walter, S., Markó, L. ORCID logoORCID: https://orcid.org/0000-0003-1888-5575, McMurray, B.J., Sunaga-Franze, D.Y. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Xu, M., Zühlke, K., Russwurm, M., Bartolomaeus, T.U.P. ORCID logoORCID: https://orcid.org/0000-0002-5156-7184, Langanki, R., Qadri, F. ORCID logoORCID: https://orcid.org/0000-0002-8500-489X, Heuser, A. ORCID logoORCID: https://orcid.org/0000-0002-3334-960X, Patzak, A., Forslund, S.K. ORCID logoORCID: https://orcid.org/0000-0003-4285-6993, Bähring, S. ORCID logoORCID: https://orcid.org/0000-0001-8734-9755, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Persson, P.B., Maass, P.G. ORCID logoORCID: https://orcid.org/0000-0002-2742-8301, Bader, M. ORCID logoORCID: https://orcid.org/0000-0003-4780-4164 and Klussmann, E. ORCID logoORCID: https://orcid.org/0000-0003-4004-5003
Kidney International 104 (2): 388-393. August 2023

Platelet-derived factors dysregulate placental sphingosine-1-phosphate receptor 2 in human trophoblasts.
Lyssy, F., Guettler, J. ORCID logoORCID: https://orcid.org/0000-0002-8141-5712, Brugger, B.A., Stern, C., Forstner, D., Nonn, O. ORCID logoORCID: https://orcid.org/0000-0001-6385-2866, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Herse, F., Wernitznig, S., Hirschmugl, B., Wadsack, C. and Gauster, M.
Reproductive BioMedicine Online 47 (2): 103215. August 2023

Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.
Zhu, M., Metzen, F., Hopkinson, M., Betz, J., Heilig, J., Sodhi, J., Imhof, T., Niehoff, A., Birk, D.E., Izu, Y., Krüger, M., Pitsillides, A. A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, van Osch, G.J.V.M., Straub, V., Schreiber, G., Paulsson, M., Koch, M. and Brachvogel, B.
iScience 26 (7): 107225. 21 July 2023

Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia.
Jiang, Q., Stachelscheid, J., Bloehdorn, J., Pacholewska, A., Aszyk, C.M., Grotenhuijs, F., Müller, T.A., Onder, O., Wagle, P., Herling, C.D., Kleppe, M., Wang, Z., Coombes, K.R., Robrecht, S., Dalvi, P.S., Plosnita, B., Mayer, P., Abruzzo, L.V., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Gathof, B.S., Persigehl, T., Fischer, K., Jebaraj, B.M.C., Rienhoff, H.Y., Ecker, R.C., Zhao, Y., Bruns, C.J., Stilgenbauer, S., Elenitoba-Johnson, K.S.J., Hallek, M., Schweiger, M.R., Odenthal, M., Vasyutina, E. and Herling, M.
Blood 142 (1): 44-61. 6 July 2023

iPSC-derived reactive astrocytes from patients with multiple-sclerosis protect cocultured neurons in inflammatory conditions.
Kerkering, J. ORCID logoORCID: https://orcid.org/0000-0002-6432-7104, Muinjonov, B. ORCID logoORCID: https://orcid.org/0000-0002-9380-8038, Rosiewicz, K.S. ORCID logoORCID: https://orcid.org/0000-0002-6926-7227, Diecke, S. ORCID logoORCID: https://orcid.org/0000-0002-5219-5992, Biese, C., Schiweck, J., Chien, C. ORCID logoORCID: https://orcid.org/0000-0001-8280-9513, Zocholl, D., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Paul, F. ORCID logoORCID: https://orcid.org/0000-0002-6378-0070, Alisch, M. ORCID logoORCID: https://orcid.org/0009-0000-8316-6193 and Siffrin, V. ORCID logoORCID: https://orcid.org/0000-0002-1532-2868
Journal of Clinical Investigation 133 (13): e164637. 3 July 2023

A local subset of mesenchymal cells expressing the transcription factor Osr1 orchestrates lymph node initiation.
Vallecillo-García, P., Orgeur, M., Comai, G., Poehle-Kronnawitter, S., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Gloger, M. ORCID logoORCID: https://orcid.org/0000-0002-3319-7642, Dumas, C.E., Giesecke-Thiel, C., Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Tajbakhsh, S., Höpken, U.E. ORCID logoORCID: https://orcid.org/0000-0002-0776-4893 and Stricker, S.
Immunity 56 (6): 1204-1219. 13 June 2023

The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch, S., Haslinger, D., Lindlar, S., Thiele, H., Bernsen, N., Zahnert, F. ORCID logoORCID: https://orcid.org/0000-0003-0366-6724, Reif, P.S., Balcik, Y., Au, P.Y.B., Josephson, C. ORCID logoORCID: https://orcid.org/0000-0002-3607-834X, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Strzelczyk, A. ORCID logoORCID: https://orcid.org/0000-0001-6288-9915, Knake, S., Rosenow, F., Chiocchetti, A. and Klein, K.M. ORCID logoORCID: https://orcid.org/0000-0002-6654-1665
Epilepsia Open 8 (2): 497-508. June 2023

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger, F. ORCID logoORCID: https://orcid.org/0000-0002-2768-1702, Aryal, R.P., Reusch, B., Matsumoto, Y. ORCID logoORCID: https://orcid.org/0000-0003-2606-2616, Meyer, R., Zeng, J., Knopp, C., Noel, M., Muerner, L., Wenzel, A., Kohl, S., Tschernoster, N., Rappl, G., Rouvet, I., Schröder-Braunstein, J., Seibert, F.S., Thiele, H., Häusler, M.G., Weber, L.T. ORCID logoORCID: https://orcid.org/0000-0003-4116-598X, Büttner-Herold, M., Elbracht, M., Cummings, S.F. ORCID logoORCID: https://orcid.org/0000-0002-8918-5034, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Habbig, S., Cummings, R.D. and Beck, B.B. ORCID logoORCID: https://orcid.org/0000-0003-0495-7670
Proceedings of the National Academy of Sciences of the United States of America 120 (22): e2211087120. 30 May 2023

Establishment of gastrointestinal assembloids to study the interplay between epithelial crypts and their mesenchymal niche.
Lin, M. ORCID logoORCID: https://orcid.org/0000-0003-4093-9277, Hartl, K. ORCID logoORCID: https://orcid.org/0000-0002-2965-0512, Heuberger, J. ORCID logoORCID: https://orcid.org/0000-0001-7205-732X, Beccaceci, G. ORCID logoORCID: https://orcid.org/0000-0002-6453-3725, Berger, H. ORCID logoORCID: https://orcid.org/0000-0002-6304-4946, Li, H. ORCID logoORCID: https://orcid.org/0000-0001-5677-3377, Liu, L. ORCID logoORCID: https://orcid.org/0000-0002-9553-5475, Müllerke, S., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Heymann, F., Woehler, A. ORCID logoORCID: https://orcid.org/0000-0001-5157-9313, Tacke, F. ORCID logoORCID: https://orcid.org/0000-0001-6206-0226, Rajewsky, N. ORCID logoORCID: https://orcid.org/0000-0002-4785-4332 and Sigal, M. ORCID logoORCID: https://orcid.org/0000-0003-4772-0761
Nature Communications 14 (1): 3025. 25 May 2023

scEC(&)T-seq: a method for parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single human cells.
Chamorro González, Rocío ORCID logoORCID: https://orcid.org/0000-0002-5653-7259, Conrad, Thomas ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Kasack, Katharina and Henssen, Anton G. ORCID logoORCID: https://orcid.org/0000-0003-1534-778X
Research Square. 23 May 2023

The fate of oxidative strand breaks in mitochondrial DNA.
Trombly, G., Said, A.M., Kudin, A.P., Peeva, V., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, K., Köhrer, K. ORCID logoORCID: https://orcid.org/0000-0003-3644-2022, Zsurka, G. ORCID logoORCID: https://orcid.org/0000-0002-6379-849X and Kunz, W.S. ORCID logoORCID: https://orcid.org/0000-0003-1113-3493
Antioxidants 12 (5): 1087. 12 May 2023

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder, S., Yigit, G., Li, Y., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Büttel, H.M., Fiedler, B., Kretzschmar, C., Nürnberg, P., Seeger, J., Serpieri, V., Valente, E.M., Wollnik, B., Boltshauser, E. and Brockmann, K. ORCID logoORCID: https://orcid.org/0000-0001-6823-9091
Orphanet Journal of Rare Diseases 18 (1): 101. 2 May 2023

Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells.
Chamorro González, R. ORCID logoORCID: https://orcid.org/0000-0002-5653-7259, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Stöber, M.C. ORCID logoORCID: https://orcid.org/0000-0002-6679-5577, Xu, R. ORCID logoORCID: https://orcid.org/0000-0002-5618-246X, Giurgiu, M. ORCID logoORCID: https://orcid.org/0000-0001-5007-7442, Rodriguez-Fos, E. ORCID logoORCID: https://orcid.org/0000-0002-2555-0178, Kasack, K., Brückner, L. ORCID logoORCID: https://orcid.org/0000-0002-6155-2277, van Leen, E. ORCID logoORCID: https://orcid.org/0000-0001-9545-4803, Helmsauer, K. ORCID logoORCID: https://orcid.org/0000-0003-0773-4114, Dorado Garcia, H. ORCID logoORCID: https://orcid.org/0000-0002-2578-3350, Stefanova, M.E. ORCID logoORCID: https://orcid.org/0000-0002-4419-2839, Hung, K.L. ORCID logoORCID: https://orcid.org/0000-0002-3662-4662, Bei, Y. ORCID logoORCID: https://orcid.org/0000-0002-2104-8025, Schmelz, K., Lodrini, M., Mundlos, S., Chang, H.Y. ORCID logoORCID: https://orcid.org/0000-0002-9459-4393, Deubzer, H.E. ORCID logoORCID: https://orcid.org/0000-0002-6115-4893, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Eggert, A. ORCID logoORCID: https://orcid.org/0000-0003-3476-8184, Schulte, J.H. ORCID logoORCID: https://orcid.org/0000-0003-0671-1201, Schwarz, R.F. ORCID logoORCID: https://orcid.org/0000-0001-9155-4268, Haase, K. ORCID logoORCID: https://orcid.org/0000-0002-0944-5618, Koche, R.P. ORCID logoORCID: https://orcid.org/0000-0002-6820-5083 and Henssen, A.G. ORCID logoORCID: https://orcid.org/0000-0003-1534-778X
Nature Genetics 55 (5): 880-890. May 2023

Genomic ALK alterations in primary and relapsed neuroblastoma.
Rosswog, C. ORCID logoORCID: https://orcid.org/0000-0002-8855-6198, Fassunke, J. ORCID logoORCID: https://orcid.org/0000-0002-8391-5577, Ernst, A., Schömig-Markiefka, B., Merkelbach-Bruse, S., Bartenhagen, C., Cartolano, M., Ackermann, S. ORCID logoORCID: https://orcid.org/0000-0002-5869-7344, Theissen, J., Blattner-Johnson, M., Jones, B., Schramm, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Ortmann, M., Berthold, F., Peifer, M. ORCID logoORCID: https://orcid.org/0000-0002-5243-5503, Büttner, R. ORCID logoORCID: https://orcid.org/0000-0001-8806-4786, Westermann, F., Schulte, J.H. ORCID logoORCID: https://orcid.org/0000-0003-0671-1201, Simon, T. ORCID logoORCID: https://orcid.org/0000-0002-3425-8451, Hero, B. and Fischer, M. ORCID logoORCID: https://orcid.org/0000-0003-1363-1242
British Journal of Cancer 128 (8): 1559-1571. 12 April 2023

Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain.
Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H.J., Drechsler, M., Yigit, G. ORCID logoORCID: https://orcid.org/0000-0003-2777-0198, Smorag, L., Hallak, B.A., Li, Y., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Abou Jamra, R., Al-Maawali, A. ORCID logoORCID: https://orcid.org/0000-0002-1404-8887 and Wieczorek, D.
Clinical Genetics 103 (4): 484-491. April 2023

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel, F. ORCID logoORCID: https://orcid.org/0000-0002-9966-8937, Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B. and Yigit, G.
Human Genetics 142 (4): 543-552. April 2023

Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
Mangiante, L. ORCID logoORCID: https://orcid.org/0000-0001-8309-0950, Alcala, N. ORCID logoORCID: https://orcid.org/0000-0002-5961-5064, Sexton-Oates, A., Di Genova, A. ORCID logoORCID: https://orcid.org/0000-0002-8582-4660, Gonzalez-Perez, A., Khandekar, A., Bergstrom, E.N., Kim, J. ORCID logoORCID: https://orcid.org/0000-0002-5210-2004, Liu, X., Blazquez-Encinas, R., Giacobi, C., Le Stang, N., Boyault, S. ORCID logoORCID: https://orcid.org/0000-0002-2297-6894, Cuenin, C., Tabone-Eglinger, S. ORCID logoORCID: https://orcid.org/0000-0003-4247-1321, Damiola, F. ORCID logoORCID: https://orcid.org/0000-0002-0238-1252, Voegele, C., Ardin, M., Michallet, M.C., Soudade, L., Delhomme, T.M. ORCID logoORCID: https://orcid.org/0000-0003-0265-4246, Poret, A., Brevet, M., Copin, M.C., Giusiano-Courcambeck, S., Damotte, D., Girard, C., Hofman, V., Hofman, P., Mouroux, J., Cohen, C., Lacomme, S., Mazieres, J., de Montpreville, V.T., Perrin, C., Planchard, G., Rousseau, N., Rouquette, I., Sagan, C., Scherpereel, A., Thivolet, F., Vignaud, J.M., Jean, D., Ilg, A.G.S., Olaso, R. ORCID logoORCID: https://orcid.org/0000-0001-7631-9657, Meyer, V., Boland-Auge, A. ORCID logoORCID: https://orcid.org/0000-0001-8789-5676, Deleuze, J.F. ORCID logoORCID: https://orcid.org/0000-0002-5358-4463, Altmuller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nuernberg, P., Ibáñez-Costa, A. ORCID logoORCID: https://orcid.org/0000-0003-4649-0095, Castaño, J.P. ORCID logoORCID: https://orcid.org/0000-0002-3145-7287, Lantuejoul, S., Ghantous, A., Maussion, C. ORCID logoORCID: https://orcid.org/0000-0003-2266-5276, Courtiol, P., Hernandez-Vargas, H. ORCID logoORCID: https://orcid.org/0000-0001-6045-2103, Caux, C., Girard, N., Lopez-Bigas, N. ORCID logoORCID: https://orcid.org/0000-0003-4925-8988, Alexandrov, L.B., Galateau-Salle, F. ORCID logoORCID: https://orcid.org/0000-0002-2814-1644, Foll, M. ORCID logoORCID: https://orcid.org/0000-0001-9006-8436 and Fernandez-Cuesta, L. ORCID logoORCID: https://orcid.org/0000-0002-0724-6703
Nature Genetics 55 (4): 607-618. April 2023

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera, J.A., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Pérez-Palma, E., Hamer, H., Brandner, S., Rössler, K., Bien, C.G., Kalbhenn, T., Pieper, T., Hartlieb, T., Butler, E., Genovese, G., Becker, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Niestroj, L.M., Ferguson, L., Busch, R.M., Nürnberg, P., Najm, I., Blümcke, I. and Lal, D.
Brain 146 (4): 1342-1356. April 2023

Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Strathmann, E.A., Hölker, I., Tschernoster, N., Hosseinibarkooie, S., Come, J., Martinat, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Wirth, B. ORCID logoORCID: https://orcid.org/0000-0003-4051-5191
American Journal of Human Genetics 110 (3): 442-459. 2 March 2023

Distinct tissue niches direct lung immunopathology via CCL18 and CCL21 in severe COVID-19.
Mothes, R., Pascual-Reguant, A. ORCID logoORCID: https://orcid.org/0000-0002-5042-3699, Koehler, R., Liebeskind, J., Liebheit, A. ORCID logoORCID: https://orcid.org/0009-0007-6743-8313, Bauherr, S. ORCID logoORCID: https://orcid.org/0000-0002-3736-3361, Philipsen, L. ORCID logoORCID: https://orcid.org/0000-0001-5112-495X, Dittmayer, C., Laue, M. ORCID logoORCID: https://orcid.org/0000-0002-6474-9139, von Manitius, R., Elezkurtaj, S., Durek, P., Heinrich, F. ORCID logoORCID: https://orcid.org/0000-0001-6097-5422, Heinz, G.A. ORCID logoORCID: https://orcid.org/0000-0002-9330-3689, Guerra, G.M., Obermayer, B. ORCID logoORCID: https://orcid.org/0000-0002-9116-630X, Meinhardt, J., Ihlow, J., Radke, J. ORCID logoORCID: https://orcid.org/0000-0001-9860-2007, Heppner, F.L. ORCID logoORCID: https://orcid.org/0000-0001-9816-8917, Enghard, P., Stockmann, H. ORCID logoORCID: https://orcid.org/0000-0002-0934-7620, Aschman, T. ORCID logoORCID: https://orcid.org/0000-0002-2101-6146, Schneider, J. ORCID logoORCID: https://orcid.org/0000-0002-0494-1022, Corman, V.M. ORCID logoORCID: https://orcid.org/0000-0002-3605-0136, Sander, L.E. ORCID logoORCID: https://orcid.org/0000-0002-0476-9947, Mashreghi, M.F. ORCID logoORCID: https://orcid.org/0000-0002-8015-6907, Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Hocke, A.C. ORCID logoORCID: https://orcid.org/0000-0002-6935-8612, Niesner, R.A. ORCID logoORCID: https://orcid.org/0000-0001-8969-5432, Radbruch, H. ORCID logoORCID: https://orcid.org/0000-0001-6941-3397 and Hauser, A.E. ORCID logoORCID: https://orcid.org/0000-0002-7725-9526
Nature Communications 14 (1): 791. 11 February 2023

A single-cell RNA labeling strategy for measuring stress response upon tissue dissociation.
Neuschulz, A. ORCID logoORCID: https://orcid.org/0000-0001-6163-3344, Bakina, O. ORCID logoORCID: https://orcid.org/0000-0002-3486-9906, Badillo Lisakowski, V. ORCID logoORCID: https://orcid.org/0000-0001-5906-2589, Olivares-Chauvet, P., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Gotthardt, M. ORCID logoORCID: https://orcid.org/0000-0003-1788-3172, Kettenmann, H. ORCID logoORCID: https://orcid.org/0000-0001-8208-0291 and Junker, J.P. ORCID logoORCID: https://orcid.org/0000-0002-2826-8290
Molecular Systems Biology 19 (2): e11147. 10 February 2023

Single-cell clonal tracking of persistent T-cells in allogeneic hematopoietic stem cell transplantation.
Obermayer, B. ORCID logoORCID: https://orcid.org/0000-0002-9116-630X, Keilholz, L., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Frentsch, M., Blau, I.W., Vuong, L., Lesch, S., Movasshagi, K., Tietze-Stolley, C., Loyal, L., Henze, L., Penack, O., Stervbo, U. ORCID logoORCID: https://orcid.org/0000-0002-2831-8868, Babel, N., Haas, S. ORCID logoORCID: https://orcid.org/0000-0001-9227-2051, Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Bullinger, L. ORCID logoORCID: https://orcid.org/0000-0002-5890-5510, Wittenbecher, F. and Na, I.K. ORCID logoORCID: https://orcid.org/0000-0001-9902-5424
Frontiers in Immunology 14 : 1114368. 10 February 2023

Modeling of ACTN4-based podocytopathy using Drosophila nephrocytes.
Odenthal, J., Dittrich, S., Ludwig, V., Merz, T., Reitmeier, K., Reusch, B., Höhne, M., Cosgun, Z.C., Hohenadel, M., Putnik, J., Göbel, H., Rinschen, M.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Koehler, S., Schermer, B., Benzing, T., Beck, B.B., Brinkkötter, P.T., Habbig, S. and Bartram, M.P.
Kidney International Reports 8 (2): 317-329. February 2023

Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA.
Keil, P., Wulf, A., Kachariya, N., Reuscher, S., Hühn, K., Silbern, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Keller, M., Stehle, R., Zarnack, K. ORCID logoORCID: https://orcid.org/0000-0003-3527-3378, Sattler, M. ORCID logoORCID: https://orcid.org/0000-0002-1594-0527, Urlaub, H. ORCID logoORCID: https://orcid.org/0000-0003-1837-5233 and Sträßer, K. ORCID logoORCID: https://orcid.org/0000-0003-3533-5516
Nucleic Acids Research 51 (2): 831-851. 25 January 2023

Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and development.
Freitag, K. ORCID logoORCID: https://orcid.org/0000-0002-5244-3140, Eede, P., Ivanov, A. ORCID logoORCID: https://orcid.org/0000-0002-4824-1925, Sterczyk, N., Schneeberger, S., Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632 and Heppner, F.L. ORCID logoORCID: https://orcid.org/0000-0001-9816-8917
Communications Biology 6 (1): 40. 13 January 2023

2022

SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolution.
Schumann, V.F. ORCID logoORCID: https://orcid.org/0000-0003-0227-7428, de Castro Cuadrat, R.R. ORCID logoORCID: https://orcid.org/0000-0001-8289-2599, Wyler, E. ORCID logoORCID: https://orcid.org/0000-0002-9884-1806, Wurmus, R. ORCID logoORCID: https://orcid.org/0009-0003-0140-4189, Deter, A., Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Dohmen, J. ORCID logoORCID: https://orcid.org/0000-0002-7826-3025, Faxel, M. ORCID logoORCID: https://orcid.org/0009-0007-4891-1734, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Blume, A. ORCID logoORCID: https://orcid.org/0000-0003-3045-8234, Freimuth, J. ORCID logoORCID: https://orcid.org/0000-0002-9259-3696, Meixner, M., Grau, J.H., Liere, K., Hackenbeck, T., Zietzschmann, F., Gnirss, R., Böckelmann, U., Uyar, B. ORCID logoORCID: https://orcid.org/0000-0002-3170-4890, Franke, V. ORCID logoORCID: https://orcid.org/0000-0003-3606-6792, Barke, N. ORCID logoORCID: https://orcid.org/0009-0004-5862-6628, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Rajewsky, N. ORCID logoORCID: https://orcid.org/0000-0002-4785-4332, Landthaler, M. ORCID logoORCID: https://orcid.org/0000-0002-1075-8734 and Akalin, A. ORCID logoORCID: https://orcid.org/0000-0002-0468-0117
Science of the Total Environment 853 : 158931. 20 December 2022

Mutant phosphodiesterase 3A protects from hypertension-induced cardiac damage.
Ercu, M., Mücke, M.B. ORCID logoORCID: https://orcid.org/0000-0002-4957-3307, Pallien, T., Markó, L. ORCID logoORCID: https://orcid.org/0000-0003-1888-5575, Sholokh, A. ORCID logoORCID: https://orcid.org/0000-0002-1263-2078, Schächterle, C., Aydin, A. ORCID logoORCID: https://orcid.org/0000-0002-2890-0225, Kidd, A., Walter, S. ORCID logoORCID: https://orcid.org/0000-0002-2041-2921, Esmati, Y. ORCID logoORCID: https://orcid.org/0000-0001-9010-8119, McMurray, B.J. ORCID logoORCID: https://orcid.org/0000-0003-3394-0667, Lato, D.F. ORCID logoORCID: https://orcid.org/0000-0002-9263-8532, Sunaga-Franze, D.Y. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Dierks, P.H. ORCID logoORCID: https://orcid.org/0000-0001-5903-8343, Flores, B.I.M., Walker-Gray, R., Gong, M. ORCID logoORCID: https://orcid.org/0000-0001-7384-3429, Merticariu, C., Zühlke, K., Russwurm, M., Liu, T., Batolomaeus, T.U.P. ORCID logoORCID: https://orcid.org/0000-0002-5156-7184, Pautz, S., Schelenz, S., Taube, M., Napieczynska, H. ORCID logoORCID: https://orcid.org/0000-0001-5091-1185, Heuser, A. ORCID logoORCID: https://orcid.org/0000-0002-3334-960X, Eichhorst, J., Lehmann, M., Miller, D.C. ORCID logoORCID: https://orcid.org/0000-0001-9852-677X, Diecke, S. ORCID logoORCID: https://orcid.org/0000-0002-5219-5992, Qadri, F. ORCID logoORCID: https://orcid.org/0000-0002-8500-489X, Popova, E. ORCID logoORCID: https://orcid.org/0000-0002-3043-9650, Langanki, R., Movsesian, M.A., Herberg, F.W. ORCID logoORCID: https://orcid.org/0000-0001-7117-7653, Forslund, S.K. ORCID logoORCID: https://orcid.org/0000-0003-4285-6993, Müller, D.N. ORCID logoORCID: https://orcid.org/0000-0003-3650-5644, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Maass, P.G. ORCID logoORCID: https://orcid.org/0000-0002-2742-8301, Bähring, S. ORCID logoORCID: https://orcid.org/0000-0001-8734-9755, Hübner, N. ORCID logoORCID: https://orcid.org/0000-0002-1218-6223, Bader, M. ORCID logoORCID: https://orcid.org/0000-0003-4780-4164 and Klussmann, E. ORCID logoORCID: https://orcid.org/0000-0003-4004-5003
Circulation 146 (23): 1758-1778. 6 December 2022

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt, F., Ellinghaus, D., Juzenas, S., Lerga-Jaso, J., Wendorff, M., Maya-Miles, D., Uellendahl-Werth, F., ElAbd, H., Rühlemann, M.C., Arora, J., Özer, O., Lenning, O.B., Myhre, R., Vadla, M.S., Wacker, E.M., Wienbrandt, L., Ortiz, A.B., de Salazar, A., Chercoles, A.G., Palom, A., Ruiz, A., Garcia-Fernandez, A.E., Blanco-Grau, A., Mantovani, A., Zanella, A., Holten, A.R., Mayer, A., Bandera, A., Cherubini, A., Protti, A., Aghemo, A., Gerussi, A., Ramirez, A., Braun, A., Nebel, A., Barreira, A., Lleo, A., Teles, A., Kildal, A.B., Biondi, A., Caballero-Garralda, A., Ganna, A., Gori, A., Glück, A., Lind, A., Tanck, A., Hinney, A., Nolla, A.C., Fracanzani, A.L., Peschuck, A., Cavallero, A., Dyrhol-Riise, A.M., Ruello, A., Julià, A., Muscatello, A., Pesenti, A., Voza, A., Rando-Segura, A., Solier, A., Schmidt, A., Cortes, B., Mateos, B., Nafria-Jimenez, B., Schaefer, B., Jensen, B., Bellinghausen, C., Maj, C., Ferrando, C., Horra, C., Quereda, C., Skurk, C., Thibeault, C., Scollo, C., Herr, C., Spinner, C.D., Gassner, C., Lange, C., Hu, C., Paccapelo, C., Lehmann, C., Angelini, C., Cappadona, C., Azuure, C., Bianco, C., Cea, C., Sancho, C., Hoff, D.A.L., Galimberti, D., Prati, D., Haschka, D., Jiménez, D., Pestaña, D., Toapanta, D., Muñiz-Diaz, E., Azzolini, E., Sandoval, E., Binatti, E., Scarpini, E., Helbig, E.T., Casalone, E., Urrechaga, E., Paraboschi, E.M., Pontali, E., Reverter, E., Calderón, E.J., Navas, E., Solligård, E., Contro, E., Arana-Arri, E., Aziz, F., Garcia, F., Sánchez, F.G., Ceriotti, F., Martinelli-Boneschi, F., Peyvandi, F., Kurth, F., Blasi, F., Malvestiti, F., Medrano, F.J., Mesonero, F., Rodriguez-Frias, F., Hanses, F., Müller, F., Hemmrich-Stanisak, G., Bellani, G., Grasselli, G., Pezzoli, G., Costantino, G., Albano, G., Cardamone, G., Bellelli, G., Citerio, G., Foti, G., Lamorte, G., Matullo, G., Baselli, G., Kurihara, H., Neb, H., My, I., Kurth, I., Hernández, I., Pink, I., Rojas, I., Galván-Femenia, I., Holter, J.C., Afset, J.E., Heyckendorf, J., Kässens, J., Damås, J.K., Rybniker, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ampuero, J., Martín, J., Erdmann, J., Banales, J.M., Badia, J.R., Dopazo, J., Schneider, J., Bergan, J., Barretina, J., Walter, J., Quero, J.H., Goikoetxea, J., Delgado, J., Guerrero, J.M., Fazaal, J., Kraft, J., Schröder, J., Risnes, K., Banasik, K., Müller, K.E., Gaede, K.I., Garcia-Etxebarria, K., Tonby, K., Heggelund, L., Izquierdo-Sanchez, L., Bettini, L.Rachele, Sumoy, L., Sander, L.E., Lippert, L.J., Terranova, L., Nkambule, L., Knopp, L., Gustad, L.T., Garbarino, L., Santoro, L., Téllez, L., Roade, L., Ostadreza, M., Intxausti, M., Kogevinas, M., Riveiro-Barciela, M., Berger, M.M., Schaefer, M., Niemi, M.E.K., Gutiérrez-Stampa, M.A., Carrabba, M., Figuera Basso, M.E., Valsecchi, M.G., Hernandez-Tejero, M., Vehreschild, M.J.G.T, Manunta, M., Acosta-Herrera, M., D'Angiò, M., Baldini, M., Cazzaniga, M., Grimsrud, M.M., Cornberg, M., Nöthen, M.M., Marquié, M., Castoldi, M., Cordioli, M., Cecconi, M., D'Amato, M., Augustin, M., Tomasi, M., Boada, M., Dreher, M., Seilmaier, M.J., Joannidis, M., Wittig, M., Mazzocco, M., Ciccarelli, M., Rodríguez-Gandía, M., Bocciolone, M., Miozzo, M., Ayo, N.I., Blay, N., Chueca, N., Montano, N., Braun, N., Ludwig, N., Marx, N., Martínez, N., Cornely, O.A., Witzke, O., Palmieri, O., Faverio, P., Preatoni, P., Bonfanti, P., Omodei, P., Tentorio, P., Castro, P., Rodrigues, P.M., España, P.P., Hoffmann, P., Rosenstiel, P., Schommers, P., Suwalski, P., Pablo, R., Ferrer, R., Bals, R., Gualtierotti, R., Gallego-Durán, R., Nieto, R., Carpani, R., Morilla, R., Badalamenti, S., Haider, S., Ciesek, S., May, S., Bombace, S., Marsal, S., Pigazzini, S., Klein, S., Pelusi, S., Wilfling, S., Bosari, S., Volland, S., Brunak, S., Raychaudhuri, S., Schreiber, S., Heilmann-Heimbach, S., Aliberti, S., Ripke, S., Dudman, S., Wesse, T., Zheng, T., Bahmer, T., Eggermann, T., Illig, T., Brenner, T., Pumarola, T., Feldt, T., Folseraas, T., Cejudo, T.G., Landmesser, U., Protzer, U., Hehr, U., Rimoldi, V., Monzani, V., Skogen, V., Keitel, V., Kopfnagel, V., Friaza, V., Andrade, V., Moreno, V., Albrecht, W., Peter, W., Poller, W., Farre, X., Yi, X., Wang, X., Khodamoradi, Y., Karadeniz, Z., Latiano, A., Goerg, S., Bacher, P., Koehler, P., Tran, F., Zoller, H., Schulte, E.C., Heidecker, B., Ludwig, K.U., Fernández, J., Romero-Gómez, M., Albillos, A., Invernizzi, P., Buti, M., Duga, S., Bujanda, L., Hov, J.R., Lenz, T.L., Asselta, R., Cid, R., Valenti, L., Karlsen, T.H., Cáceres, M. and Franke, A.
Human Molecular Genetics 31 (23): 3945-3966. 1 December 2022

NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition.
Vesting, A.J., Jais, A., Klemm, P., Steuernagel, L., Wienand, P., Fog-Tonnesen, M., Hvid, H., Schumacher, A.L., Kukat, C., Nolte, H., Georgomanolis, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Pasparakis, M., Schmidt, A., Krüger, M., Supprian, M.S., Waisman, A., Straub, B.K., Raschzok, N., Bernier, M., Birkenfeld, A.L., Hövelmeyer, N., Brüning, J.C. and Wunderlich, F.T.
Molecular Metabolism 66 : 101626. December 2022

Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies.
Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C.D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., da Palma Guerreiro, A., von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Yang, T.P., Lienhard, M., Herwig, R., Kreuzer, K.A., Pallasch, C.P., Buettner, R., Schäfer, S.C., Hartley, J., Abken, H., Peifer, M., Kashkar, H., Knittel, G., Eichhorst, B., Ullrich, R.T., Herling, M., Reinhardt, H.C., Hallek, M., Schweiger, M.R. and Frenzel, L.P.
Blood 140 (20): 2113-2126. 17 November 2022

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G. and Wollnik, B.
Frontiers in Cell and Developmental Biology 10 : 1025332. 16 November 2022

Integrated genomic surveillance enables tracing of person-to-person SARS-CoV-2 transmission chains during community transmission and reveals extensive onward transmission of travel-imported infections, Germany, June to July 2021.
Houwaart, Torsten, Belhaj, S., Tawalbeh, E., Nagels, D., Fröhlich, Y., Finzer, P., Ciruela, P., Sabrià, A., Herrero, M., Andrés, C., Antón, A., Benmoumene, A., Asskali, D., Haidar, H., von Dahlen, J., Nicolai, J., Stiller, M., Blum, J., Lange, C., Adelmann, C., Schroer, B., Osmers, U., Grice, C., Kirfel, P.P., Jomaa, H., Strelow, D., Hülse, L., Pigulla, M., Kreuzer, P., Tyshaieva, A., Weber, J., Wienemann, T., Kohns Vasconcelos, M., Hoffmann, K., Lübke, N., Hauka, S., Andree, M., Scholz, C.J., Jazmati, N., Göbels, K., Zotz, R., Pfeffer, K., Timm, J., Ehlkes, L., Walker, A. and Dilthey, A.T.
Eurosurveillance 27 (43): 2101089. 27 October 2022

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I. ORCID logoORCID: https://orcid.org/0000-0003-4845-9227, Khan, A., Noor Ul Ayan, H., Budde, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Korejo, A.A., Nürnberg, G., Thiele, H., Tariq, M. ORCID logoORCID: https://orcid.org/0000-0002-5334-403X, Nürnberg, P. and Erdmann, J.
Journal of Human Genetics 11 October 2022

Candesartan does not activate PPAR(γ) and its target genes in early gestation trophoblasts.
Neuper, L., Kummer, D., Forstner, D. ORCID logoORCID: https://orcid.org/0000-0001-5451-7580, Guettler, J. ORCID logoORCID: https://orcid.org/0000-0002-8141-5712, Ghaffari-Tabrizi-Wizsy, N., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Juch, H., Nonn, O. ORCID logoORCID: https://orcid.org/0000-0001-6385-2866 and Gauster, M. ORCID logoORCID: https://orcid.org/0000-0003-0386-6857
International Journal of Molecular Sciences 23 (20): 12326. October 2022

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen, N., Krawczyk, H.E., Jamra, R.A., Lin, S.J. ORCID logoORCID: https://orcid.org/0000-0002-7559-6529, Yigit, G., Hüning, I., Polo, A.M., Vona, B. ORCID logoORCID: https://orcid.org/0000-0002-6719-3447, Huang, K., Schmidt, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Luppe, J., Platzer, K., Dörgeloh, B.B., Busche, A., Biskup, S., Mendes, M.I., Smith, D.E.C., Salomons, G.S., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J.R., Li, Y., Zenker, M. ORCID logoORCID: https://orcid.org/0000-0003-1618-9269, Varshney, G.K., Hillen, H.S., Kratz, C.P. and Wollnik, B.
Human Mutation 43 (10): 1454-1471. October 2022

Reliable assessment of telomere maintenance mechanisms in neuroblastoma.
Meeser, A., Bartenhagen, C., Werr, L., Hellmann, A.M., Kahlert, Y., Hemstedt, N., Nürnberg, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ackermann, S., Hero, B., Simon, T., Peifer, M., Fischer, M. and Rosswog, C. ORCID logoORCID: https://orcid.org/0000-0002-8855-6198
Cell and Bioscience 12 (1): 160. 24 September 2022

Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis.
Leenen, E., Erger, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Wenzel, A., Thiele, H., Harth, A., Tschernoster, N., Lokhande, S., Joerres, A., Becker, J.U., Ekici, A., Huettel, B., Beck, B. and Weidemann, A.
Nephrology Dialysis Transplantation 37 (10): 1895-1905. 22 September 2022

Mutations in TAF8 cause a neurodegenerative disorder.
Wong, K.M. ORCID logoORCID: https://orcid.org/0000-0002-5449-6318, Jepsen, W.M., Efthymiou, S., Salpietro, V., Sanchez-Castillo, M., Yip, J., Kriouile, Y., Diegmann, S. ORCID logoORCID: https://orcid.org/0000-0001-9134-6303, Dreha-Kulaczewski, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Toosi, M.B., Akhondian, J., Ghayoor Karimiani, E., Hummel-Abmeier, H., Huppke, B., Houlden, H. ORCID logoORCID: https://orcid.org/0000-0002-2866-7777, Gärtner, J., Maroofian, R. and Huppke, P.
Brain 145 (9): 3022-3034. September 2022

Single cell‐ and spatial 'omics revolutionize physiology.
Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295 and Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521
Acta Physiologica 235 (4): e13848. August 2022

Full-length spatial transcriptomics reveals the unexplored isoform diversity of the myocardium post-MI.
Boileau, E., Li, X., Naarmann-de Vries, I.S., Becker, C., Casper, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Leuschner, F. and Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311
Frontiers in Genetics 13 : 912572. 22 July 2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A.A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., Samra, N.G., Savatt, J.M., Rudy, N.L., De Luca, C., Fortugno, P., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nürnberg, P. and Hussain, M.S.
Human Genetics and Genomics Advances 3 (3): 100111. 14 July 2022

Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry.
Dumont, M. ORCID logoORCID: https://orcid.org/0000-0002-5488-4839, Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C. ORCID logoORCID: https://orcid.org/0000-0001-7756-8815, Droit, A., Feng, B.J., Dubois, S., Collin-Deschesnes, A.C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A. ORCID logoORCID: https://orcid.org/0000-0002-1817-7029, Adank, M.A., Allen, J. ORCID logoORCID: https://orcid.org/0000-0002-8677-2225, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Arnold, N., Ausems, M.G.E.M. ORCID logoORCID: https://orcid.org/0000-0003-0305-3477, Berutti, R., Bolla, M.K., Bull, S. ORCID logoORCID: https://orcid.org/0000-0002-3280-7154, Carvalho, S., Cornelissen, S., Dufault, M.R., Dunning, A.M., Engel, C. ORCID logoORCID: https://orcid.org/0000-0002-7247-282X, Gehrig, A., Geurts-Giele, W.R.R., Gieger, C., Green, J. ORCID logoORCID: https://orcid.org/0000-0002-7005-2928, Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F.B.L., Hollestelle, A. ORCID logoORCID: https://orcid.org/0000-0003-1166-1966, Hooning, M.J., Horváth, J., Ikram, M.A., Kaulfuß, S. ORCID logoORCID: https://orcid.org/0000-0003-2577-9711, Keeman, R., Kuang, D. ORCID logoORCID: https://orcid.org/0000-0003-3554-0464, Luccarini, C., Maier, W., Martens, J.W.M. ORCID logoORCID: https://orcid.org/0000-0002-3428-3366, Niederacher, D., Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Ott, C.E. ORCID logoORCID: https://orcid.org/0000-0003-3627-3791, Peters, A. ORCID logoORCID: https://orcid.org/0000-0001-6645-0985, Pharoah, P.D.P., Ramirez, A. ORCID logoORCID: https://orcid.org/0000-0003-4991-763X, Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stäbler, A., Strom, T.M., Sutter, C., Thiele, H., van Asperen, C.J., van der Kolk, L., van der Luijt, R.B., Volk, A.E., Wagner, M. ORCID logoORCID: https://orcid.org/0000-0003-2589-6440, Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B.H.F. ORCID logoORCID: https://orcid.org/0000-0002-8808-7723, Devilee, P. ORCID logoORCID: https://orcid.org/0000-0002-8023-2009, Tavtigian, S., Bader, G.D. ORCID logoORCID: https://orcid.org/0000-0003-0185-8861, Meindl, A., Goldgar, D.E., Andrulis, I.L. ORCID logoORCID: https://orcid.org/0000-0002-4226-6435, Schmutzler, R.K., Easton, D.F., Schmidt, M.K. ORCID logoORCID: https://orcid.org/0000-0002-2228-429X, Hahnen, E. and Simard, J. ORCID logoORCID: https://orcid.org/0000-0001-6906-3390
Cancers 14 (14): 3363. 11 July 2022

Prevalence of cancer predisposition germline variants in male breast cancer patients: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Rolfes, M., Borde, J., Möllenhoff, K. ORCID logoORCID: https://orcid.org/0000-0001-7861-3892, Kayali, M., Ernst, C. ORCID logoORCID: https://orcid.org/0000-0001-7756-8815, Gehrig, A., Sutter, C. ORCID logoORCID: https://orcid.org/0000-0003-4051-5888, Ramser, J., Niederacher, D., Horváth, J., Arnold, N., Meindl, A., Auber, B., Rump, A., Wang-Gohrke, S., Ritter, J., Hentschel, J., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Rhiem, K., Engel, C., Wappenschmidt, B., Schmutzler, R.K., Hahnen, E. and Hauke, J.
Cancers 14 (13): 3292. 5 July 2022

Spermidine reduces neuroinflammation and soluble amyloid beta in an Alzheimer’s disease mouse model.
Freitag, K. ORCID logoORCID: https://orcid.org/0000-0002-5244-3140, Sterczyk, N., Wendlinger, S. ORCID logoORCID: https://orcid.org/0000-0001-6771-4794, Obermayer, B. ORCID logoORCID: https://orcid.org/0000-0002-9116-630X, Schulz, J., Farztdinov, V., Mülleder, M., Ralser, M., Houtman, J., Fleck, L., Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Sansevrino, R., Hoffmann, C., Milovanovic, D., Sigrist, S.J., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Heppner, F.L. and Jendrach, M.
Journal of Neuroinflammation 19 (1): 172. 2 July 2022

De novo whole genome assembly of the Roborovski dwarf hamster (Phodopus roborovskii) genome, an animal model for severe/critical COVID-19.
Andreotti, S. ORCID logoORCID: https://orcid.org/0000-0001-7678-9720, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Nouailles, G., Teixeira Alves, L.G. ORCID logoORCID: https://orcid.org/0000-0002-5822-4168, Landthaler, M. ORCID logoORCID: https://orcid.org/0000-0002-1075-8734, Bieniara, M., Trimpert, J. and Wyler, E. ORCID logoORCID: https://orcid.org/0000-0002-9884-1806
Genome Biology and Evolution 14 (7): evac100. July 2022

Male carriers of HLA-C*04:01 have increased risk of cardiac injury in COVID-19.
Suwalski, P. ORCID logoORCID: https://orcid.org/0000-0002-2678-2595, Violano, M., Müller, M., Patriki, D., Thibeault, C. ORCID logoORCID: https://orcid.org/0000-0002-8979-9386, Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H. ORCID logoORCID: https://orcid.org/0000-0001-5969-2089, Hinzmann, B. ORCID logoORCID: https://orcid.org/0000-0003-0229-3081, Beer, H.J., Wiggli, B., Siemann, S., Suttorp, N. ORCID logoORCID: https://orcid.org/0000-0002-3958-1151, Witzenrath, M. ORCID logoORCID: https://orcid.org/0000-0002-9787-5633, Hippenstiel, S. ORCID logoORCID: https://orcid.org/0000-0002-5146-1064, Skurk, C. ORCID logoORCID: https://orcid.org/0000-0003-4953-601X, Poller, W. ORCID logoORCID: https://orcid.org/0000-0002-2805-6634, Sander, L.E. ORCID logoORCID: https://orcid.org/0000-0002-0476-9947, Kurth, F. ORCID logoORCID: https://orcid.org/0000-0002-3807-473X, Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Guettouche, T., Landmesser, U. ORCID logoORCID: https://orcid.org/0000-0002-0214-3203 and Heidecker, B. ORCID logoORCID: https://orcid.org/0000-0002-3811-7920
Journal of Cardiovascular Aging 2 (3): 33. 27 June 2022

Tongue immune compartment analysis reveals spatial macrophage heterogeneity.
Lyras, E.M. ORCID logoORCID: https://orcid.org/0000-0003-3269-0854, Zimmermann, K., Wagner, L.K., Dörr, D. ORCID logoORCID: https://orcid.org/0000-0001-8575-7560, Klose, C.S.N, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Jung, S. ORCID logoORCID: https://orcid.org/0000-0003-4290-5716, Yona, S. ORCID logoORCID: https://orcid.org/0000-0002-3984-2008, Hovav, A.H., Stenzel, W., Dommerich, S., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Leutz, A. ORCID logoORCID: https://orcid.org/0000-0001-8259-927X and Mildner, A. ORCID logoORCID: https://orcid.org/0000-0002-2019-8427
eLife 11 : 77490. 24 June 2022

Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance.
Schlautmann, L.P. ORCID logoORCID: https://orcid.org/0000-0001-7439-7723, Lackmann, J.W. ORCID logoORCID: https://orcid.org/0000-0001-8182-8034, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311, Boehm, V. ORCID logoORCID: https://orcid.org/0000-0001-7588-9842 and Gehring, N.H. ORCID logoORCID: https://orcid.org/0000-0001-7792-1164
Nucleic Acids Research 50 (10): 5899-5918. 10 June 2022

Unraveling structural rearrangements of the CFH gene cluster in atypical hemolytic uremic syndrome patients using molecular combing and long-fragment targeted sequencing.
Tschernoster, N., Erger, F., Walsh, P.R., McNicholas, B., Fistrek, M., Habbig, S., Schumacher, L., Folz-Donahue, K., Kukat, C., Toliat, M.R., Becker, C., Thiele, H., Kavanagh, D., Nürnberg, P., Beck, B. and Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521
Journal of Molecular Diagnostics 24 (6): 619-631. June 2022

Generation of hiPSC-derived skeletal muscle cells: exploiting the potential of skeletal muscle-derived hiPSCs.
Metzler, E. ORCID logoORCID: https://orcid.org/0000-0003-1735-6364, Escobar, H. ORCID logoORCID: https://orcid.org/0000-0002-8128-7845, Sunaga-Franze, D.Y. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Diecke, S. ORCID logoORCID: https://orcid.org/0000-0002-5219-5992 and Spuler, S. ORCID logoORCID: https://orcid.org/0000-0002-0155-1117
Biomedicines 10 (5): 1204. 23 May 2022

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit, G., Sheffer, R., Daana, M., Li, Y., Kaygusuz, E., Mor-Shakad, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Douiev, L., Kaulfuss, S., Burfeind, P., Wollnik, B. ORCID logoORCID: https://orcid.org/0000-0003-2589-0364 and Brockmann, K. ORCID logoORCID: https://orcid.org/0000-0001-6823-9091
Journal of Medical Genetics 59 (6): 549-553. 20 May 2022

Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.
Wallmeroth, D. ORCID logoORCID: https://orcid.org/0000-0003-3437-4070, Lackmann, J.W. ORCID logoORCID: https://orcid.org/0000-0001-8182-8034, Kueckelmann, S. ORCID logoORCID: https://orcid.org/0000-0001-8070-8823, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311, Boehm, V. ORCID logoORCID: https://orcid.org/0000-0001-7588-9842 and Gehring, N.H. ORCID logoORCID: https://orcid.org/0000-0001-7792-1164
EMBO Journal 41 (10): e109191. 16 May 2022

RNA modification mapping with JACUSA2.
Piechotta, M., Naarmann-de Vries, I.S., Wang, Q., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311
Genome Biology 23 (1): 115. 16 May 2022

Noncanonical function of AGO2 augments T-cell receptor signaling in T-cell prolymphocytic leukemia.
Braun, T. ORCID logoORCID: https://orcid.org/0000-0002-0854-7815, Stachelscheid, J., Bley, N. ORCID logoORCID: https://orcid.org/0000-0002-4531-7998, Oberbeck, S. ORCID logoORCID: https://orcid.org/0000-0002-0657-5281, Otte, M., Müller, T.A., Wahnschaffe, L., Glaß, M. ORCID logoORCID: https://orcid.org/0000-0003-2718-8907, Ommer, K., Franitza, M., Gathof, B. ORCID logoORCID: https://orcid.org/0000-0001-6336-3640, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hallek, M., Auguin, D. ORCID logoORCID: https://orcid.org/0000-0003-4713-9096, Hüttelmaier, S. ORCID logoORCID: https://orcid.org/0000-0001-9335-4227, Schrader, A. and Herling, M.
Cancer Research 82 (9): 1818-1831. 1 May 2022

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter, M.S. ORCID logoORCID: https://orcid.org/0000-0001-8662-6685, Zech, M., Hempel, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Heung, T., Pölsler, L. ORCID logoORCID: https://orcid.org/0000-0002-1796-2287, Santer, R. ORCID logoORCID: https://orcid.org/0000-0002-3670-5657, Thiele, H., Trost, B. ORCID logoORCID: https://orcid.org/0000-0003-4863-7273, Kubisch, C., Scherer, S.W. ORCID logoORCID: https://orcid.org/0000-0002-8326-1999, Rudnik-Schöneborn, S., Bassett, A.S. ORCID logoORCID: https://orcid.org/0000-0002-0681-7279 and Lessel, D. ORCID logoORCID: https://orcid.org/0000-0003-4496-244X
European Journal of Human Genetics 30 (5): 611-618. May 2022

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc, I.I. ORCID logoORCID: https://orcid.org/0000-0002-7583-0872, Elcioglu, N.H., Martinez Grijalva, C. ORCID logoORCID: https://orcid.org/0000-0002-0901-376X, Aras, S., Großmann, N., Praulich, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kaulfuß, S., Li, Y., Nürnberg, P., Burfeind, P., Yigit, G. ORCID logoORCID: https://orcid.org/0000-0003-2777-0198 and Wollnik, B.
Clinical Genetics 101 (5-6): 559-564. May 2022

RB1-negative retinal organoids display proliferation of cone photoreceptors and loss of retinal differentiation.
Kanber, D., Woestefeld, J., Döpper, H., Bozet, M., Brenzel, A. ORCID logoORCID: https://orcid.org/0000-0002-6797-5457, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kilpert, F., Lohmann, D. ORCID logoORCID: https://orcid.org/0000-0002-2624-9889, Pommerenke, C. ORCID logoORCID: https://orcid.org/0000-0002-9448-416X and Steenpass, L. ORCID logoORCID: https://orcid.org/0000-0003-4780-0139
Cancers 14 (9): 2166. 26 April 2022

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif, M., Mocanu, I.D., Abdullah, U., Höhne, W., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Makhdoom, E.U.H., Thiele, H., Baig, S.M., Nürnberg, P., Graul-Neumann, L. ORCID logoORCID: https://orcid.org/0000-0002-6540-6314 and Hussain, M.S. ORCID logoORCID: https://orcid.org/0000-0002-1353-8809
American Journal of Medical Genetics A 188 (4): 1251-1258. April 2022

Claudin-10a deficiency shifts proximal tubular Cl(-) permeability to cation selectivity via claudin-2 redistribution.
Breiderhoff, T. ORCID logoORCID: https://orcid.org/0000-0002-1676-7498, Himmerkus, N. ORCID logoORCID: https://orcid.org/0000-0002-2910-6728, Meoli, L. ORCID logoORCID: https://orcid.org/0000-0002-9853-2624, Fromm, A. ORCID logoORCID: https://orcid.org/0000-0003-4091-9612, Sewerin, S. ORCID logoORCID: https://orcid.org/0000-0002-9094-9636, Kriuchkova, N. ORCID logoORCID: https://orcid.org/0000-0002-9795-2440, Nagel, O. ORCID logoORCID: https://orcid.org/0000-0001-6026-2676, Ladilov, Y. ORCID logoORCID: https://orcid.org/0000-0002-9836-8801, Krug, S. ORCID logoORCID: https://orcid.org/0000-0002-1293-2484, Quintanova, C. ORCID logoORCID: https://orcid.org/0000-0001-6617-2006, Stumpp, M. ORCID logoORCID: https://orcid.org/0000-0001-7765-2996, Garbe-Schönberg, D. ORCID logoORCID: https://orcid.org/0000-0001-9006-9463, Westernströer, U., Merkel, C., Brinkhus, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Schweiger, M. ORCID logoORCID: https://orcid.org/0000-0002-4672-0623, Mueller, D. ORCID logoORCID: https://orcid.org/0000-0002-3478-1576, Mutig, K. ORCID logoORCID: https://orcid.org/0000-0001-9006-5112, Morawski, M. ORCID logoORCID: https://orcid.org/0000-0002-3817-5186, Halbritter, J. ORCID logoORCID: https://orcid.org/0000-0002-1377-9880, Milatz, S. ORCID logoORCID: https://orcid.org/0000-0001-9893-0473, Bleich, M. ORCID logoORCID: https://orcid.org/0000-0002-1745-2295 and Günzel, D. ORCID logoORCID: https://orcid.org/0000-0002-7998-7164
Journal of the American Society of Nephrology 33 (4): 699-717. April 2022

Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection clusters based on integrated genomic surveillance, outbreak analysis and contact tracing in an urban setting.
Walker, A., Houwaart, T., Finzer, P., Ehlkes, L., Tyshaieva, A., Damagnez, M., Strelow, D., Duplessis, A., Nicolai, J., Wienemann, T., Tamayo, T., Kohns Vasconcelos, M., Hülse, L., Hoffmann, K., Lübke, N., Hauka, S., Andree, M., Däumer, M.P., Thielen, A., Kolbe-Busch, S., Göbels, K., Zotz, R., Pfeffer, K., Timm, J. and Dilthey, A.T.
Clinical Infectious Diseases 74 (6): 1039-1046. 15 March 2022

Association of ultra-rare coding variants with genetic generalized epilepsy: a case-control whole exome sequencing study.
Koko, M. ORCID logoORCID: https://orcid.org/0000-0001-9512-0184, Motelow, J.E. ORCID logoORCID: https://orcid.org/0000-0002-4367-4182, Stanley, K.E. ORCID logoORCID: https://orcid.org/0000-0002-2861-9660, Bobbili, D.R. ORCID logoORCID: https://orcid.org/0000-0002-1368-9623, Dhindsa, R.S. ORCID logoORCID: https://orcid.org/0000-0002-8965-0813 and May, P. ORCID logoORCID: https://orcid.org/0000-0001-8698-3770
Epilepsia 63 (3): 723-735. March 2022

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Marko, H.L., Hornig, N.C., Betz, R.C., Holterhus, P.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Fabiano, M., Schweikert, H.U., Braun, D. and Schweizer, U. ORCID logoORCID: https://orcid.org/0000-0003-1380-4780
Human Mutation 43 (3): 420-433. March 2022

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J. ORCID logoORCID: https://orcid.org/0000-0001-8236-4075, Harter, P., Ernst, C. ORCID logoORCID: https://orcid.org/0000-0001-7756-8815, Burges, A., Schmidt, S., Reuss, A., Borde, J., De Gregorio, N., Dietrich, D., El-Balat, A., Kayali, M., Gevensleben, H., Hilpert, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Heimbach, A., Meier, W., Schoemig-Markiefka, B., Thiele, H., Kimmig, R., Nürnberg, P., Kast, K., Richters, L., Sehouli, J., Schmutzler, R.K. and Hahnen, E. ORCID logoORCID: https://orcid.org/0000-0002-1152-8367
Journal of Medical Genetics 59 (3): 248-252. March 2022

MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Reusch, B., Bartram, M.P., Dafinger, C., Palacio-Escat, N., Wenzel, A., Fenton, R.A., Saez-Rodriguez, J., Schermer, B., Benzing, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Beck, B.B. and Rinschen, M.M.
Journal of Proteomics 252 : 104424. 10 February 2022

Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue.
Hilgers, L. ORCID logoORCID: https://orcid.org/0000-0002-3539-2513, Roth, O., Nolte, A.W., Schüller, A., Spanke, T., Flury, J.M., Utama, I.V., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Wowor, D., Misof, B., Herder, F., Böhne, A. and Schwarzer, J.
Current Biology 32 (3): 715-724. 7 February 2022

Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Schmidt, J. ORCID logoORCID: https://orcid.org/0000-0002-5942-2924, Schreiber, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Li, Y., Kaulfuß, S., Funke, R., Wilken, B., Yigit, G. ORCID logoORCID: https://orcid.org/0000-0003-2777-0198 and Wollnik, B. ORCID logoORCID: https://orcid.org/0000-0003-2589-0364
European Journal of Human Genetics 30 (2): 211-218. February 2022

Genomic basis of syndromic short stature in an Algerian patient cohort.
Moosa, S. ORCID logoORCID: https://orcid.org/0000-0002-4463-3067, Chentli, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Bögershausen, N., Nürnberg, P., Yigit, G., Li, Y. and Wollnik, B.
American Journal of Medical Genetics A 188 (2): 606-612. February 2022

A growth factor-expressing macrophage subpopulation orchestrates regenerative inflammation via GDF-15.
Patsalos, A. ORCID logoORCID: https://orcid.org/0000-0002-9022-4985, Halasz, L. ORCID logoORCID: https://orcid.org/0000-0003-4726-7012, Medina-Serpas, M.A. ORCID logoORCID: https://orcid.org/0000-0003-0532-5413, Berger, W.K. ORCID logoORCID: https://orcid.org/0000-0003-0727-7064, Daniel, B. ORCID logoORCID: https://orcid.org/0000-0002-2410-8767, Tzerpos, P. ORCID logoORCID: https://orcid.org/0000-0002-0398-0855, Kiss, M. ORCID logoORCID: https://orcid.org/0000-0002-5649-0382, Nagy, G. ORCID logoORCID: https://orcid.org/0000-0002-3273-731X, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Simandi, Z. ORCID logoORCID: https://orcid.org/0000-0001-8894-1259, Varga, T. ORCID logoORCID: https://orcid.org/0000-0002-5303-1850 and Nagy, L. ORCID logoORCID: https://orcid.org/0000-0001-6653-2155
Journal of Experimental Medicine 219 (1): e20210420. 3 January 2022

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
Lessel, D. ORCID logoORCID: https://orcid.org/0000-0003-4496-244X, Rading, K., Campbell, S.E., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Gordon, L.B. and Kubisch, C.
American Journal of Medical Genetics A 188 (1): 216-223. January 2022

Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways.
Braun, T., Glass, M., Wahnschaffe, L., Otte, M., Mayer, P., Franitza, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hallek, M., Hüttelmaier, S., Schrader, A. and Herling, M.
Haematologica 107 (1): 187-200. January 2022

2021

Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer.
Schaufler, D., Ast, D.F. ORCID logoORCID: https://orcid.org/0000-0001-6699-0754, Tumbrink, H.L., Abedpour, N., Maas, L., Schwäbe, A.E. ORCID logoORCID: https://orcid.org/0000-0002-9435-9000, Spille, I., Lennartz, S., Fassunke, J., Aldea, M., Besse, B., Planchard, D., Nogova, L., Michels, S., Kobe, C. ORCID logoORCID: https://orcid.org/0000-0002-2909-0826, Persigehl, T., Westphal, T., Koleczko, S., Fischer, R., Weber, J.P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thomas, R.K., Merkelbach-Bruse, S., Gautschi, O., Mezquita, L., Büttner, R. ORCID logoORCID: https://orcid.org/0000-0001-8806-4786, Wolf, J., Peifer, M. ORCID logoORCID: https://orcid.org/0000-0002-5243-5503, Brägelmann, J. ORCID logoORCID: https://orcid.org/0000-0002-1306-2169, Scheffler, M. ORCID logoORCID: https://orcid.org/0000-0002-9031-1368 and Sos, M.L. ORCID logoORCID: https://orcid.org/0000-0002-2868-100X
npj Precision Oncology 5 (1): 102. 17 December 2021

Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt, J. ORCID logoORCID: https://orcid.org/0000-0002-5942-2924, Goergens, J., Pochechueva, T., Kotter, A., Schwenzer, N., Sitte, M., Werner, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Isensee, J., Li, Y., Müller, C., Leube, B., Reinhardt, H.C., Hucho, T., Salinas, G., Helm, M., Jachimowicz, R.D., Wieczorek, D., Kohl, T., Lehnart, S.E. ORCID logoORCID: https://orcid.org/0000-0002-8115-3513, Yigit, G. and Wollnik, B.
Human Genetics 140 (12): 1679-1693. December 2021

Chromothripsis followed by circular recombination drives oncogene amplification in human cancer.
Rosswog, C., Bartenhagen, C., Welte, A. ORCID logoORCID: https://orcid.org/0000-0002-3695-4856, Kahlert, Y., Hemstedt, N., Lorenz, W., Cartolano, M., Ackermann, S. ORCID logoORCID: https://orcid.org/0000-0002-5869-7344, Perner, S., Vogel, W., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Hertwig, F., Göhring, G., Lilienweiss, E., Stütz, A.M., Korbel, J.O. ORCID logoORCID: https://orcid.org/0000-0002-2798-3794, Thomas, R.K., Peifer, M. ORCID logoORCID: https://orcid.org/0000-0002-5243-5503 and Fischer, M. ORCID logoORCID: https://orcid.org/0000-0003-1363-1242
Nature Genetics 53 (12): 1673–1685. December 2021

Mapping the human genetic architecture of COVID-19.

Nature 600 (7889): 472-477. December 2021

Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior.
Errbii, M. ORCID logoORCID: https://orcid.org/0000-0001-7719-0998, Keilwagen, J., Hoff, K.J., Steffen, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Oettler, J. and Schrader, L.
Molecular Ecology 30 (23): 6211-6228. December 2021

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne, C., Peters, S., Cartolano, M., Horpaopan, S., Grimm, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Sommer, A.K. ORCID logoORCID: https://orcid.org/0000-0001-6850-9290, Hillmer, A.M., Thiele, H., Odenthal, M., Möslein, G., Adam, R., Sivalingam, S., Kirfel, J., Schweiger, M.R., Peifer, M., Spier, I. and Aretz, S. ORCID logoORCID: https://orcid.org/0000-0002-5228-1890
PLoS ONE 16 (11): e0259185. 29 November 2021

R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage.
Chatzidoukaki, O., Stratigi, K., Goulielmaki, E., Niotis, G., Akalestou-Clocher, A., Gkirtzimanaki, K., Zafeiropoulos, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Topalis, P. and Garinis, G.A.
Science Advances 7 (47): eabj5769. 19 November 2021

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19.
Krämer, B., Knoll, R. ORCID logoORCID: https://orcid.org/0000-0001-8320-5885, Bonaguro, L., ToVinh, M. ORCID logoORCID: https://orcid.org/0000-0002-1625-9741, Raabe, J. ORCID logoORCID: https://orcid.org/0000-0002-6894-1451, Astaburuaga-García, R., Schulte-Schrepping, J., Kaiser, K.M., Rieke, G.J., Bischoff, J., Monin, M.B., Hoffmeister, C. ORCID logoORCID: https://orcid.org/0000-0001-6473-4087, Schlabe, S., De Domenico, E., Reusch, N. ORCID logoORCID: https://orcid.org/0000-0001-5625-0701, Händler, K., Reynolds, G., Blüthgen, N. ORCID logoORCID: https://orcid.org/0000-0002-0171-7447, Hack, G., Finnemann, C., Nischalke, H.D., Strassburg, C.P., Stephenson, E., Su, Y., Gardner, L., Yuan, D., Chen, D., Goldman, J., Rosenstiel, P., Schmidt, S.V., Latz, E., Hrusovsky, K., Ball, A.J., Johnson, J.M., Koenig, P.A., Schmidt, F.I., Haniffa, M., Heath, J.R., Kümmerer, B.M., Keitel, V., Jensen, B., Stubbemann, P., Kurth, F., Sander, L.E., Sawitzki, B., Aschenbrenner, A.C., Schultze, J.L. and Nattermann, J.
Immunity 54 (11): 2650-2669. 9 November 2021

A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover.
Boileau, E., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Naarmann-de Vries, I.S. and Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311
Briefings in Bioinformatics 22 (6): bbab219. November 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal, M., Maroofian, R., Çavdarlı, B., Riccardi, F., Field, M., Banka, S., Bubshait, D.K., Li, Y., Hertecant, J., Baig, S.M., Dyment, D., Efthymiou, S., Abdullah, U., Makhdoom, E.U.H., Ali, Z., Scherf de Almeida, T, Molinari, F., Mignon-Ravix, C., Chabrol, B., Antony, J., Ades, L., Pagnamenta, A.T., Jackson, A., Douzgou, S., Beetz, C., Karageorgou, V., Vona, B., Rad, A., Baig, J.M., Sultan, T., Alvi, J.R., Maqbool, S., Rahman, F., Toosi, M.B., Ashrafzadeh, F., Imannezhad, S., Karimiani, E.G., Sarwar, Y., Khan, S., Jameel, M., Noegel, A.A., Budde, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Höhne, W., Houlden, H., Nürnberg, P., Wollnik, B., Villard, L., Alkuraya, F.S., Osmond, M., Hussain, M.S. and Yigit, G. ORCID logoORCID: https://orcid.org/0000-0003-2777-0198
Genetics in Medicine 23 (11): 2138-2149. November 2021

mTOR-activating mutations in RRAGD are causative for kidney tubulopathy and cardiomyopathy.
Schlingmann, K.P. ORCID logoORCID: https://orcid.org/0000-0002-7245-6301, Jouret, F. ORCID logoORCID: https://orcid.org/0000-0003-2547-6593, Shen, K., Nigam, A., Arjona, F., Dafinger, C., Houillier, P., Jones, D., Kleinerüschkamp, F., Oh, J., Godefroid, N., Eltan, M., Güran, T., Burtey, S., Parotte, M.C., König, J., Braun, A., Bos, C. ORCID logoORCID: https://orcid.org/0000-0001-5016-9435, Serra, M.I., Rehmann, H., Zwartkruis, F. ORCID logoORCID: https://orcid.org/0000-0001-5775-1313, Renkema, K. ORCID logoORCID: https://orcid.org/0000-0003-3922-9382, Klingel, K., Schulze-Bahr, E. ORCID logoORCID: https://orcid.org/0000-0001-6884-2501, Schermer, B., Bergmann, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Beck, B. ORCID logoORCID: https://orcid.org/0000-0003-0495-7670, Dahan, K., Sabatini, D., Liebau, M. ORCID logoORCID: https://orcid.org/0000-0003-0494-9080, Vargas-Poussou, R. ORCID logoORCID: https://orcid.org/0000-0002-4169-0680, Knoers, N. ORCID logoORCID: https://orcid.org/0000-0001-7454-7795, Konrad, M. and de Baaij, J. ORCID logoORCID: https://orcid.org/0000-0003-2372-8486
Journal of the American Society of Nephrology 32 (11): 2885-2899. November 2021

RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis.
Zhang, S., Übelmesser, N., Josipovic, N., Forte, G., Slotman, J.A., Chiang, M., Gothe, H.J., Gusmao, E.G., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Houtsmuller, A.B., Roukos, V., Wendt, K.S., Marenduzzo, D. and Papantonis, A.
Science Advances 7 (43): eabg8205. 22 October 2021

In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin’s lymphoma and facilitates ultrasensitive residual disease detection.
Sobesky, S., Mammadova, L., Cirillo, M., Drees, E.E.E., Mattlener, J., Dörr, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Shi, Z., Bröckelmann, P.J., Weiss, J., Kreissl, S., Sasse, S., Ullrich, R.T., Reinke, S. ORCID logoORCID: https://orcid.org/0000-0001-9729-4030, Klapper, W., Gerhard-Hartmann, E., Rosenwald, A., Roemer, M.G.M., Nürnberg, P., Hagenbeek, A., Zijlstra, J.M., Pegtel, D.M., Engert, A., Borchmann, P., von Tresckow, B. and Borchmann, S. ORCID logoORCID: https://orcid.org/0000-0001-6662-6864
Med 2 (10): 1171-1193. 8 October 2021

A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family.
Waseem, S.S., Moawia, A., Budde, B. ORCID logoORCID: https://orcid.org/0000-0001-9385-4168, Tariq, M. ORCID logoORCID: https://orcid.org/0000-0002-5334-403X, Khan, A. ORCID logoORCID: https://orcid.org/0000-0002-4743-7387, Ali, Z. ORCID logoORCID: https://orcid.org/0000-0002-2389-3337, Khan, S. ORCID logoORCID: https://orcid.org/0000-0003-3207-4074, Iqbal, M., Malik, N.A., Haque, S.U., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Hussain, M.S. ORCID logoORCID: https://orcid.org/0000-0002-1353-8809, Cirak, S., Baig, S.M. and Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X
Genes 12 (10): 1494. October 2021

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Kloth, K., Lozic, B., Tagoe, J., Hoffer, M.J.V., Van der Ven, A., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kubisch, C., Au, P.Y.B., Denecke, J., Bijlsma, E.K. and Lessel, D. ORCID logoORCID: https://orcid.org/0000-0003-4496-244X
Neurogenetics 22 (4): 263-269. October 2021

Human brain organoids assemble functionally integrated bilateral optic vesicles.
Gabriel, E. ORCID logoORCID: https://orcid.org/0000-0001-7473-0530, Albanna, W., Pasquini, Gi. ORCID logoORCID: https://orcid.org/0000-0002-5750-6307, Ramani, A., Josipovic, N., Mariappan, A., Schinzel, F., Karch, C.M., Bao, G., Gottardo, M., Suren, A.A. ORCID logoORCID: https://orcid.org/0000-0002-6063-8626, Hescheler, J., Nagel-Wolfrum, K. ORCID logoORCID: https://orcid.org/0000-0001-7924-2018, Persico, V., Rizzoli, S.O., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Riparbelli, M.G., Callaini, G., Goureau, O., Papantonis, A., Busskamp, V., Schneider, T. ORCID logoORCID: https://orcid.org/0000-0003-2816-2696 and Gopalakrishnan, J.
Cell Stem Cell 28 (10): 1740-1757.e8. October 2021

Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.
Weiner, J. ORCID logoORCID: https://orcid.org/0000-0003-1438-7819, Suwalski, P., Holtgrewe, M. ORCID logoORCID: https://orcid.org/0000-0002-3051-1763, Rakitko, A. ORCID logoORCID: https://orcid.org/0000-0003-0567-7734, Thibeault, C., Müller, M., Patriki, D., Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Krüger, U., Ilinsky, V. ORCID logoORCID: https://orcid.org/0000-0003-4377-2759, Popov, I., Balnis, J., Jaitovich, A., Helbig, E.T., Lippert, L.J., Stubbemann, P., Real, L.M., Macías, J., Pineda, J.A., Fernandez-Fuertes, M., Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H., Hinzmann, B., Salvo, M., Blueher, A., Siemann, S., Jurisic, S., Beer, J.H., Rutishauser, J., Wiggli, B., Schmid, H., Danninger, K., Binder, R., Corman, V.M., Mühlemann, B., Arjun Arkal, R., Fragiadakis, G.K., Mick, E. ORCID logoORCID: https://orcid.org/0000-0002-7299-808X, Calfee, C.S., Erle, D.J., Hendrickson, C.M., Kangelaris, K.N., Krummel, M.F., Woodruff, P.G., Langelier, C.R., Venkataramani, U., García, F., Zyla, J. ORCID logoORCID: https://orcid.org/0000-0002-2895-7969, Drosten, C., Braun, A. ORCID logoORCID: https://orcid.org/0000-0003-1145-0261, Jones, T.C., Suttorp, N., Witzenrath, M., Hippenstiel, S., Zemojtel, T., Skurk, C., Wolfgang, P., Borodina, T. ORCID logoORCID: https://orcid.org/0000-0002-6978-016X, Ripke, S., Sander, L.E., Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Landmesser, U., Guettouche, T., Kurth, F. and Heidecker, B.
EClinicalMedicine 40 : 101099. October 2021

MFSD2A-associated primary microcephaly - expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller, K. ORCID logoORCID: https://orcid.org/0000-0003-4765-0572, Yigit, G., Martínez Grijalva, C. ORCID logoORCID: https://orcid.org/0000-0002-0901-376X, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Elcioglu, N.H., Yeter, B. ORCID logoORCID: https://orcid.org/0000-0002-6255-1057, Hehr, U., Stein, A., Della Marina, A., Köninger, A., Depienne, C., Kaiser, F.J., Wollnik, B. and Kuechler, A.
European Journal of Medical Genetics 64 (10): 104310. October 2021

Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage.
Bubb, K., Holzer, T., Nolte, J.L., Krüger, M. ORCID logoORCID: https://orcid.org/0000-0002-5846-6941, Wilson, R. ORCID logoORCID: https://orcid.org/0000-0003-0152-4394, Schlötzer-Schrehardt, U., Brinckmann, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Aszodi, A., Fleischhauer, L., Clausen-Schaumann, H. ORCID logoORCID: https://orcid.org/0000-0002-9413-0310, Probst, K. and Brachvogel, B. ORCID logoORCID: https://orcid.org/0000-0002-3923-0554
Journal of Biological Chemistry 297 (4): 101224. October 2021

Altered DNA methylation profiles in SF3B1 mutated CLL patients.
Pacholewska, A. ORCID logoORCID: https://orcid.org/0000-0002-4888-4883, Grimm, C. ORCID logoORCID: https://orcid.org/0000-0002-4676-8870, Herling, C.D., Lienhard, M. ORCID logoORCID: https://orcid.org/0000-0002-2549-3142, Königs, A., Timmermann, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Mücke, O., Reinhardt, H.C., Plass, C., Herwig, R. ORCID logoORCID: https://orcid.org/0000-0002-9335-1760, Hallek, M. and Schweiger, M.R.
International Journal of Molecular Sciences 22 (17): 9337. 1 September 2021

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko, M., Yahia, A., Elsayed, L.E., Hamed, A.A., Mohammed, I.N., Elseed, M.A., Hamad, M.H.A., Babai, A.M., Siddig, R.A., Abd Allah, A.S.I., Mohamed, M., El-Amin, M., Esteves, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Toliat, M.R., Thiele, H., Nürnberg, P., Salih, M.A., Ahmed, A.E., Lerche, H. and Stevanin, G.
Annals of Human Genetics 85 (5): 186-195. September 2021

Nuclei isolation from adult mouse kidney for single-nucleus RNA-sequencing.
Leiz, J. ORCID logoORCID: https://orcid.org/0000-0002-6531-7047, Hinze, C. ORCID logoORCID: https://orcid.org/0000-0003-2526-1621, Boltengagen, A. ORCID logoORCID: https://orcid.org/0000-0002-8356-9766, Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Kocks, C. ORCID logoORCID: https://orcid.org/0000-0003-1749-3334, Rajewsky, N. ORCID logoORCID: https://orcid.org/0000-0002-4785-4332 and Schmidt-Ott, K.M. ORCID logoORCID: https://orcid.org/0000-0002-7700-7142
Journal of Visualized Experiments (175): e62901. September 2021

ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF–containing protein that controls root growth angle in barley and wheat.
Kirschner, G.K., Rosignoli, S. ORCID logoORCID: https://orcid.org/0000-0002-4319-8761, Guo, L. ORCID logoORCID: https://orcid.org/0000-0003-0406-6966, Vardanega, I. ORCID logoORCID: https://orcid.org/0000-0002-3642-9381, Imani, J. ORCID logoORCID: https://orcid.org/0000-0001-8265-1656, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Milner, S.G., Balzano, R: ORCID logoORCID: https://orcid.org/0000-0001-7405-4456, Nagel, K.A. ORCID logoORCID: https://orcid.org/0000-0003-3025-0388, Pflugfelder, D. ORCID logoORCID: https://orcid.org/0000-0001-6187-2935, Forestan, C. ORCID logoORCID: https://orcid.org/0000-0002-1712-825X, Bovina, R. ORCID logoORCID: https://orcid.org/0000-0001-6170-4587, Koller, R. ORCID logoORCID: https://orcid.org/0000-0001-7251-7242, Stöcker, T.G. ORCID logoORCID: https://orcid.org/0000-0001-7184-9472, Mascher, M., Simmonds, J., Uauy, C. ORCID logoORCID: https://orcid.org/0000-0002-9814-1770, Schoof, H. ORCID logoORCID: https://orcid.org/0000-0002-1527-3752, Tuberosa, R. ORCID logoORCID: https://orcid.org/0000-0001-9143-9569, Salvi, S. ORCID logoORCID: https://orcid.org/0000-0002-0338-8894 and Hochholdinger, F. ORCID logoORCID: https://orcid.org/0000-0002-5155-0884
Proceedings of the National Academy of Sciences of the United States of America 118 (35): e2101526118. 31 August 2021

Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
Theobald, S.J., Simonis, A. ORCID logoORCID: https://orcid.org/0000-0003-2945-9897, Georgomanolis, T. ORCID logoORCID: https://orcid.org/0000-0002-4066-9257, Kreer, C. ORCID logoORCID: https://orcid.org/0000-0002-9140-9850, Zehner, M., Eisfeld, H.S., Albert, M.C., Chhen, J., Motameny, S. ORCID logoORCID: https://orcid.org/0000-0003-1186-1108, Erger, F., Fischer, J. ORCID logoORCID: https://orcid.org/0000-0001-6138-7454, Malin, J.J. ORCID logoORCID: https://orcid.org/0000-0002-2989-0436, Gräb, J., Winter, S., Pouikli, A., David, F. ORCID logoORCID: https://orcid.org/0000-0001-9521-5669, Böll, B., Koehler, P., Vanshylla, K., Gruell, H. ORCID logoORCID: https://orcid.org/0000-0002-0725-7138, Suárez, I., Hallek, M., Fätkenheuer, G., Jung, N., Cornely, O.A., Lehmann, C., Tessarz, P. ORCID logoORCID: https://orcid.org/0000-0002-6953-9835, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Kashkar, H., Klein, F., Koch, M. and Rybniker, J. ORCID logoORCID: https://orcid.org/0000-0001-8351-2690
EMBO Molecular Medicine 13 (8): e14150. 9 August 2021

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Volk, A.E., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, von Ameln, S., Lorenz, B., Neugebauer, A., Karsak, M. and Kubisch, C.
Human Genetics 140 (8): 1157-1168. August 2021

Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis.
Brych, A., Haas, F.B., Parzefall, K., Panzer, S., Schermuly, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Engelsdorf, T., Terpitz, U., Rensing, S.A., Kiontke, S. and Batschauer, A.
Fungal Genetics and Biology 152 : 103570. July 2021

Cystatin M/E variant causes autosomal dominant keratosis follicularis spinulosa decalvans by dysregulating cathepsins L and V.
Eckl, K.M. ORCID logoORCID: https://orcid.org/0000-0001-8838-3998, Gruber, R., Brennan, L., Marriott, A., Plank, R., Moosbrugger-Martinz, V., Blunder, S., Schossig, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Zschocke, J., Hennies, H.C. ORCID logoORCID: https://orcid.org/0000-0001-7210-2389 and Schmuth, M.
Frontiers in Genetics 12 : 689940. July 2021

Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility.
Koester, J. ORCID logoORCID: https://orcid.org/0000-0002-5274-0591, Miroshnikova, Y.A., Ghatak, S., Chacón-Martínez, C.A., Morgner, J. ORCID logoORCID: https://orcid.org/0000-0001-6374-8639, Li, X. ORCID logoORCID: https://orcid.org/0000-0002-7427-0017, Atanassov, I. ORCID logoORCID: https://orcid.org/0000-0001-8259-2545, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Birk, D.E., Koch, M. ORCID logoORCID: https://orcid.org/0000-0002-2962-7814, Bloch, W., Bartusel, M. ORCID logoORCID: https://orcid.org/0000-0003-1008-1951, Niessen, C.M., Rada-Iglesias, A. ORCID logoORCID: https://orcid.org/0000-0001-7137-1341 and Wickström, S.A. ORCID logoORCID: https://orcid.org/0000-0001-6383-6292
Nature Cell Biology 23 (7): 771-781. July 2021

Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study.
Augustin, M. ORCID logoORCID: https://orcid.org/0000-0002-2300-9337, Schommers, P., Stecher, M., Dewald, F., Gieselmann, L., Gruell, H., Horn, C., Vanshylla, K., Cristanziano, V.D., Osebold, L., Roventa, M., Riaz, T., Tschernoster, N., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Rose, L., Salomon, S., Priesner, V., Luers, J.C., Albus, C., Rosenkranz, S., Gathof, B., Fätkenheuer, G., Hallek, M., Klein, F., Suárez, I. and Lehmann, C. ORCID logoORCID: https://orcid.org/0000-0002-7042-1578
The Lancet Regional Health - Europe 6 : 100122. July 2021

Single cell transcriptome sequencing on the Nanopore platform with ScNapBar.
Wang, Q., Boenigk, S., Boehm, V., Gehring, N.H., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311
RNA 27 (7): 763-770. July 2021

SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
Boehm, V. ORCID logoORCID: https://orcid.org/0000-0001-7588-9842, Kueckelmann, S. ORCID logoORCID: https://orcid.org/0000-0001-8070-8823, Gerbracht, J.V., Kallabis, S., Britto-Borges, T. ORCID logoORCID: https://orcid.org/0000-0002-6218-4429, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Krüger, M. ORCID logoORCID: https://orcid.org/0000-0002-5846-6941, Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311 and Gehring, N.H. ORCID logoORCID: https://orcid.org/0000-0001-7792-1164
Nature Communications 12 (1): 3965. 25 June 2021

Swarm Learning for decentralized and confidential clinical machine learning.
Warnat-Herresthal, S., Schultze, H., Shastry, K.L., Manamohan, S., Mukherjee, S., Garg, V., Sarveswara, R., Händler, K., Pickkers, P., Aziz, N.A., Ktena, S., Tran, F., Bitzer, M., Ossowski, S., Casadei, N., Herr, C., Petersheim, D., Behrends, U., Kern, F., Fehlmann, T., Schommers, P., Lehmann, C., Augustin, M., Rybniker, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Mishra, N., Bernardes, J.P., Krämer, B., Bonaguro, L., Schulte-Schrepping, J., De Domenico, E., Siever, C., Kraut, M., Desai, M., Monnet, B., Saridaki, M., Siegel, C.M., Drews, A., Nuesch-Germano, M., Theis, H., Heyckendorf, J., Schreiber, S., Kim-Hellmuth, S., Nattermann, J., Skowasch, D., Kurth, I., Keller, A., Bals, R., Nürnberg, P., Rieß, O., Rosenstiel, P., Netea, M.G., Theis, F., Mukherjee, S., Backes, M., Aschenbrenner, A.C., Ulas, T., Breteler, M.M.B., Giamarellos-Bourboulis, E.J., Kox, M., Becker, M., Cheran, S., Woodacre, M.S., Goh, E.L. and Schultze, J.L.
Nature 594 (7862): 265-270. 10 June 2021

HMGB1 coordinates SASP-related chromatin folding and RNA homeostasis on the path to senescence.
Sofiadis, K., Josipovic, N., Nikolic, M. ORCID logoORCID: https://orcid.org/0000-0003-0029-7601, Kargapolova, Y. ORCID logoORCID: https://orcid.org/0000-0001-7541-5778, Übelmesser, N., Varamogianni-Mamatsi, V., Zirkel, A., Papadionysiou, I., Loughran, G., Keane, J. ORCID logoORCID: https://orcid.org/0000-0001-7640-8326, Michel, A., Gusmao, E.G., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Georgomanolis, T. ORCID logoORCID: https://orcid.org/0000-0002-4066-9257, Mizi, A. and Papantonis, A. ORCID logoORCID: https://orcid.org/0000-0001-7551-1073
Molecular Systems Biology 17 (6): e9760. 1 June 2021

The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing.
Goulielmaki, E., Tsekrekou, M. ORCID logoORCID: https://orcid.org/0000-0002-0635-1499, Batsiotos, N., Ascensão-Ferreira, M. ORCID logoORCID: https://orcid.org/0000-0002-5247-246X, Ledaki, E., Stratigi, K. ORCID logoORCID: https://orcid.org/0000-0001-7476-6410, Chatzinikolaou, G., Topalis, P. ORCID logoORCID: https://orcid.org/0000-0002-1635-4810, Kosteas, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Demmers, J.A. ORCID logoORCID: https://orcid.org/0000-0002-8757-9611, Barbosa-Morais, N.L. ORCID logoORCID: https://orcid.org/0000-0002-1215-0538 and Garinis, G.A. ORCID logoORCID: https://orcid.org/0000-0002-3200-5004
Nature Communications 12 (1): 3153. 26 May 2021

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Kargapolova, Y. ORCID logoORCID: https://orcid.org/0000-0001-7541-5778, Rehimi, R., Kayserili, H. ORCID logoORCID: https://orcid.org/0000-0003-0376-499X, Brühl, J., Sofiadis, K., Zirkel, A., Palikyras, S., Mizi, A., Li, Y., Yigit, G. ORCID logoORCID: https://orcid.org/0000-0003-2777-0198, Hoischen, A., Frank, S., Russ, N., Trautwein, J., van Bon, B., Gilissen, C. ORCID logoORCID: https://orcid.org/0000-0003-1693-9699, Laugsch, M., Gusmao, E.G., Josipovic, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Längst, G., Kaiser, F.J., Watrin, E. ORCID logoORCID: https://orcid.org/0000-0002-4582-6493, Brunner, H., Rada-Iglesias, A. ORCID logoORCID: https://orcid.org/0000-0001-7137-1341, Kurian, L., Wollnik, B. ORCID logoORCID: https://orcid.org/0000-0003-2589-0364, Bouazoune, K. ORCID logoORCID: https://orcid.org/0000-0002-5766-679X and Papantonis, A. ORCID logoORCID: https://orcid.org/0000-0001-7551-1073
Nature Communications 12 (1): 3014. 21 May 2021

Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler, H.S. ORCID logoORCID: https://orcid.org/0000-0001-8874-8125, Akpulat, U., Özdemir, Ö. ORCID logoORCID: https://orcid.org/0000-0002-2647-6416, Yis, U., Güngör, S., Talim, B., Diniz, G., Baydan, F., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (6): 1678-1690. 14 May 2021

Expanding the spectrum of FAT1 nephropathies by novel mutations that affect hippo signaling.
Fabretti, F., Tschernoster, N., Erger, F., Hedergott, A., Buescher, A.K., Dafinger, C., Reusch, B., Köntges, V.K., Kohl, S., Bartram, M.P., Weber, L.T., Thiele, H., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Schermer, B., Beck, B.B. and Habbig, S.
Kidney International Reports 6 (5): 1368-1378. May 2021

Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.
Elalaoui, S.C., Fejjal, N., Li, Y., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Guaoua, S., Nürnberg, P., Wollnik, B., Sefiani, A. and Ratbi, I.
Pan African Medical Journal 39 : 21. May 2021

Maternal angiotensin increases placental leptin in early gestation via an alternative renin-angiotensin system pathway: suggesting a link to preeclampsia.
Nonn, O. ORCID logoORCID: https://orcid.org/0000-0001-6385-2866, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Geisberger, S. ORCID logoORCID: https://orcid.org/0000-0001-6477-1312, El-Heliebi, A., Kroneis, T. ORCID logoORCID: https://orcid.org/0000-0002-4761-9340, Forstner, D., Desoye, G., Staff, A.C. ORCID logoORCID: https://orcid.org/0000-0001-9247-5721, Sugulle, M., Dechend, R. ORCID logoORCID: https://orcid.org/0000-0001-6636-3080, Pecks, U. ORCID logoORCID: https://orcid.org/0000-0002-0784-1262, Kollmann, M., Stern, C., Cartwright, J.E., Whitley, G.S., Thilaganathan, B. ORCID logoORCID: https://orcid.org/0000-0002-5531-4301, Wadsack, C., Huppertz, B. ORCID logoORCID: https://orcid.org/0000-0003-4814-2158, Herse, F. ORCID logoORCID: https://orcid.org/0000-0002-9305-8134 and Gauster, M. ORCID logoORCID: https://orcid.org/0000-0003-0386-6857
Hypertension 77 (5): 1723-1736. May 2021

Modifier genes in microcephaly: a report on WDR62, CEP63, RAD50 and PCNT variants exacerbating disease caused by biallelic mutations of ASPM and CENPJ.
Makhdoom, E.U.H., Waseem, S.S., Iqbal, M., Abdullah, U. ORCID logoORCID: https://orcid.org/0000-0002-7168-8266, Hussain, G., Asif, M., Budde, B. ORCID logoORCID: https://orcid.org/0000-0001-9385-4168, Höhne, W., Tinschert, S., Saadi, S.M. ORCID logoORCID: https://orcid.org/0000-0001-5962-2101, Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E. ORCID logoORCID: https://orcid.org/0000-0001-6984-8526, Khan, A. ORCID logoORCID: https://orcid.org/0000-0002-4743-7387, Jameel, M., Khan, S. ORCID logoORCID: https://orcid.org/0000-0003-3207-4074, Tariq, M. ORCID logoORCID: https://orcid.org/0000-0002-5334-403X, Anjum, I. ORCID logoORCID: https://orcid.org/0000-0002-9015-3179, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Höning, S., Baig, S.M., Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X and Hussain, M.S. ORCID logoORCID: https://orcid.org/0000-0002-1353-8809
Genes 12 (5): 731. May 2021

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Griesi-Oliveira, K., Fogo, M.S., Pinto, B.G.G., Alves, A.Y., Suzuki, A.M., Morales, A.G., Ezquina, S., Sosa, O.J., Sutton, G.J., Sunaga-Franze, D.Y. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Bueno, A.P., Seabra, G., Sardinha, L., Costa, S.S., Rosenberg, C., Zachi, E.C., Sertie, A.L., Martins-de-Souza, D., Reis, E.M., Voineagu, I. and Passos-Bueno, M.R.
Molecular Psychiatry 26 (5): 1589-1605. May 2021

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller, N., Paketci, C., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E.G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, Br. ORCID logoORCID: https://orcid.org/0000-0003-4051-5191 and Karakaya, M. ORCID logoORCID: https://orcid.org/0000-0001-5395-8894
Human Mutation 42 (4): 460-472. April 2021

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: a clinical longitudinal study.
Gangfuß, A. ORCID logoORCID: https://orcid.org/0000-0002-9975-0092, Yigit, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Czeschik, J.C., Wollnik, B., Bögershausen, N., Burfeind, P., Wieczorek, D., Kaiser, F., Roos, A., Kölbel, H., Schara-Schmidt, U. and Kuechler, A.
American Journal of Medical Genetics A 185 (4): 1216-1221. April 2021

A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak, A., Diegmann, S., Dreha-Kulaczewski, S., Wiśniewski, J., Duda, P. ORCID logoORCID: https://orcid.org/0000-0001-5207-4157, Ohlenbusch, A., Huppke, B., Henneke, M., Höhne, W., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Rakus, D., Gärtner, J. and Huppke, P.
Brain Communications 3 (2): fcab036. 11 March 2021

CALINCA - a novel pipeline for the identification of lncRNAs in podocyte disease.
Talyan, S., Filipów, S. ORCID logoORCID: https://orcid.org/0000-0002-9290-1273, Ignarski, M. ORCID logoORCID: https://orcid.org/0000-0001-6057-7694, Smieszek, M., Chen, H. ORCID logoORCID: https://orcid.org/0000-0002-7616-8438, Kühne, L., Butt, L., Göbel, H., Hoyer-Allo, K.J.R., Koehler, F.C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Brinkkötter, P., Schermer, B. ORCID logoORCID: https://orcid.org/0000-0002-5194-9000, Benzing, T., Kann, M., Müller, R.U. ORCID logoORCID: https://orcid.org/0000-0001-6910-0745 and Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311
Cells 10 (3): 692. March 2021

MTBP phosphorylation controls DNA replication origin firing.
Ferreira, P., Höfer, V., Kronshage, N., Marko, A., Reusswig, K.U., Tetik, B., Dießel, C., Köhler, K., Tschernoster, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Schulze, N., Pfander, B. and Boos, D. ORCID logoORCID: https://orcid.org/0000-0003-0018-4375
Scientific Reports 11 (1): 4242. 19 February 2021

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng, P.L., Majmundar, A.J., Khan, K., Lim, T.Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D.F., Aggarwal, V.S., Bier, L.E., Heinzen, E.L., Onuchic-Whitford, A.C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T.M., Klämbt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B.B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Benz, M.R., Yano, S., Mikati, M.A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A.S., Martinez-Agosto, J.A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A.V., Parboosingh, J.S., Innes, A.M., Bierzynska, A., Koziell, A.B., Muorah, M., Saleem, M.A., Hoefele, J., Riedhammer, K.M., Gharavi, A.G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E.G., O'Donnell-Luria, A., Rehm, H.L., Mane, S., D'Agati, V.D., Pollak, M.R., Ghiggeri, G.M., Lifton, R.P., Goldstein, D.B., Davis, E.E., Hildebrandt, F. and Sanna-Cherchi, S.
American Journal of Human Genetics 108 (2): 357-367. 4 February 2021

hiPSC-derived epidermal keratinocytes from ichthyosis patients show altered expression of cornification markers.
Lima Cunha, D., Oram, A., Gruber, R., Plank, R., Lingenhel, A., Gupta, M.K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Schmuth, M. ORCID logoORCID: https://orcid.org/0000-0002-4064-1334, Zschocke, J. ORCID logoORCID: https://orcid.org/0000-0002-0046-8274, Šarić, T. ORCID logoORCID: https://orcid.org/0000-0001-8344-1095, Eckl, K.M. ORCID logoORCID: https://orcid.org/0000-0001-8838-3998 and Hennies, H.C. ORCID logoORCID: https://orcid.org/0000-0001-7210-2389
International Journal of Molecular Sciences 22 (4): 1785. 2 February 2021

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder, S., Li, Y., Yigit, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Bader, I., Bevot, A., Biskup, S., Dreha-Kulaczewski, S., Korenke, C.G., Kottke, R., Mayr, J.A., Preisel, M., Toelle, S.P., Wente-Schulz, S., Wortmann, S.B., Hahn, H., Boltshauser, E., Uhmann, A., Wollnik, B. and Brockmann, K. ORCID logoORCID: https://orcid.org/0000-0001-6823-9091
Genetics in Medicine 23 (2): 341-351. February 2021

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients.
Aschenbrenner, A.C., Mouktaroudi, M., Krämer, B., Oestreich, M., Antonakos, N., Nuesch-Germano, M., Gkizeli, K., Bonaguro, L., Reusch, N., Baßler, K., Saridaki, M., Knoll, R., Pecht, T., Kapellos, T.S., Doulou, S., Kröger, C., Herbert, M., Holsten, L., Horne, A. ORCID logoORCID: https://orcid.org/0000-0002-4209-4573, Gemünd, I.D., Rovina, N., Agrawal, S., Dahm, K., van Uelft, M., Drews, A., Lenkeit, L., Bruse, N., Gerretsen, J., Gierlich, J., Becker, M., Händler, K., Kraut, M., Theis, H., Mengiste, S., Domenico, E., Schulte-Schrepping, J., Seep, L., Raabe, J., Hoffmeister, C., ToVinh, M., Keitel, V., Rieke, G., Talevi, V., Skowasch, D., Aziz, N.A., Pickkers, P., van de Veerdonk, F.L., Netea, M.G., Schultze, J.L., Kox, M., Breteler, M.M.B., Nattermann, J., Koutsoukou, A., Giamarellos-Bourboulis, E.J. and Ulas, T. ORCID logoORCID: https://orcid.org/0000-0002-9785-4197
Genome Medicine 13 (1): 7. 13 January 2021

Dissecting herpes simplex virus 1-induced host shutoff at the RNA level.
Friedel, C.C., Whisnant, A.W., Djakovic, L., Rutkowski, A.J., Friedl, M.S., Kluge, M., Williamson, J.C., Sai, S. ORCID logoORCID: https://orcid.org/0000-0001-6865-341X, Vidal, R.O. ORCID logoORCID: https://orcid.org/0000-0003-4217-2014, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Hennig, T., Grothey, A., Milić, A., Prusty, B.K., Lehner, P.J., Matheson, N.J., Erhard, F. and Dölken, L.
Journal of Virology 95 (3): e01399-20. 13 January 2021

Ion transporter NKCC1, modulator of neurogenesis in murine olfactory neurons.
Haering, C., Kanageswaran, N., Bouvain, P., Scholz, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Gisselmann, G., Wäring-Bischof, J. and Hatt, H.
Journal of Biological Chemistry 290 (15): 9767-9779. 4 January 2021

An autochthonous mouse model of Myd88- and BCL2-driven diffuse large B-cell lymphoma reveals actionable molecular vulnerabilities.
Flümann, R., Rehkämper, T., Nieper, P., Pfeiffer, P., Holzem, A., Klein, S., Bhatia, S., Kochanek, M., Kisis, I., Pelzer, B.W., Ahlert, H., Hauer, J., da Palma Guerreiro, A., Ryan, J.A., Reimann, M., Riabinska, A., Wiederstein, J., Krüger, M., Deckert, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Klatt, A.R., Frenzel, L.P., Pasqualucci, L., Béguelin, W., Melnick, A.M., Sander, S., Montesinos-Rongen, M., Brunn, A., Lohneis, P., Büttner, R., Kashkar, H., Borkhardt, A., Letai, A., Persigehl, T., Peifer, M., Schmitt, C.A. ORCID logoORCID: https://orcid.org/0000-0002-4731-2226, Reinhardt, H.C. and Knittel, G.
Blood Cancer Discovery 2 (1): 70-91. January 2021

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Bamborschke, D. ORCID logoORCID: https://orcid.org/0000-0002-9868-0184, Özdemir, Ö., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dötsch, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (1): 90-96. January 2021

2020

Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
Becker, T., Pich, A., Tamm, S., Hedtfeld, S., Ibrahim, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dalibor, N., Toliat, M.R. ORCID logoORCID: https://orcid.org/0000-0002-9248-3200, Janciauskiene, S., Tümmler, B. and Stanke, F.
Scientific Reports 10 (1): 22447. 31 December 2020

Noncanonical effector functions of the T-memory-like T-PLL cell are shaped by cooperative TCL1A and TCR signaling.
Oberbeck, S. ORCID logoORCID: https://orcid.org/0000-0002-0657-5281, Schrader, A., Warner, K., Jungherz, D., Crispatzu, G., von Jan, J., Chmielewski, M., Ianevski, A., Diebner, H.H. ORCID logoORCID: https://orcid.org/0000-0002-7138-6372, Mayer, P., Kondo Ados, A., Wahnschaffe, L., Braun, T., Müller, T.A., Wagle, P., Bouska, A., Neumann, T., Pützer, S., Varghese, L., Pflug, N., Thelen, M. ORCID logoORCID: https://orcid.org/0000-0002-2785-9726, Makalowski, J., Riet, N., Göx, H.J.M, Rappl, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kotrová, M., Persigehl, T., Hopfinger, G., Hansmann, M.L., Schlößer, H. ORCID logoORCID: https://orcid.org/0000-0002-1304-7719, Stilgenbauer, S., Dürig, J., Mougiakakos, D., von Bergwelt-Baildon, M., Roeder, I. ORCID logoORCID: https://orcid.org/0000-0002-6741-0608, Hartmann, S., Hallek, M., Moriggl, R. ORCID logoORCID: https://orcid.org/0000-0003-0918-9463, Brüggemann, M. ORCID logoORCID: https://orcid.org/0000-0001-5514-5010, Aittokallio, T. ORCID logoORCID: https://orcid.org/0000-0002-0886-9769, Iqbal, J., Newrzela, S., Abken, H. ORCID logoORCID: https://orcid.org/0000-0002-4302-3240 and Herling, M.
Blood 136 (24): 2786-2802. 10 December 2020

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder, S. ORCID logoORCID: https://orcid.org/0000-0002-6662-9384, Wieland, B., Ohlenbusch, A., Yigit, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Boltshauser, E., Dörk, T. ORCID logoORCID: https://orcid.org/0000-0002-9458-0282 and Brockmann, K.
American Journal of Medical Genetics A 182 (12): 2971-2975. December 2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R., Berger, H., Till, K., Salinas, G., Sturm, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Thiele, H., Funke, R., Apeshiotis, N., Langen, H., Wollnik, B., Borchers, A. ORCID logoORCID: https://orcid.org/0000-0002-2524-5384 and Pauli, S. ORCID logoORCID: https://orcid.org/0000-0002-9899-9590
Human Genetics 139 (11): 1363-1379. November 2020

Determination of primary microRNA processing in clinical samples by targeted pri-miR-sequencing.
Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Ntini, E., Lang, B., Cozzuto, L., Andersen, J.B., Marquardt, J.U., Ponomarenko, J., Tartaglia, G.G. and Vang Orom, U.A.
RNA 26 (11): 1726-1730. November 2020

Intestinal expression of toll-like receptor gene changes early after gastric bypass surgery and association with type 2 diabetes remission.
Sala, P., Torrinhas, R.S.M.M., Fonseca, D.C., Machado, N.M., Singer, J., Singer, P., Ravacci, G.R., Belarmino, G., Ferreira, B.A.M., Marques, M., Ishida, R.K., Guarda, I.F.M.S., de Moura, E.G.H., Sakai, P., Santo, M.A., Sunaga, D.Y. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Heymsfield, S.B., Bezerra, D.P.D.S., Corrêa-Giannella, M.L. and Waitzberg, D.L. ORCID logoORCID: https://orcid.org/0000-0002-9196-9372
Nutrition 79-80 : 110885. November 2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas, T.G., Li, D., Nair, D., Alaimo, J.T., Alders, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Barakat, T.S. ORCID logoORCID: https://orcid.org/0000-0003-1231-1562, Bebin, E.M., Bertsch, N.L., Blackburn, P.R. ORCID logoORCID: https://orcid.org/0000-0003-0658-1275, Blesson, A., Bouman, A.M., Brockmann, K., Brunelle, P., Burmeister, M. ORCID logoORCID: https://orcid.org/0000-0002-1914-2434, Cooper, G.M. ORCID logoORCID: https://orcid.org/0000-0001-5509-9923, Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A. ORCID logoORCID: https://orcid.org/0000-0002-4883-3023, Gal, D., Bartik, L.E., Gunderson, L.B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E.W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J.L., Milunsky, J.M., Napier, M.P., Ortiz-Gonzalez, X.R., Pichurin, P.N., Pinner, J., Powis, Z. ORCID logoORCID: https://orcid.org/0000-0002-1347-4358, Prasad, C., Radio, F.C. ORCID logoORCID: https://orcid.org/0000-0003-1993-8018, Rasmussen, K.J. ORCID logoORCID: https://orcid.org/0000-0002-0705-1228, Renaud, D.L., Rush, E.T., Saunders, C., Selcen, D., Seman, A.R., Shinde, D.N., Smith, E.D. ORCID logoORCID: https://orcid.org/0000-0002-5424-580X, Smol, T. ORCID logoORCID: https://orcid.org/0000-0002-0119-5896, Snijders Blok, L., Stoler, J.M., Tang, S., Tartaglia, M., Thompson, M.L., van de Kamp, J.M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H. ORCID logoORCID: https://orcid.org/0000-0001-7297-9228, Zackai, E.H., Zampino, G., Campeau, P. ORCID logoORCID: https://orcid.org/0000-0001-9713-7107 and Bhoj, E.
European Journal of Human Genetics 28 (10): 1422-1431. October 2020

Analysis of driver mutational hot spots in blood-derived cell-free DNA of patients with primary central nervous system lymphoma obtained before intracerebral biopsy.
Montesinos-Rongen, M. ORCID logoORCID: https://orcid.org/0000-0003-4724-5526, Brunn, A., Tuchscherer, A., Borchmann, P., Schorb, E., Kasenda, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Illerhaus, G., Ruge, M.I., Maarouf, M., Büttner, R., Hansmann, M.L., Hallek, M., Prinz, M., Siebert, R. and Deckert, M.
Journal of Molecular Diagnostics 22 (10): 1300-1307. October 2020

Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies.
Hackl, A., Erger, F., Skerka, C., Wenzel, A., Tschernoster, N., Ehren, R., Burgmaier, K., Riehmer, V., Licht, C., Kirschfink, M., Weber, L.T., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Zipfel, P.F. and Habbig, S.
Clinical Nephrology 94 (4): 197-206. October 2020

Viral cGAMP nuclease reveals the essential role of DNA sensing in protection against acute lethal virus infection.
Hernáez, B. ORCID logoORCID: https://orcid.org/0000-0002-4351-0102, Alonso, G. ORCID logoORCID: https://orcid.org/0000-0002-9803-9370, Georgana, I. ORCID logoORCID: https://orcid.org/0000-0002-8976-1177, El-Jesr, M., Martín, R., Shair, K.H.Y. ORCID logoORCID: https://orcid.org/0000-0002-9556-1745, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Maluquer de Motes, C. ORCID logoORCID: https://orcid.org/0000-0003-4712-4601 and Alcamí, A. ORCID logoORCID: https://orcid.org/0000-0002-3333-6016
Science Advances 6 (38): eabb4565. 18 September 2020

Intronic CRISPR repair in a preclinical model of Noonan syndrome-associated cardiomyopathy.
Hanses, U., Kleinsorge, M., Roos, L., Yigit, G., Li, Y., Barbarics, B., El-Battrawy, I., Lan, H., Tiburcy, M., Hindmarsh, R., Lenz, C., Salinas, G., Diecke, S. ORCID logoORCID: https://orcid.org/0000-0002-5219-5992, Müller, C., Adham, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Paul, T., Zimmermann, W.H., Hasenfuss, G., Wollnik, B. and Cyganek, L.
Circulation 142 (11): 1059-1076. 15 September 2020

Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity.
Koch, C., Kuske, A., Joosse, S.A. ORCID logoORCID: https://orcid.org/0000-0002-4296-5615, Yigit, G., Sflomos, G. ORCID logoORCID: https://orcid.org/0000-0003-2972-0549, Thaler, S., Smit, D.J. ORCID logoORCID: https://orcid.org/0000-0002-3190-9511, Werner, S., Borgmann, K., Gärtner, S., Mossahebi Mohammadi, P., Battista, L., Cayrefourcq, L., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Salinas-Riester, G., Raithatha, K., Zibat, A., Goy, Y., Ott, L., Bartkowiak, K., Tan, T.Z. ORCID logoORCID: https://orcid.org/0000-0001-6624-1593, Zhou, Q. ORCID logoORCID: https://orcid.org/0000-0001-7737-9643, Speicher, M.R. ORCID logoORCID: https://orcid.org/0000-0003-0105-955X, Müller, V., Gorges, T.M., Jücker, M., Thiery, J.P. ORCID logoORCID: https://orcid.org/0000-0003-0478-5020, Brisken, C., Riethdorf, S. ORCID logoORCID: https://orcid.org/0000-0003-0028-5643, Alix-Panabières, C. ORCID logoORCID: https://orcid.org/0000-0002-6401-2903 and Pantel, K. ORCID logoORCID: https://orcid.org/0000-0001-5736-2772
EMBO Molecular Medicine 12 (9): e11908. 7 September 2020

CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex.
Gerbracht, J.V., Boehm, V., Britto-Borges, T., Kallabis, S., Wiederstein, J.L., Ciriello, S., Aschemeier, D.U., Krüger, M., Frese, C.K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311 and Gehring, N.H. ORCID logoORCID: https://orcid.org/0000-0001-7792-1164
Nucleic Acids Research 48 (15): 8626-8644. 4 September 2020

Resolving fates and single-cell transcriptomes of hematopoietic stem cell clones by PolyloxExpress barcoding.
Pei, W., Shang, F., Wang, X., Fanti, A.K., Greco, A., Busch, K., Klapproth, K., Zhang, Q., Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Feyerabend, T.B., Höfer, T. and Rodewald, H.R.
Cell Stem Cell 27 (3): 383-395. 3 September 2020

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
Sauvigny, T., Alawi, M., Krause, L., Renner, S., Spohn, M., Busch, A., Kolbe, V., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Löscher, B.S., Franke, A., Brockmann, C., Lieb, W., Westphal, M., Schmidt, N.O., Regelsberger, J. and Rosenberger, G. ORCID logoORCID: https://orcid.org/0000-0003-3625-3109
Journal of Neurology 267 (9): 2533-2545. September 2020

Maximizing transcription of nucleic acids with efficient T7 promoters.
Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Plumbom, I. ORCID logoORCID: https://orcid.org/0009-0006-3720-3700, Alcobendas, M., Vidal, R. ORCID logoORCID: https://orcid.org/0000-0003-4217-2014 and Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693
Communications Biology 3 (1): 439. 14 August 2020

MCH neurons regulate permeability of the median eminence barrier.
Jiang, H., Gallet, S., Klemm, P., Scholl, P., Folz-Donahue, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Alber, J., Heilinger, C., Kukat, C., Loyens, A., Müller-Fielitz, H., Sundaram, S., Schwaninger, M., Prevot, V. and Brüning, J.C.
Neuron 107 (2): 306-319. 22 July 2020

Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome.
Wang, H., Humbatova, A., Liu, Y., Qin, W., Lee, M., Cesarato, N., Kortüm, F., Kumar, S., Romano, M.T., Dai, S., Mo, R., Sivalingam, S., Motameny, S., Wu, Y., Wang, X., Niu, X., Geng, S., Bornholdt, D., Kroisel, P.M., Tadini, G., Walter, S.D., Hauck, F., Girisha, K.M., Calza, A.M., Bottani, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Buness, A., Yang, S., Sun, X., Ma, L., Kutsche, K., Grzeschik, K.H., Betz, R.C. and Lin, Z.
American Journal of Human Genetics 107 (1): 34-45. 2 July 2020

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde, B.S., Aly, M.A., Mohamed, M.R., Breß, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Kawalia, A., Thiele, H., Konrad, K., Becker, C., Toliat, M.R., Nürnberg, G., Sayed, E.A.F., Mohamed, E.S., Pfister, M. and Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X
Clinical Genetics 98 (1): 32-42. July 2020

cfNOMe - a single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger, F. ORCID logoORCID: https://orcid.org/0000-0002-2768-1702, Nörling, D., Borchert, D., Leenen, E., Habbig, S., Wiesener, M.S., Bartram, M.P., Wenzel, A., Becker, C., Toliat, M.R., Nürnberg, P., Beck, B.B. and Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521
Genome Medicine 12 (1): 54. 24 June 2020

Benchmarking single-cell RNA-sequencing protocols for cell atlas projects.
Mereu, E., Lafzi, A., Moutinho, C., Ziegenhain, C. ORCID logoORCID: https://orcid.org/0000-0003-2208-4877, McCarthy, D.J., Álvarez-Varela, A., Batlle, E., Sagar, Grün, D. ORCID logoORCID: https://orcid.org/0000-0002-3364-5898, Lau, J.K., Boutet, S.C., Sanada, C., Ooi, A., Jones, R.C. ORCID logoORCID: https://orcid.org/0000-0001-7235-9854, Kaihara, K., Brampton, C., Talaga, Y., Sasagawa, Y., Tanaka, K., Hayashi, T., Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Trefzer, T. ORCID logoORCID: https://orcid.org/0000-0003-2031-7470, Conrad, C., Adiconis, X., Nguyen, L.T., Regev, A. ORCID logoORCID: https://orcid.org/0000-0003-3293-3158, Levin, J.Z. ORCID logoORCID: https://orcid.org/0000-0002-0170-3598, Parekh, S. ORCID logoORCID: https://orcid.org/0000-0002-4826-1651, Janjic, A. ORCID logoORCID: https://orcid.org/0000-0001-7180-5381, Wange, L.E. ORCID logoORCID: https://orcid.org/0000-0002-3275-9156, Bagnoli, J.W., Enard, W. ORCID logoORCID: https://orcid.org/0000-0002-4056-0550, Gut, M., Sandberg, R. ORCID logoORCID: https://orcid.org/0000-0001-6473-1740, Nikaido, I. ORCID logoORCID: https://orcid.org/0000-0002-7261-2570, Gut, I. ORCID logoORCID: https://orcid.org/0000-0001-7219-632X, Stegle, O. and Heyn, H. ORCID logoORCID: https://orcid.org/0000-0002-3276-1889
Nature Biotechnology 38 (6): 747-755. June 2020

Cell type-specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics.
Krämer, M., Plum, P.S. ORCID logoORCID: https://orcid.org/0000-0002-8165-4553, Velazquez Camacho, O., Folz-Donahue, K., Thelen, M. ORCID logoORCID: https://orcid.org/0000-0002-2785-9726, Garcia-Marquez, I., Wölwer, C., Büsker, S., Wittig, J., Franitza, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Löser, H. ORCID logoORCID: https://orcid.org/0000-0003-4555-1327, Schlößer, H., Büttner, R., Schröder, W., Bruns, C.J., Alakus, H., Quaas, A., Chon, S.H. ORCID logoORCID: https://orcid.org/0000-0002-8923-6428 and Hillmer, A.M. ORCID logoORCID: https://orcid.org/0000-0002-3381-7266
Molecular Oncology 14 (6): 1170-1184. June 2020

Association of germline variant status with therapy response in high-risk early-stage breast cancer: a secondary analysis of the GeparOcto randomized clinical trial.
Pohl-Rescigno, E., Hauke, J., Loibl, S., Möbus, V., Denkert, C., Fasching, P.A., Kayali, M., Ernst, C., Weber-Lassalle, N., Hanusch, C., Tesch, H., Müller, V., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Untch, M., Lübbe, K., Nürnberg, P., Rhiem, K., Furlanetto, J., Lederer, B., Jackisch, C., Nekljudova, V., Schmutzler, R.K., Schneeweiss, A. and Hahnen, E.
JAMA Oncology 6 (5): 744-748. May 2020

Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia.
Patil, P., Cieslak, A., Bernhart, S.H., Toprak, U.H., Wagener, R., López, C., Wiehle, L., Bens, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Franitza, M., Scholz, I., Jayne, S., Ahearne, M.J., Scheffold, A., Jebaraj, B.M.C., Schneider, C., Costa, D., Braun, T., Schrader, A., Campo, E., Dyer, M.J.S., Nürnberg, P., Dürig, J., Johansson, P., Böttcher, S., Schlesner, M., Herling, M., Stilgenbauer, S., Macintyre, E. and Siebert, R.
Genes Chromosomes & Cancer 59 (4): 261-267. April 2020

The integrated RNA landscape of renal preconditioning against ischemia-reperfusion injury.
Johnsen, M., Kubacki, T., Yeroslaviz, A. ORCID logoORCID: https://orcid.org/0000-0001-9638-4026, Späth, M.R., Mörsdorf, J., Göbel, H., Bohl, K., Ignarski, M., Meharg, C., Habermann, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Beyer, A., Benzing, T., Schermer, B., Burst, V. and Müller, R.U. ORCID logoORCID: https://orcid.org/0000-0001-6910-0745
Journal of the American Society of Nephrology 31 (4): 716-730. April 2020

The genomic and clinical landscape of fetal akinesia.
Pergande, M., Motameny, S., Özdemir, Ö., Kreutzer, M., Wang, H., Daimagüler, H.S., Becker, K., Karakaya, M., Ehrhardt, H., Elcioglu, N., Ostojic, S., Chao, C.M., Kawalia, A., Duman, Ö., Koy, A., Hahn, A., Reimann, J., Schoner, K., Schänzer, A., Westhoff, J.H., Schwaibold, E.M.C., Cossee, M., Imbert-Bouteille, M., von Pein, H., Haliloglu, G., Topaloglu, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Thiele, H., Heller, R. and Cirak, S. ORCID logoORCID: https://orcid.org/0000-0003-3040-6477
Genetics in Medicine 22 (3): 511-523. March 2020

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Yigit, G., Saida, K., DeMarzo, D., Miyake, N. ORCID logoORCID: https://orcid.org/0000-0003-0987-310X, Fujita, A., Yang Tan, T., White, S.M., Wadley, A., Toliat, M.R., Motameny, S., Franitza, M., Stutterd, C.A., Chong, P.F., Kira, R., Sengoku, T. ORCID logoORCID: https://orcid.org/0000-0001-9461-8714, Ogata, K., Guillen Sacoto, M.J., Fresen, C., Beck, B.B., Nürnberg, P., Dieterich, C., Wollnik, B. ORCID logoORCID: https://orcid.org/0000-0003-2589-0364, Matsumoto, N. and Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521
Human Mutation 41 (3): 591-599. March 2020

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Urzi, A., Vidal, R. ORCID logoORCID: https://orcid.org/0000-0003-4217-2014, Kunz, S. ORCID logoORCID: https://orcid.org/0000-0002-0131-3506, Ruffault, P.L. ORCID logoORCID: https://orcid.org/0000-0002-3378-3828, Kabuss, L., Hube, I., Gazzerro, E. ORCID logoORCID: https://orcid.org/0000-0003-2428-0302, Birchmeier, C. ORCID logoORCID: https://orcid.org/0000-0002-2041-8872, Spuler, S. ORCID logoORCID: https://orcid.org/0000-0002-0155-1117, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693 and Gouti, M. ORCID logoORCID: https://orcid.org/0000-0001-7422-1605
Cell Stem Cell 26 (2): 172-186. 6 February 2020

A novel mutation in PIGA associated with multiple congenital anomalies-hypotonia-seizure syndrome 2 (MCAHS2) in a boy with a combination of severe epilepsy and gingival hyperplasia.
Neuhofer, C.M., Funke, R., Wilken, B., Knaus, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Li, Y., Wollnik, B., Burfeind, P. and Pauli, S.
Molecular Syndromology 11 (1): 30-37. February 2020

Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage.
Goulielmaki, E., Ioannidou, A., Tsekrekou, M., Stratigi, K. ORCID logoORCID: https://orcid.org/0000-0001-7476-6410, Poutakidou, I.K., Gkirtzimanaki, K., Aivaliotis, M. ORCID logoORCID: https://orcid.org/0000-0003-1173-7705, Evangelou, K., Topalis, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Gorgoulis, V.G. ORCID logoORCID: https://orcid.org/0000-0001-9001-4112, Chatzinikolaou, G. and Garinis, G.A. ORCID logoORCID: https://orcid.org/0000-0002-3200-5004
Nature Communications 11 (1): 42. 2 January 2020

Effects of diets high in animal or plant protein on oxidative stress in individuals with type 2 diabetes: a randomized clinical trial.
Pivovarova-Ramich, O., Markova, M., Weber, D., Sucher, S., Hornemann, S., Rudovich, N., Raila, J., Sunaga-Franze, D. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Rohn, S., Pfeiffer, A.F.H. and Grune, T.
Redox Biology 29 (2): 101397. January 2020

Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling.
Hollenhorst, M.I., Jurastow, I., Nandigama, R., Appenzeller, S., Li, L., Vogel, J., Wiederhold, S., Althaus, M., Empting, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hirsch, A.K.H., Flockerzi, V., Canning, B.J., Saliba, A.E. and Krasteva-Christ, G.
FASEB Journal 34 (1): 316-332. January 2020

2019

A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant angiosperms.
Kivivirta, K., Herbert, D., Lange, M., Beuerlein, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Becker, A. ORCID logoORCID: https://orcid.org/0000-0002-3229-2162
Plant Methods 15 : 151. 16 December 2019

Transcriptional heterogeneity of fibroblasts is a hallmark of the aging heart.
Vidal, R. ORCID logoORCID: https://orcid.org/0000-0003-4217-2014, Wagner, J.U.G., Braeuning, C. ORCID logoORCID: https://orcid.org/0009-0007-1439-9920, Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Patrick, R., Tombor, L., Muhly-Reinholz, M., John, D., Kliem, M., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295, Guimarães-Camboa, N., Harvey, R., Dimmeler, S. and Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693
JCI Insight 4 (22): e131092. 14 November 2019

De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry.
Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N.T., Aprea, I., Dougherty, G.W., Pennekamp, P., Kaiser, T., Mitchison, H.M., Hogg, C., Carr, S.B., Zariwala, M.A., Ferkol, T., Leigh, M.W., Davis, S.D., Atkinson, J., Dutcher, S.K., Knowles, M.R., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D.J. and Omran, H.
American Journal of Human Genetics 105 (5): 1030-1039. 7 November 2019

Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj, L.M. ORCID logoORCID: https://orcid.org/0000-0002-6986-0549, May, P. ORCID logoORCID: https://orcid.org/0000-0001-8698-3770, Artomov, M. ORCID logoORCID: https://orcid.org/0000-0001-5282-8764, Kobow, K. ORCID logoORCID: https://orcid.org/0000-0002-0074-2480, Coras, R., Pérez-Palma, E., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Leu, C. ORCID logoORCID: https://orcid.org/0000-0003-0598-3301, Palotie, A., Daly, M.J. ORCID logoORCID: https://orcid.org/0000-0002-0949-8752, Klein, K.M., Beschorner, R. ORCID logoORCID: https://orcid.org/0000-0003-1109-915X, Weber, Y.G., Blümcke, I. and Lal, D.
European Journal of Human Genetics 27 (11): 1738-1744. November 2019

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian, R.T., Kraft, F. ORCID logoORCID: https://orcid.org/0000-0002-5324-9155, Leitão, E. ORCID logoORCID: https://orcid.org/0000-0001-5051-9714, Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A.F. ORCID logoORCID: https://orcid.org/0000-0002-8376-9098, Buratti, J. ORCID logoORCID: https://orcid.org/0000-0002-0901-0905, Kühnel, T., Schröder, C., Giesselmann, S., Tschernoster, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Lamiral, A. ORCID logoORCID: https://orcid.org/0000-0001-7524-6222, Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T. ORCID logoORCID: https://orcid.org/0000-0002-3394-2083, Plassard, D. ORCID logoORCID: https://orcid.org/0000-0001-8569-6163, Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G. ORCID logoORCID: https://orcid.org/0000-0002-2050-3911, Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I. ORCID logoORCID: https://orcid.org/0000-0002-5642-8378, Rafehi, H., Steenpass, L., Horsthemke, B. ORCID logoORCID: https://orcid.org/0000-0002-8598-8147, LeGuern, E., Klein, K.M. ORCID logoORCID: https://orcid.org/0000-0002-6654-1665, Labauge, P. ORCID logoORCID: https://orcid.org/0000-0001-7759-8555, Bennett, M.F. ORCID logoORCID: https://orcid.org/0000-0002-3561-6804, Bahlo, M. ORCID logoORCID: https://orcid.org/0000-0001-5132-0774, Gecz, J. ORCID logoORCID: https://orcid.org/0000-0002-7884-6861, Corbett, M.A. ORCID logoORCID: https://orcid.org/0000-0001-9298-3072, Tijssen, M.A.J ORCID logoORCID: https://orcid.org/0000-0001-5783-571X, van den Maagdenberg, A.M.J.M. and Depienne, C. ORCID logoORCID: https://orcid.org/0000-0002-7212-9554
Nature Communications 10 (1): 4919. 29 October 2019

Autosomal-recessive mutations in MESD cause osteogenesis imperfecta.
Moosa, S., Yamamoto, G.L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C.A., Valadares, E.R., de Sousa, S.B., Maia, S., Saraiva, J., Honjo, R.S., Kim, C.A., Cabral de Menezes, H., Lausch, E., Lorini, P.V., Lamounier, A., Carniero, T.C.B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Cavalcanti, D.P., Zabel, B., Warman, M.L., Bertola, D.R., Wollnik, B. and Netzer, C.
American Journal of Human Genetics 105 (4): 836-843. 3 October 2019

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising, M.N., Görg, B., Friedburg, C., Qvartskhava, N., Budde, B.S., Bonus, M., Toliat, M.R., Pfleger, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Herebian, D., Beyer, M., Zöllner, H.J., Wittsack, H.J., Schaper, J., Klee, D., Zechner, U., Nürnberg, P., Schipper, J., Schnitzler, A., Gohlke, H., Lorenz, B., Häussinger, D. and Bolz, H.J.
FASEB Journal 33 (10): 11507-11527. October 2019

Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J. ORCID logoORCID: https://orcid.org/0000-0001-8236-4075, Hahnen, E., Schneider, S., Reuss, A., Richters, L., Kommoss, S., Heimbach, A., Marmé, F., Schmidt, S., Prieske, K., Gevensleben, H., Burges, A., Borde, J., De Gregorio, N., Nürnberg, P., El-Balat, A., Thiele, H., Hilpert, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Meier, W., Dietrich, D., Kimmig, R., Schoemig-Markiefka, B., Kast, K., Braicu, E., Baumann, K., Jackisch, C., Park-Simon, T.W., Ernst, C., Hanker, L., Pfisterer, J., Schnelzer, A., du Bois, A., Schmutzler, R.K. and Harter, P.
Journal of Medical Genetics 56 (9): 574-580. September 2019

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute, N. ORCID logoORCID: https://orcid.org/0000-0002-3092-7451, Leu, C., Pogoda, H.M., Arno, G., Robson, A.G., Nürnberg, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Motameny, S., Toliat, M.R., Powell, K., Höhne, W., Michaelides, M., Webster, A.R., Moore, A.T., Hammerschmidt, M., Nürnberg, P., Yu-Wai-Man, P. and Votruba, M.
Annals of Neurology 86 (3): 368-383. September 2019

Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.
Alcala, N. ORCID logoORCID: https://orcid.org/0000-0002-5961-5064, Leblay, N., Gabriel, A.A.G., Mangiante, L., Hervas, D., Giffon, T. ORCID logoORCID: https://orcid.org/0000-0001-8133-6507, Sertier, A.S., Ferrari, A., Derks, J. ORCID logoORCID: https://orcid.org/0000-0002-0442-1879, Ghantous, A., Delhomme, T.M. ORCID logoORCID: https://orcid.org/0000-0003-0265-4246, Chabrier, A., Cuenin, C., Abedi-Ardekani, B., Boland, A., Olaso, R., Meyer, V., Altmuller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Le Calvez-Kelm, F., Durand, G., Voegele, C., Boyault, S. ORCID logoORCID: https://orcid.org/0000-0002-2297-6894, Moonen, L., Lemaitre, N., Lorimier, P., Toffart, A.C., Soltermann, A., Clement, J.H. ORCID logoORCID: https://orcid.org/0000-0002-6601-2456, Saenger, J., Field, J.K. ORCID logoORCID: https://orcid.org/0000-0003-3951-6365, Brevet, M. ORCID logoORCID: https://orcid.org/0000-0003-2275-691X, Blanc-Fournier, C., Galateau-Salle, F., Le Stang, N. ORCID logoORCID: https://orcid.org/0000-0001-9522-6552, Russell, P.A., Wright, G. ORCID logoORCID: https://orcid.org/0000-0002-7000-9305, Sozzi, G., Pastorino, U., Lacomme, S., Vignaud, J.M., Hofman, V., Hofman, P., Brustugun, O.T., Lund-Iversen, M. ORCID logoORCID: https://orcid.org/0000-0002-2025-4062, Thomas de Montpreville, V., Muscarella, L.A., Graziano, P. ORCID logoORCID: https://orcid.org/0000-0001-7066-7896, Popper, H. ORCID logoORCID: https://orcid.org/0000-0003-4970-1265, Stojsic, J. ORCID logoORCID: https://orcid.org/0000-0002-9290-0967, Deleuze, J.F., Herceg, Z., Viari, A., Nuernberg, P., Pelosi, G. ORCID logoORCID: https://orcid.org/0000-0003-4725-4692, Dingemans, A.M.C., Milione, M., Roz, L. ORCID logoORCID: https://orcid.org/0000-0001-5817-7149, Brcic, L. ORCID logoORCID: https://orcid.org/0000-0002-9098-8416, Volante, M., Papotti, M.G., Caux, C., Sandoval, J., Hernandez-Vargas, H. ORCID logoORCID: https://orcid.org/0000-0001-6045-2103, Brambilla, E., Speel, E.J.M., Girard, N., Lantuejoul, S., McKay, J.D., Foll, M. and Fernandez-Cuesta, L. ORCID logoORCID: https://orcid.org/0000-0002-0724-6703
Nature Communications 10 (1): 3407. 20 August 2019

Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases.
Murakami, Y., Nguyen, T.T.M., Baratang, N., Raju, P.K., Knaus, A., Ellard, S., Jones, G., Lace, B., Rousseau, J., Ajeawung, N.F., Kamei, A., Minase, G., Akasaka, M., Araya, N., Koshimizu, E., van den Ende, J., Erger, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Krumina, Z., Strautmanis, J., Inashkina, I., Stavusis, J., El-Gharbawy, A., Sebastian, J., Puri, R.D., Kulshrestha, S., Verma, I.C., Maier, E.M., Haack, T.B., Israni, A., Baptista, J., Gunning, A., Rosenfeld, J.A, Liu, P., Joosten, M., Rocha, M.E., Hashem, M.O., Aldhalaan, H.M., Alkuraya, F.S., Miyatake, S., Matsumoto, N., Krawitz, P.M., Rossignol, E., Kinoshita, T. and Campeau, P.M.
American Journal of Human Genetics 105 (2): 384-394. 1 August 2019

Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem.
Frerichs, A., Engelhorn, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Gutierrez-Marcos, J. and Werr, W. ORCID logoORCID: https://orcid.org/0000-0002-6627-1685
Journal of Experimental Botany 70 (15): 3867-3879. 1 August 2019

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya, M., Paketci, C., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Hoelker, I., Yis, U. and Wirth, B. ORCID logoORCID: https://orcid.org/0000-0003-4051-5191
American Journal of Medical Genetics Part A 179 (8): 1580-1584. August 2019

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V.C., Olfe, J., Roser, E., Seggewies, F.S., Mahlmann, A., Hempel, M., Hartmann, M.J., Hillebrand, M., Wieczorek, D., Volk, A.E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R.i, Mitter, D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., Kutsche, K. and Rosenberger, G. ORCID logoORCID: https://orcid.org/0000-0003-3625-3109
Genetics in Medicine 21 (8): 1832-1841. August 2019

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari, H.S., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Assmann, B., Koy, A. and Cirak, S.
Journal of Human Genetics 64 (8): 803-813. August 2019

R-spondin-3 induces secretory, antimicrobial Lgr5(+) cells in the stomach.
Sigal, M. ORCID logoORCID: https://orcid.org/0000-0003-4772-0761, Del Mar Reinés, M., Müllerke, S., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Kapalczynska, M., Berger, H. ORCID logoORCID: https://orcid.org/0000-0002-6304-4946, Bakker, E.R.M., Mollenkopf, H.J. ORCID logoORCID: https://orcid.org/0000-0003-1167-4783, Rothenberg, M.E., Wiedenmann, B., Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693 and Meyer, T.F. ORCID logoORCID: https://orcid.org/0000-0002-6120-8679
Nature Cell Biology 21 (7): 812-823. July 2019

Calcyphosine-like (CAPSL) is regulated in multiple symmetric lipomatosis and is involved in adipogenesis.
Lindner, A., Marbach, F. ORCID logoORCID: https://orcid.org/0000-0003-3953-6235, Tschernitz, S., Ortner, C., Berneburg, M., Felthaus, O., Prantl, L., Kye, M.J. ORCID logoORCID: https://orcid.org/0000-0002-1323-7256, Rappl, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Schreml, S. and Schreml, J.
Scientific Reports 9 (1): 8444. 11 June 2019

Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome.
Bauer, C.K., Schneeberger, P.E., Kortüm, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S.M., Campeau, P.M., Gripp, K.W. and Kutsche, K.
American Journal of Human Genetics 104 (6): 1139-1157. 6 June 2019

HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Kause, F. ORCID logoORCID: https://orcid.org/0000-0002-0074-8962, Zhang, R., Ludwig, M., Schmiedeke, E., Rissmann, A., Thiele, H., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Herms, S., Hilger, A.C., Hildebrandt, F. and Reutter, H. ORCID logoORCID: https://orcid.org/0000-0002-3591-5265
Birth Defects Research 111 (10): 591-597. 1 June 2019

Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy.
Heide, T., Maurer, A., Eipel, M., Knoll, K., Geelvink, M., Veeck, J., Knuechel, R., van Essen, J., Stoehr, R., Hartmann, A., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Graham, T.A. ORCID logoORCID: https://orcid.org/0000-0001-9582-1597 and Gaisa, N.T. ORCID logoORCID: https://orcid.org/0000-0002-4762-3964
Journal of Pathology 248 (2): 230-242. June 2019

Signals trigger state-specific transcriptional programs to support diversity and homeostasis in immune cells.
Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Metsger, M. ORCID logoORCID: https://orcid.org/0000-0001-9722-0533, Bauch, S., Vidal, R. ORCID logoORCID: https://orcid.org/0000-0003-4217-2014, Böttcher, M., Grote, P., Kliem, M. and Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693
Science Signaling 12 (581): eaao5820. 14 May 2019

Rare variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction.
Kolvenbach, C.M., Dworschak, G.C., Frese, S., Japp, A.S., Schuster, P., Wenzlitschke, N., Yilmaz, Ö., Lopes, F.M., Pryalukhin, A., Schierbaum, L., van der Zanden, L.F.M., Kause, F., Schneider, R., Taranta-Janusz, K., Szczepańska, M., Pawlaczyk, K., Newman, W.G., Beaman, G.M., Stuart, H.M., Cervellione, R.M., Feitz, W.F.J., van Rooij, I.A.L.M., Schreuder, M.F., Steffens, M., Weber, S., Merz, W.M., Feldkötter, M., Hoppe, B., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Berg, C., Kristiansen, G., Ludwig, M., Reutter, H., Woolf, A.S., Hildebrandt, F., Grote, P., Zaniew, M., Odermatt, B. and Hilger, A.C.
American Journal of Human Genetics 104 (5): 994-1006. 2 May 2019

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horváth, J., Niederacher, D., Arnold, N., Kaulfuß, S., Ernst, C., Paul, V.G., Honisch, E., Klaschik, K., Volk, A.E., Kubisch, C., Rapp, S. ORCID logoORCID: https://orcid.org/0000-0002-5141-0611, Lichey, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nürnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R.K., Hahnen, E. ORCID logoORCID: https://orcid.org/0000-0002-1152-8367 and Hauke, J.
Breast Cancer Research 21 (1): 55. 29 April 2019

Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine.
Herberg, M., Siebert, S., Quaas, M., Thalheim, T., Rother, K., Hussong, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kerner, C., Galle, J., Schweiger, M.R. and Aust, G. ORCID logoORCID: https://orcid.org/0000-0002-4670-4543
Clinical Epigenetics 11 (1): 65. 27 April 2019

Intestinal-cell kinase and juvenile myoclonic epilepsy.
Lerche, H., Berkovic, S.F. and Lowenstein, D.H.
New England Journal of Medicine 380 (16): e24. 18 April 2019

The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping.
Marbach, F., Rustad, C.F., Riess, A., Đukić, D., Hsieh, T.C., Jobani, I., Prescott, T., Bevot, A., Erger, F., Houge, G., Redfors, M., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Stokowy, T., Gilissen, C., Kubisch, C., Scarano, E., Mazzanti, L., Fiskerstrand, T., Krawitz, P.M., Lessel, D. and Netzer, C.
American Journal of Human Genetics 104 (4): 749-757. 4 April 2019

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
Pauli, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Schröder, S., Ohlenbusch, A., Dreha-Kulaczewski, S., Bergmann, C., Nürnberg, P., Thiele, H., Li, Y., Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 56 (4): 261-264. April 2019

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ.
Kalasova, I., Hanzlikova, H., Gupta, N., Li, Y., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Reynolds, J.J., Stewart, G.S., Wollnik, B., Yigit, G. and Caldecott, K.W.
Neurology Genetics 5 (2): e320. April 2019

m(6)A-mRNA methylation regulates cardiac gene expression and cellular growth.
Kmietczyk, V. ORCID logoORCID: https://orcid.org/0000-0002-4728-4077, Riechert, E. ORCID logoORCID: https://orcid.org/0000-0003-4876-7860, Kalinski, L., Boileau, E. ORCID logoORCID: https://orcid.org/0000-0001-9355-0973, Malovrh, E. ORCID logoORCID: https://orcid.org/0000-0003-0911-6125, Malone, B., Gorska, A., Hofmann, C. ORCID logoORCID: https://orcid.org/0000-0002-3389-6582, Varma, E., Jürgensen, L., Kamuf-Schenk, V., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Tappu, R., Busch, M. ORCID logoORCID: https://orcid.org/0000-0002-2717-7063, Most, P., Katus, H.A., Dieterich, C. and Völkers, M. ORCID logoORCID: https://orcid.org/0000-0003-2344-1856
Life Science Alliance 2 (2): e201800233. April 2019

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi, N., George, A., Ratbi, I., Schneider, R., Elalaoui, S.C., Moosa, S., Bharti, S., Sharma, R., Abu-Asab, M., Onojafe, F., Adadi, N., Lodder, E.M. ORCID logoORCID: https://orcid.org/0000-0001-6017-3796, Laarabi, F.Z., Lamsyah, Y., Elorch, H., Chebbar, I., Postma, A.V. ORCID logoORCID: https://orcid.org/0000-0003-4874-2487, Lougaris, V., Plebani, A., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kyrieleis, H., Meiner, V., McNeill, H., Bharti, K., Lyonnet, S., Wollnik, B., Henrion-Caude, A., Berraho, A., Hildebrandt, F. ORCID logoORCID: https://orcid.org/0000-0002-7130-0030, Bezzina, C.R., Brooks, B.P. and Sefiani, A.
Nature Communications 10 (1): 1180. 12 March 2019

Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing.
Grimm, C. ORCID logoORCID: https://orcid.org/0000-0002-4676-8870, Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, Anne M, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M. ORCID logoORCID: https://orcid.org/0000-0002-2549-3142, Buettner, R. and Schweiger, M.R.
Journal of Molecular Diagnostics 21 (2): 198-213. March 2019

Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish.
Dennenmoser, S. ORCID logoORCID: https://orcid.org/0000-0003-4624-0598, Sedlazeck, F.J. ORCID logoORCID: https://orcid.org/0000-0001-6040-2691, Schatz, M.C ORCID logoORCID: https://orcid.org/0000-0002-4118-4446, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Zytnicki, M. and Nolte, A.W. ORCID logoORCID: https://orcid.org/0000-0002-5272-8269
Molecular Ecology 28 (6): 1491-1505. March 2019

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Lima Cunha, D. ORCID logoORCID: https://orcid.org/0000-0002-6814-8365, Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K. ORCID logoORCID: https://orcid.org/0000-0001-8838-3998, Krabichler, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K. and Hennies, H.C. ORCID logoORCID: https://orcid.org/0000-0001-7210-2389
Molecular Genetics & Genomic Medicine 7 (3): e539. March 2019

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma.
Wagener, R., Seufert, J., Raimondi, F., Bens, S., Kleinheinz, K., Nagel, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Hübschmann, D. ORCID logoORCID: https://orcid.org/0000-0002-6041-7049, Kohler, C.W., Nürnberg, P., Au-Yeung, R. ORCID logoORCID: https://orcid.org/0000-0002-3137-0886, Burkhardt, B., Horn, H., Leoncini, L., Jaffe, E.S., Ott, G., Rymkiewicz, G., Schlesner, M. ORCID logoORCID: https://orcid.org/0000-0002-5896-4086, Russell, R.B. ORCID logoORCID: https://orcid.org/0000-0002-1905-4717, Klapper, W. and Siebert, R.
Blood 133 (9): 962-966. 28 February 2019

The Wnt-driven Mll1 epigenome regulates salivary gland and head and neck cancer.
Zhu, Q., Fang, L., Heuberger, J. ORCID logoORCID: https://orcid.org/0000-0001-7205-732X, Kranz, A., Schipper, J., Scheckenbach, K., Oliveira Vidal, R. ORCID logoORCID: https://orcid.org/0000-0003-4217-2014, Sunaga-Franze, D.Y. ORCID logoORCID: https://orcid.org/0000-0002-6851-9162, Müller, M., Wulf-Goldenberg, A., Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693 and Birchmeier, W. ORCID logoORCID: https://orcid.org/0000-0003-1173-0829
Cell Reports 26 (2): 415-428. 8 January 2019

2018

A virus-encoded type I interferon decoy receptor enables evasion of host immunity through cell-surface binding.
Hernáez, B., Alonso-Lobo, J.M., Montanuy, I., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Sigal, L., Sevilla, N. and Alcamí, A.
Nature Communications 9 (1): 5440. 21 December 2018

A mechanistic classification of clinical phenotypes in neuroblastoma.
Ackermann, S. ORCID logoORCID: https://orcid.org/0000-0002-5869-7344, Cartolano, M., Hero, B. ORCID logoORCID: https://orcid.org/0000-0003-4129-890X, Welte, A., Kahlert, Y., Roderwieser, A., Bartenhagen, C., Walter, E., Gecht, J., Kerschke, L. ORCID logoORCID: https://orcid.org/0000-0002-1195-7399, Volland, R., Menon, R. ORCID logoORCID: https://orcid.org/0000-0002-4891-0885, Heuckmann, J.M. ORCID logoORCID: https://orcid.org/0000-0003-1714-9509, Gartlgruber, M., Hartlieb, S., Henrich, K.O., Okonechnikov, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. ORCID logoORCID: https://orcid.org/0000-0002-7228-428X, Lefever, S., de Wilde, B. ORCID logoORCID: https://orcid.org/0000-0003-0213-1322, Sand, F., Ikram, F., Rosswog, C., Fischer, J., Theissen, J., Hertwig, F. ORCID logoORCID: https://orcid.org/0000-0003-4784-6516, Singhi, A.D., Simon, T., Vogel, W., Perner, S., Krug, B., Schmidt, M., Rahmann, S. ORCID logoORCID: https://orcid.org/0000-0002-8536-6065, Achter, V., Lang, U., Vokuhl, C., Ortmann, M., Büttner, R., Eggert, A. ORCID logoORCID: https://orcid.org/0000-0003-3476-8184, Speleman, F., O'Sullivan, R.J., Thomas, R.K., Berthold, F., Vandesompele, J., Schramm, A. ORCID logoORCID: https://orcid.org/0000-0001-7670-7529, Westermann, F. ORCID logoORCID: https://orcid.org/0000-0003-1584-3636, Schulte, J.H. ORCID logoORCID: https://orcid.org/0000-0003-0671-1201, Peifer, M. and Fischer, M.
Science 362 (6419): 1165-1170. 7 December 2018

Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations.
Irmak, D., Fatima, A., Gutiérrez-Garcia, R., Rinschen, M.M., Wagle, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Arrigoni, L., Hummel, B., Klein, C., Frese, C.K., Sawarkar, R., Rada-Iglesias, A. and Vilchez, D.
Human Molecular Genetics 27 (23): 4117-4134. 1 December 2018

Dominant SCN2A mutation causes familial episodic ataxia and impairment of speech development.
Fazeli, W., Becker, K., Herkenrath, P., Düchting, C., Körber, F., Landgraf, P., Nürnberg, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Koy, A., Liebau, M.C., Simon, T., Dötsch, J. and Cirak, S.
Neuropediatrics 49 (6): 379-384. December 2018

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci, S., Li, Y., Agolini, E., Bellacchio, E., Arboleda-Bustos, C.E., Carrero, D., Bertola, D., Al-Gazali, L., Alders, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Arboleda, G., Beleggia, F., Bruselles, A., Ciolfi, A., Gillessen-Kaesbach, G., Krieg, T., Mohammed, S., Müller, C., Novelli, A., Ortega, J., Sandoval, A., Velasco, G., Yigit, G., Arboleda, H., Lopez-Otin, C., Wollnik, B., Tartaglia, M. and Hennekam, R.C.
Journal of Medical Genetics 55 (12): 837-846. December 2018

IG-MYC(+) neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas.
Wagener, R., López, C., Kleinheinz, K., Bausinger, J., Aukema, S.M., Nagel, I., Toprak, U.H., Seufert, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Schneider, C., Kolarova, J., Park, J., Hübschmann, D., Murga Penas, E.M., Drexler, H.G., Attarbaschi, A., Hovland, R., Kjeldsen, E., Kneba, M., Kontny, U., de Leval, L., Nürnberg, P., Oschlies, I., Oscier, D., Schlegelberger, B., Stilgenbauer, S., Wössmann, W., Schlesner, M., Burkhardt, B., Klapper, W., Jaffe, E.S., Küppers, R. and Siebert, R.
Blood 132 (21): 2280-2285. 22 November 2018

Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex.
Romano, M.T., Tafazzoli, A., Mattern, M., Sivalingam, S., Wolf, S., Rupp, A., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Ellwanger, J., Gambon, R., Baumer, Al., Kohlschmidt, N., Metze, D., Holdenrieder, S., Paus, R., Lütjohann, D., Frank, J., Geyer, M., Bertolini, M., Kokordelis, P. and Betz, R.C.
American Journal of Human Genetics 103 (5): 777-785. 1 November 2018

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.
Harms, F.L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V.V., Alawi, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Yesodharan, D. and Kutsche, K. ORCID logoORCID: https://orcid.org/0000-0001-8494-8963
British Journal of Dermatology 179 (5): 1192-1194. 1 November 2018

Exon junction complexes suppress spurious splice sites to safeguard transcriptome integrity.
Boehm, V., Britto-Borges, T., Steckelberg, A.L., Singh, K.K., Gerbracht, J.V., Gueney, E., Blazquez, L., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311 and Gehring, N.H.
Molecular Cell 72 (3): 482-495. 1 November 2018

Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability.
Schlingmann, K.P., Bandulik, S., Mammen, C., Tarailo-Graovac, M., Holm, R., Baumann, M., König, J., Lee, J.J.Y., Drögemöller, B., Imminger, K., Beck, B.B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Waldegger, S., Van't Hoff, W., Kleta, R., Warth, R., van Karnebeek, C.D.M., Vilsen, B., Bockenhauer, D. and Konrad, M.
American Journal of Human Genetics 103 (5): 808-816. 1 November 2018

Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.
Mroß, C., Marko, M., Munck, M., Glöckner, G., Motameny, S. ORCID logoORCID: https://orcid.org/0000-0003-1186-1108, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Noegel, A.A., Eichinger, L., Peche, V.S. and Neumann, S.
Nucleus 9 (1): 503-515. 20 October 2018

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Noegel, A. A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroğlu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nürnberg, P., Khokha, M.K. and Hildebrandt, F.
Journal of Clinical Investigation 128 (10): 4313-4328. 1 October 2018

Senior-Løken syndrome with IQCB1 mutation in Taiwan.
Yu, P.H., Kuo, Y.R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Hwang, D.Y.
Kaohsiung Journal of Medical Sciences 34 (10): 588-589. October 2018

Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome.
Ghosh, S.G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K.K., Stanley, V., Manole, A., Akpulat, U., Weiss, M.M., Efthymiou, S., Hanna, M.G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T.D., Polat, A.I., Amiri, N., Doosti, M., Karimani, E.G., Toosi, M.B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J.M., Wolf, N.I., Maroofian, R., Houlden, H., Cirak, S. and Gleeson, J.G.
American Journal of Human Genetics 103 (3): 431-439. 6 September 2018

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.
Broekaert, I.J., Becker, K., Gottschalk, I., Körber, F., Dötsch, J., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Hünseler, C. and Cirak, S.
Journal of Medical Genetics 55 (9): 637-640. September 2018

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya, M. ORCID logoORCID: https://orcid.org/0000-0001-5395-8894, Storbeck, M., Strathmann, E.A., Delle Vedove, A., Hölker, I., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Naghiyeva, L., Schmitz-Steinkrüger, L., Vezyroglou, K., Motameny, S., Alawbathani, S., Thiele, H., Polat, A.I., Okur, D., Boostani, R., Karimiani, E.G., Wunderlich, G., Ardicli, D., Topaloglu, H., Kirschner, J., Schrank, B., Maroofian, R., Magnusson, O., Yis, U., Nürnberg, P., Heller, R. and Wirth, B. ORCID logoORCID: https://orcid.org/0000-0003-4051-5191
Human Mutation 39 (9): 1284-1298. September 2018

Rare gene deletions in genetic generalized and Rolandic epilepsies.
Jabbari, K., Bobbili, D.R., Lal, D., Reinthaler, E.M., Schubert, J., Wolking, S., Sinha, V., Motameny, S., Thiele, H., Kawalia, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Toliat, M.R., Kraaij, R., van Rooij, J., Uitterlinden, A.G., Ikram, M.A., Zara, F., Lehesjoki, A.E., Krause, R., Zimprich, F., Sander, T., Neubauer, B.A., May, P., Lerche, H. and Nürnberg, P.
PLoS ONE 13 (8): e0202022. 27 August 2018

Mutations in TOP3A cause a bloom syndrome-like disorder.
Martin, C.A., Sarlós, K., Logan, C.V., Thakur, R.S., Parry, D.A., Bizard, A.H., Leitch, A., Cleal, L., Ali, N.S., Al-Owain, M.A., Allen, W., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Aza-Carmona, M., Barakat, B.A.Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M.T., Cruz-Rojo, J., Dhahrabi, H.A.M., Elcioglu, N.H., Gorman, G.S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A.J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M.J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R.W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F.S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K.E., Hickson, I.D. and Jackson, A.P.
American Journal of Human Genetics 103 (2): 221-231. 2 August 2018

A de novo KCNA1 mutation in a patient with tetany and hypomagnesemia.
van der Wijst, J., Konrad, M., Verkaart, S.A.J., Tkaczyk, M., Latta, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Beck, B. ORCID logoORCID: https://orcid.org/0000-0003-0495-7670, Schlingmann, K.P. and de Baaij, J.H.F. ORCID logoORCID: https://orcid.org/0000-0003-2372-8486
Nephron 139 (4): 359-366. August 2018

Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study.
May, P., Girard, S., Harrer, M., Bobbili, D.R., Schubert, J., Wolking, S., Becker, F., Lachance-Touchette, P., Meloche, C., Gravel, M., Niturad, C.E., Knaus, J., De Kovel, C., Toliat, M., Polvi, A., Iacomino, M., Guerrero-López, R., Baulac, S., Marini, C., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Jabbari, K., Ruppert, A.K., Jurkowski, W., Lal, D., Rusconi, R., Cestèle, S., Terragni, B., Coombs, I.D., Reid, C.A., Striano, P., Caglayan, H., Siren, A., Everett, K., Møller, R.S., Hjalgrim, H., Muhle, H., Helbig, I., Kunz, W.S., Weber, Y.G., Weckhuysen, S., Jonghe, P.D., Sisodiya, S.M., Nabbout, R., Franceschetti, S., Coppola, A., Vari, M.S., Kasteleijn-Nolst Trenité, D., Baykan, B., Ozbek, U., Bebek, N., Klein, K.M., Rosenow, F., Nguyen, D.K., Dubeau, F., Carmant, L., Lortie, A., Desbiens, R., Clément, J.F., Cieuta-Walti, C., Sills, G.J., Auce, P., Francis, B., Johnson, M.R., Marson, A.G., Berghuis, B., Sander, J.W., Avbersek, A., McCormack, M., Cavalleri, G.L., Delanty, N., Depondt, C., Krenn, M., Zimprich, F., Peter, S., Nikanorova, M., Kraaij, R., van Rooij, J., Balling, R., Ikram, M.A., Uitterlinden, A.G., Avanzini, G., Schorge, S., Petrou, S., Mantegazza, M., Sander, T., LeGuern, E., Serratosa, J.M., Koeleman, B.P.C., Palotie, A., Lehesjoki, A.E., Nothnagel, M., Nürnberg, P., Maljevic, S., Zara, F., Cossette, P., Krause, R. and Lerche, H.
Lancet Neurology 17 (8): 699-708. August 2018

Transient N-6-methyladenosine transcriptome sequencing reveals a regulatory role of m6A in splicing efficiency.
Louloupi, A. ORCID logoORCID: https://orcid.org/0000-0003-3729-9002, Ntini, E., Conrad, T. ORCID logoORCID: https://orcid.org/0000-0001-5618-6295 and Ørom, U.A.V.
Cell Reports 23 (12): 3429-3437. 19 June 2018

Loss of the hematopoietic stem cell factor GATA2 in the osteogenic lineage impairs trabecularization and mechanical strength of bone.
Tolkachov, A., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Ambrosi, T.H., Bothe, M., Han, C.T., Muenzner, M., Mathia, S., Salminen, M., Seifert, G., Thiele, M., Duda, G.N., Meijsing, S.H., Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Schulz, T.J. and Schupp, M.
Molecular and Cellular Biology 38 (12): e00599-17. June 2018

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Gonçalves, I.C.G., Brecht, J., Thelen, M.P. ORCID logoORCID: https://orcid.org/0000-0003-1714-1179, Rehorst, W.A., Peters, M., Lee, H.J., Motameny, S. ORCID logoORCID: https://orcid.org/0000-0003-1186-1108, Torres-Benito, L., Ebrahimi-Fakhari, D. ORCID logoORCID: https://orcid.org/0000-0002-0026-4714, Kononenko, N.L., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Vilchez, D. ORCID logoORCID: https://orcid.org/0000-0002-0801-0743, Sahin, M. ORCID logoORCID: https://orcid.org/0000-0001-7044-2953, Wirth, B. and Kye, M.J. ORCID logoORCID: https://orcid.org/0000-0002-1323-7256
Scientific Reports 8 (1): 7907. 21 May 2018

HMGB2 loss upon senescence entry disrupts genomic organization and induces CTCF clustering across cell types.
Zirkel, A., Nikolic, M., Sofiadis, K., Mallm, J.P., Brackley, C.A., Gothe, H., Drechsel, O., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Josipovic, N., Georgomanolis, T., Brant, L., Franzen, J., Koker, M., Gusmao, E.G., Costa, I.G., Ullrich, R.T., Wagner, W., Roukos, V., Nürnberg, P., Marenduzzo, D., Rippe, K. and Papantonis, A.
Molecular Cell 70 (4): 730-744.e6. 17 May 2018

OR2H2 regulates the differentiation of human myoblast cells by its ligand aldehyde 13-13.
Kalbe, B., Osterloh, M., Schulz, V.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Osterloh, S. and Hatt, H.
Archives of Biochemistry and Biophysics 645 : 72-80. 1 May 2018

Targeted resequencing reveals genomic signatures of barley domestication.
Pankin, A. ORCID logoORCID: https://orcid.org/0000-0002-1149-9746, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C. and von Korff, M.
New Phytologist 218 (3): 1247-1259. May 2018

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Peeva, V., Blei, D., Trombly, G., Corsi, S., Szukszto, M.J., Rebelo-Guiomar, P., Gammage, P.A., Kudin, A.P., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Minczuk, M. ORCID logoORCID: https://orcid.org/0000-0001-8242-1420, Zsurka, G. ORCID logoORCID: https://orcid.org/0000-0002-6379-849X and Kunz, W.S. ORCID logoORCID: https://orcid.org/0000-0003-1113-3493
Nature Communications 9 (1): 1727. 30 April 2018

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Weitensteiner, V., Zhang, R., Bungenberg, J., Marks, M., Gehlen, J., Ralser, D.J., Hilger, A.C., Sharma, A., Schumacher, J., Gembruch, U., Merz, W.M., Becker, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Herrmann, B.G., Odermatt, B., Ludwig, M. and Reutter, H. ORCID logoORCID: https://orcid.org/0000-0002-3591-5265
Birth Defects Research 110 (7): 587-597. 17 April 2018

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Hauke, J. ORCID logoORCID: https://orcid.org/0000-0001-8236-4075, Horvath, J., Groß, E., Gehrig, A., Honisch, E., Hackmann, K., Schmidt, G., Arnold, N., Faust, U., Sutter, C., Hentschel, J., Wang-Gohrke, S., Smogavec, M., Weber, B.H.F., Weber-Lassalle, N., Weber-Lassalle, K., Borde, J., Ernst, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Volk, A.E., Thiele, H., Hübbel, V., Nürnberg, P., Keupp, K., Versmold, B., Pohl, E., Kubisch, C., Grill, S., Paul, V., Herold, N., Lichey, N., Rhiem, K., Ditsch, N., Ruckert, C., Wappenschmidt, B., Auber, B., Rump, A., Niederacher, D., Haaf, T., Ramser, J., Dworniczak, B., Engel, C., Meindl, A., Schmutzler, R.K. and Hahnen, E.
Cancer Medicine 7 (4): 1349-1358. April 2018

Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.
George, J., Walter, V., Peifer, M. ORCID logoORCID: https://orcid.org/0000-0002-5243-5503, Alexandrov, L.B. ORCID logoORCID: https://orcid.org/0000-0003-3596-4515, Seidel, D., Leenders, F., Maas, L., Müller, C., Dahmen, I., Delhomme, T.M., Ardin, M., Leblay, N., Byrnes, G., Sun, R. ORCID logoORCID: https://orcid.org/0000-0003-3702-9483, De Reynies, A., McLeer-Florin, A., Bosco, G., Malchers, F., Menon, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Nürnberg, P., Achter, V., Lang, U., Schneider, P.M. ORCID logoORCID: https://orcid.org/0000-0003-0744-2349, Bogus, M., Soloway, M.G., Wilkerson, M.D., Cun, Y. ORCID logoORCID: https://orcid.org/0000-0002-4241-8099, McKay, J.D., Moro-Sibilot, D., Brambilla, C.G., Lantuejoul, S., Lemaitre, N., Soltermann, A., Weder, W., Tischler, V., Brustugun, O.T., Lund-Iversen, M., Helland, Å., Solberg, S., Ansén, S., Wright, G. ORCID logoORCID: https://orcid.org/0000-0002-7000-9305, Solomon, B., Roz, L., Pastorino, U., Petersen, I., Clement, J.H., Sänger, J., Wolf, J., Vingron, M. ORCID logoORCID: https://orcid.org/0000-0002-1765-4241, Zander, T., Perner, S., Travis, W.D., Haas, S.A., Olivier, M., Foll, M., Büttner, R., Hayes, D.N., Brambilla, E., Fernandez-Cuesta, L. and Thomas, R.K.
Nature Communications 9 (1): 1048. 13 March 2018

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Wenzel, A., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ekici, A.B. ORCID logoORCID: https://orcid.org/0000-0001-6099-7066, Popp, B. ORCID logoORCID: https://orcid.org/0000-0002-3679-1081, Stueber, K., Thiele, H., Pannes, A., Staubach, S., Salido, E., Nuernberg, P., Reinhardt, R., Reis, A. ORCID logoORCID: https://orcid.org/0000-0002-6301-6363, Rump, P. ORCID logoORCID: https://orcid.org/0000-0003-4059-0247, Hanisch, F.G., Wolf, M.T.F., Wiesener, M., Huettel, B. and Beck, B.B.
Scientific Reports 8 (1): 4170. 8 March 2018

Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B., Gerard, M., Bramswig, N.C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., Low, K., Weber, A., Wenzel, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Li, Y., Wollnik, B., Hoganson, G., Plona, M.R., Cho, M.T., Thiel, C.T., Lüdecke, H.J., Strom, T.M., Calpena, E., Wilkie, A.O.M., Wieczorek, D., Engel, F.B. and Reis, A.
American Journal of Human Genetics 102 (3): 468-479. 1 March 2018

How to make a tumour: cell type specific dissection of Ustilago maydis-induced tumour development in maize leaves.
Matei, A., Ernst, C., Günl, M., Thiele, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Walbot, V., Usadel, B. and Doehlemann, G.
New Phytologist 217 (4): 1681-1695. March 2018

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.
Herling, C.D., Abedpour, N., Weiss, J., Schmitt, A., Jachimowicz, R.D., Merkel, O., Cartolano, M., Oberbeck, S., Mayer, P., Berg, V., Thomalla, D., Kutsch, N., Stiefelhagen, M., Cramer, P., Wendtner, C.M., Persigehl, T., Saleh, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Pallasch, C., Achter, V., Lang, U., Eichhorst, B., Castiglione, R., Schäfer, S.C., Büttner, R., Kreuzer, K.A., Reinhardt, H.C., Hallek, M., Frenzel, L.P. and Peifer, M. ORCID logoORCID: https://orcid.org/0000-0002-5243-5503
Nature Communications 9 (1): 727. 20 February 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader, A., Crispatzu, G., Oberbeck, S., Mayer, P., Pützer, S., von Jan, J., Vasyutina, E., Warner, K., Weit, N., Pflug, N., Braun, T., Andersson, E.I. ORCID logoORCID: https://orcid.org/0000-0002-3986-9892, Yadav, B., Riabinska, A., Maurer, B., Ventura Ferreira, M.S., Beier, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Lanasa, M., Herling, C.D., Haferlach, T., Stilgenbauer, S., Hopfinger, G., Peifer, M. ORCID logoORCID: https://orcid.org/0000-0002-5243-5503, Brümmendorf, T.H., Nürnberg, P., Elenitoba-Johnson, K.S.J., Zha, S., Hallek, M., Moriggl, R. ORCID logoORCID: https://orcid.org/0000-0003-0918-9463, Reinhardt, H.C., Stern, M.H. ORCID logoORCID: https://orcid.org/0000-0002-8100-2272, Mustjoki, S., Newrzela, S., Frommolt, P. and Herling, M.
Nature Communications 9 (1): 697. 15 February 2018

Olfactory receptors as biomarkers in human breast carcinoma tissues.
Weber, L., Maßberg, D., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ubrig, B., Bonatz, G., Wölk, G., Philippou, S., Tannapfel, A., Hatt, H. and Gisselmann, G.
Frontiers in Oncology 8 : 33. 15 February 2018

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili, D.R., Lal, D., May, P., Reinthaler, E.M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., Neubauer, B.A., Reinthaler, E.M., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, G.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Lal, D., Nürnberg, P., Sander, T., Thiele, H., Krause, R., May, P., Balling, R., Lerche, H. and Neubauer, B.A.
European Journal of Human Genetics 26 (2): 258-264. February 2018

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
Alawbathani, S., Kawalia, A., Karakaya, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. and Cirak, S.
Cold Spring Harbor Molecular Case Studies 4 (1): a002139. February 2018

The biotrophic development of Ustilago maydis studied by RNA-seq analysis.
Lanver, D., Müller, A.N., Happel, P., Schweizer, G., Haas, F.B., Franitza, M., Pellegrin, C., Reissmann, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Rensing, S.A. and Kahmann, R.
Plant Cell 30 (2): 300-323. February 2018

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Kause, F., Reutter, H., Marsch, F., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ludwig, M. and Zhang, R.
Molecular Medicine Reports 17 (2): 3200-3205. February 2018

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Weber-Lassalle, N., Hauke, J., Ramser, J., Richters, L., Groß, E., Blümcke, B., Gehrig, A., Kahlert, A.K., Müller, C.R., Hackmann, K., Honisch, E., Weber-Lassalle, K., Niederacher, D., Borde, J., Thiele, H., Ernst, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Neidhardt, G., Nürnberg, P., Klaschik, K., Schroeder, C., Platzer, K., Volk, A.E., Wang-Gohrke, S., Just, W., Auber, B., Kubisch, C., Schmidt, G., Horvath, J., Wappenschmidt, B., Engel, C., Arnold, N., Dworniczak, B., Rhiem, K., Meindl, A., Schmutzler, R.K. and Hahnen, E.
Breast Cancer Research 20 (1): 7. 24 January 2018

Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Ralser, D.J., Lestringant, G.G., Du-Thanh, A., Kokordelis, P., Fischer, J., Basmanav, F.B.Ü., Wolf, S., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Oji, V., Fritz, G., Frank, J. and Betz, R.C.
British Journal of Dermatology 177 (6): e340-e343. 8 January 2018

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Demenais, F., Margaritte-Jeannin, P., Barnes, K.C., Cookson, W.O.C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ang, W., Barr, R.G., Beaty, T.H., Becker, A.B., Beilby, J., Bisgaard, H., Bjornsdottir, U.S., Bleecker, E., Bonnelykke, K., Boomsma, D.I., Bouzigon, E., Brightling, C.E., Brossard, M., Brusselle, G.G., Burchard, E., Burkart, K.M., Bush, A., Chan-Yeung, M., Chung, K.F., Couto Alves, A., Curtin, J.A., Custovic, A., Daley, D., de Jongste, J.C., Del-Rio-Navarro, B.E., Donohue, K.M., Duijts, L., Eng, C., Eriksson, J.G., Farrall, M., Fedorova, Y., Feenstra, B., Ferreira, M.A., Freidin, M.B., Gajdos, Z., Gauderman, J., Gehring, U., Geller, F., Genuneit, J., Gharib, S.A, Gilliland, F., Granell, R., Graves, P.E., Gudbjartsson, D.F., Haahtela, T., Heckbert, S.R., Heederik, D., Heinrich, J., Helioevaara, M., Henderson, J., Himes, B.E., Hirose, H., Hirschhorn, J.N., Hofman, A., Holt, P., Hottenga, J., Hudson, T.J., Hui, J., Imboden, M., Ivanov, V., Jaddoe, V.W.V., James, A., Janson, C., Jarvelin, M.R., Jarvis, D., Jones, G., Jonsdottir, I., Jousilahti, P., Kabesch, M., Kähönen, M., Kantor, D.B., Karunas, A.S., Khusnutdinova, E., Koppelman, G.H., Kozyrskyj, A.L., Kreiner, E., Kubo, M., Kumar, R., Kumar, A., Kuokkanen, M., Lahousse, L., Laitinen, T., Laprise, C., Lathrop, M., Lau, S., Lee, Y.A. ORCID logoORCID: https://orcid.org/0000-0002-1817-9163, Lehtimaeki, T., Letort, S., Levin, A.M., Li, G., Liang, L., Loehr, L.R., London, S.J., Loth, D.W., Manichaikul, A., Marenholz, I. ORCID logoORCID: https://orcid.org/0009-0007-6933-3849, Martinez, F.J., Matheson, M.C., Mathias, R.A., Matsumoto, K., Mbarek, H., McArdle, W.L., Melbye, M., Melen, E., Meyers, D., Michel, S., Mohamdi, H., Musk, A.W., Myers, R.A., Nieuwenhuis, M.A.E., Noguchi, E., O'Connor, G.T., Ogorodova, L.M., Palmer, C.D., Palotie, A., Park, J.E., Pennell, C.E., Pershagen, G., Polonikov, A., Postma, D.S., Probst-Hensch, N., Puzyrev, V.P., Raby, B.A., Raitakari, O.T., Ramasamy, A., Rich, S.S., Robertson, C.F., Romieu, I., Salam, M.T., Salomaa, V., Schluenssen, V., Scott, R., Selivanova, P.A., Sigsgaard, T., Simpson, A., Siroux, V., Smith, L.J., Solodilova, M., Standl, M., Stefansson, K., Strachan, D.P., Stricker, B.H., Takahashi, A., Thompson, P.J., Thorleifsson, G., Thorsteinsdottir, U., Tiesler, C.M.T., Torgerson, D.G., Tsunoda, T., Uitterlinden, A.G., van der Valk, R.J.P., Vaysse, A., Vedantam, S., von Berg, A., von Mutius, E., Vonk, J.M., Waage, J., Wareham, N.J., Weiss, S.T., White, W.B., Wickman, M., Widén, E., Willemsen, G., Williams, L.K., Wouters, I.M., Yang, J.J., Zhao, J.H., Moffatt, M.F., Ober, C. and Nicolae, D.L.
Nature Genetics 50 (1): 42-53. January 2018

2017

A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
Awazawa, M., Gabel, P., Tsaousidou, E., Nolte, H., Krüger, M., Schmitz, J., Ackermann, P.J., Brandt, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Wunderlich, F.T., Kornfeld, J.W., Blüher, M. and Brüning, J.C.
Nature Medicine 23 (12): 1466-1473. 1 December 2017

Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra).
Goedbloed, D.J., Czypionka, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Rodriguez, A., Küpfer, E., Segev, O., Blaustein, L., Templeton, A.R., Nolte, A.W. and Steinfartz, S.
Heredity 119 (6): 429-437. December 2017

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
Horpaopan, S., Kirfel, J., Peters, S., Kloth, M., Hüneburg, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Drichel, D., Odenthal, M., Kristiansen, G., Strassburg, C., Nattermann, J., Hoffmann, P., Nürnberg, P., Büttner, R., Thiele, H., Kahl, P., Spier, I. and Aretz, S.
Hereditary Cancer in Clinical Practice 15 : 22. 29 November 2017

De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.
Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A.F., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V.M., Hennig, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Netzer, C., Thiele, H., Nürnberg, P., Yigit, G., Jäger, M., Hecht, J., Krüger, U., Mielke, T., Krawitz, P.M. ORCID logoORCID: https://orcid.org/0000-0002-3194-8625, Horn, D., Schuelke, M. ORCID logoORCID: https://orcid.org/0000-0003-2824-3891, Mundlos, S., Bacino, C.A., Bonnen, P.E., Wollnik, B., Fischer-Zirnsak, B. and Kornak, U.
American Journal of Human Genetics 101 (5): 833-843. 2 November 2017

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad, C.E., Lev, D., Kalscheuer, V.M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H.Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M., Rzonca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S.A., Nürnberg, P., van Gassen, K.L.I., Lerche, H., Zara, F., Maljevic, S. and Leshinsky-Silver, E.
Brain 140 (11): 2879-2894. 1 November 2017

Alterations in the α(2)δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., Moyanova, S., Ngomba, R.T., van Luijtelaar, G., Battaglia, G., Bruno, V., Striano, P. ORCID logoORCID: https://orcid.org/0000-0002-6065-1476 and Nicoletti, F.
Epilepsia 58 (11): 1993-2001. November 2017

The role of de novo mutations in the development of amyotrophic lateral sclerosis.
van Doormaal, P.T.C. ORCID logoORCID: https://orcid.org/0000-0001-8047-0288, Ticozzi, N., Weishaupt, J.H., Kenna, K., Diekstra, F.P., Verde, F., Andersen, P.M., Dekker, A.M, Tiloca, C., Marroquin, N., Overste, D.J., Pensato, V., Nürnberg, P., Pulit, S.L., Schellevis, R.D., Calini, D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Francioli, L.C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A.C., van den Berg, L.H., Kubisch, C., Landers, J.E., Veldink, J.H., Silani, V. and Volk, A.E.
Human Mutation 38 (11): 1534-1541. November 2017

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
Harter, P., Hauke, J., Heitz, F., Reuss, A., Kommoss, S., Marmé, F., Heimbach, A., Prieske, K., Richters, L., Burges, A., Neidhardt, G., de Gregorio, N., El-Balat, A., Hilpert, F., Meier, W., Kimmig, R., Kast, K., Sehouli, J., Baumann, K., Jackisch, C., Park-Simon, T.W., Hanker, L., Kröber, S., Pfisterer, J., Gevensleben, H., Schnelzer, A., Dietrich, D., Neunhöffer, T., Krockenberger, M., Brucker, S.Y., Nürnberg, P., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Lamla, J., Elser, G., du Bois, A., Hahnen, E. and Schmutzler, R.
PLoS ONE 12 (10): e0186043. 20 October 2017

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nürnberg, G., Thoenes, M., Becker, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Volk, A.E., Kubisch, C. and Heller, R.
Human Molecular Genetics 26 (20): 4055-4066. 15 October 2017

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.
Huppke, P., Weissbach, S., Church, J.A., Schnur, R., Krusen, M., Dreha-Kulaczewski, S., Kühn-Velten, W.N., Wolf, A., Huppke, B., Millan, F., Begtrup, A., Almusafri, F., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Müller, M. and Gärtner, J.
Nature Communications 8 (1): 818. 10 October 2017

Germline mutation status, pathological complete response, and disease-free survival in triple-negative breast cancer: secondary analysis of the GeparSixto randomized clinical trial.
Hahnen, E., Lederer, B., Hauke, J., Loibl, S., Kröber, S., Schneeweiss, A., Denkert, C., Fasching, P.A., Blohmer, J.U., Jackisch, C., Paepke, S., Gerber, B., Kümmel, S., Schem, C., Neidhardt, G., Huober, J., Rhiem, K., Costa, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hanusch, C., Thiele, H., Müller, V., Nürnberg, P., Karn, T., Nekljudova, V., Untch, M., von Minckwitz, G. and Schmutzler, R.K.
JAMA Oncology 3 (10): 1378-1385. 1 October 2017

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Weissbach, S., Reinert, M.C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Krätzner, R., Thiele, H., Rosenbaum, T., Nürnberg, P. and Gärtner, J.
American Journal of Medical Genetics Part A 173 (10): 2803-2807. October 2017

Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin.
Dennenmoser, S. ORCID logoORCID: https://orcid.org/0000-0003-4624-0598, Sedlazeck, F.J., Iwaszkiewicz, E., Li, X.Y., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Nolte, A.W.
Molecular Ecology 26 (18): 4712-4724. 26 September 2017

CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays.
Windpassinger, C., Piard, J., Bonnard, C., Alfadhel, M., Lim, S., Bisteau, X., Blouin, S., Ali, N.A.B., Ng, A.Y.J., Lu, H., Tohari, S., Talib, S.Z.A., van Hul, N., Caldez, M.J., Van Maldergem, L., Yigit, G., Kayserili, H., Youssef, S.A., Coppola, V., de Bruin, A., Tessarollo, L., Choi, H., Rupp, V., Roetzer, K., Roschger, P., Klaushofer, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Roy, S., Venkatesh, B., Ganger, R., Grill, F., Ben Chehida, F., Wollnik, B., Altunoglu, U., Al Kaissi, A., Reversade, B. and Kaldis, P.
American Journal of Human Genetics 101 (3): 391-403. 7 September 2017

Association between loss-of-function mutations within the FANCM gene and early-onset familial breast cancer.
Neidhardt, G., Hauke, J., Ramser, J., Groß, E., Gehrig, A., Müller, C.R., Kahlert, A.K., Hackmann, K., Honisch, E., Niederacher, D., Heilmann-Heimbach, S., Franke, A., Lieb, W., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Klaschik, K., Ernst, C., Ditsch, N., Jessen, F., Ramirez, A., Wappenschmidt, B., Engel, C., Rhiem, K., Meindl, A., Schmutzler, R.K. and Hahnen, Eric
JAMA Oncology 3 (9): 1245-1248. 1 September 2017

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).
Usluer, S., Kayserili, M.A., Eken, A.G., Yiş, U., Leu, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Sander, T. and Çağlayan, S.H.
European Journal of Paediatric Neurology 21 (5): 773-782. September 2017

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Moosa, S. ORCID logoORCID: https://orcid.org/0000-0002-4463-3067, Loeys, B., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Mortier, G., Nürnberg, P., Li, Y., Wollnik, B. and Vogel, I.
Clinical Genetics 92 (3): 342-343. September 2017

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Moosa, S. ORCID logoORCID: https://orcid.org/0000-0002-4463-3067, Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Lyngbye, T., Christensen, R., Li, Y., Nürnberg, P., Yigit, G., Vogel, I. ORCID logoORCID: https://orcid.org/0000-0002-1125-0393 and Wollnik, B.
Molecular Genetics & Genomic Medicine 5 (5): 580-584. September 2017

Chromatin immunoprecipitation (ChIP) protocol for low-abundance embryonic samples.
Rehimi, R., Bartusel, M., Solinas, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Rada-Iglesias, A.
Journal of Visualized Experiments (126): e56186. 29 August 2017

Polylox barcoding reveals haematopoietic stem cell fates realized in vivo.
Pei, W., Feyerabend, T.B., Rössler, J., Wang, X. ORCID logoORCID: https://orcid.org/0000-0002-7572-6354, Postrach, D., Busch, K., Rode, I., Klapproth, K., Dietlein, N., Quedenau, C. ORCID logoORCID: https://orcid.org/0000-0002-6846-4915, Chen, W. ORCID logoORCID: https://orcid.org/0000-0003-3263-1627, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Wolf, S., Höfer, T. and Rodewald, H.Re.
Nature 548 (7668): 456-460. 24 August 2017

Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease.
Siede, D., Rapti, K., Gorska, A.A., Katus, H.A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Boeckel, J.N., Meder, B., Maack, C., Völkers, M., Müller, O.J., Backs, J. ORCID logoORCID: https://orcid.org/0000-0002-2322-2699 and Dieterich, C. ORCID logoORCID: https://orcid.org/0000-0001-9468-6311
Journal of Molecular and Cellular Cardiology 109 : 48-56. August 2017

Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad, I., Baig, S.M., Abdulkareem, A.R., Hussain, M.S., Sur, I., Toliat, M.R., Nürnberg, G., Dalibor, N., Moawia, A., Waseem, S.S., Asif, M., Nagra, H., Sher, M., Khan, M.M.A., Hassan, I., Rehman, S.U., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Noegel, A.A. and Nürnberg, P.
Clinical Genetics 92 (1): 62-68. July 2017

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig, N.C. ORCID logoORCID: https://orcid.org/0000-0002-3367-586X, Lüdecke, H.J., Hamdan, F.F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P.A., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T. and Wieczorek, D.
Human Genetics 136 (7): 821-834. July 2017

Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin.
Paeger, L., Karakasilioti, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Brüning, J. and Kloppenburg, P. ORCID logoORCID: https://orcid.org/0000-0002-4554-404X
eLife 6 : e25770. 20 June 2017

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop, M., Kurzwelly, D., Wagner, H., Soehn, A.S., Reichbauer, J., Tao, F., Rattay, T.W., Peitz, M., Rehbach, K., Giorgetti, A., Pyle, A., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Timmann, D., Karaca, I., Lennarz, M., Baets, J., Hengel, H., Synofzik, M., Atasu, B., Feely, S., Kennerson, M., Stendel, C., Lindig, T., Gonzalez, M.A., Stirnberg, R., Sturm, M., Roeske, S., Jung, J., Bauer, P., Lohmann, E., Herms, S., Heilmann-Heimbach, S., Nicholson, G., Mahanjah, M., Sharkia, R., Carloni, P., Brüstle, O., Klopstock, T., Mathews, K.D., Shy, M.E., de Jonghe, P., Chinnery, P.F., Horvath, R., Kohlhase, J., Schmitt, I., Wolf, M., Greschus, S., Amunts, K., Maier, W., Schöls, L., Nürnberg, P., Zuchner, S., Klockgether, T., Ramirez, A. and Schüle, R.
Brain 140 (6): 1561-1578. June 2017

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.
Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Haenisch, B., Kawalia, A., Menzen, M., Nöthen, M.M., Fier, H. and Molderings, G.J.
Immunogenetics 69 (6): 359-369. June 2017

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Khan, A.O., Becirovic, E., Betz, C., Neuhaus, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Maria Riedmayr, L., Motameny, S., Nürnberg, G., Nürnberg, P. and Bolz, H.J.
Scientific Reports 7 (1): 1411. 3 May 2017

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Ralser, D.J., Basmanav, F.B.Ü., Tafazzoli, A., Wititsuwannakul, J., Delker, S., Danda, S., Thiele, H., Wolf, S., Busch, M., Pulimood, S.A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Lacombe, D., Hillen, U., Wenzel, J., Frank, J., Odermatt, B. and Betz, R.C.
Journal of Clinical Investigation 127 (4): 1485-1490. 3 April 2017

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Sukumaran, S.K., Stumpf, M., Salamon, S., Ahmad, I., Bhattacharya, K., Fischer, S., Müller, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Budde, B., Thiele, H., Tariq, M., Malik, N.A., Nürnberg, P., Baig, S.M., Hussain, M.S. and Noegel, A.A.
Molecular Genetics and Genomics 292 (2): 365-383. April 2017

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Moosa, S., Haagerup, A., Gregersen, P.A., Petersen, K.K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Cho, T.J., Kim, O.H., Nishimura, G., Wollnik, B. and Vogel, I.
American Journal of Medical Genetics Part A 173 (4): 1102-1108. April 2017

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds, J.J., Bicknell, L.S., Carroll, P., Higgs, M.R., Shaheen, R., Murray, J.E., Papadopoulos, D.K., Leitch, A., Murina, O., Tarnauskaitė, Ž., Wessel, S.R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R.M.A., Logan, C.V., Bye, H., Li, Y., Brean, A., Maddirevula, S., Challis, R.C., Skouloudaki, K., Almoisheer, A., Alsaif, H.S., Amar, A., Prescott, N.J., Bober, M.B., Duker, A., Faqeih, E., Seidahmed, M.Z., Al Tala, S., Alswaid, A., Ahmed, S., Al-Aama, J.Y., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Al Balwi, M., Brady, A.F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B.D., Hobson, E., Nürnberg, P., Percin, E.F., Peron, A., Spaccini, L., Quigley, A.J., Thakur, S., Wise, C.A., Yoon, G., Alnemer, M., Tomancak, P., Yigit, G., Taylor, A.M.R., Reijns, M.A.M., Simpson, M.A., Cortez, D., Alkuraya, F.S., Mathew, C.G., Jackson, A.P. and Stewart, G.S.
Nature Genetics 49 (4): 537-549. April 2017

Activation of odorant receptor in colorectal cancer cells leads to inhibition of cell proliferation and apoptosis.
Weber, L., Al-Refae, K., Ebbert, J., Jägers, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Hahn, S., Gisselmann, G. and Hatt, H.
PLoS ONE 12 (3): e0172491. 8 March 2017

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Neidhardt, G., Becker, A., Hauke, J., Horváth, J., Bogdanova Markov, N., Heilmann-Heimbach, S., Hellebrand, H., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Meindl, A., Rhiem, K., Blümcke, B., Wappenschmidt, B., Schmutzler, R.K. and Hahnen, E.
European Journal of Cancer Prevention 26 (2): 165-169. March 2017

RNA-seq based transcriptome analysis of the type I interferon host response upon vaccinia virus infection of mouse cells.
Hernáez, B. ORCID logoORCID: https://orcid.org/0000-0002-4351-0102, Alonso, G., Alonso-Lobo, J.M., Rastrojo, A., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435, Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693, Aguado, B. ORCID logoORCID: https://orcid.org/0000-0003-4043-6944 and Alcamí, A.
Journal of Immunology Research 2017 : 5157626. 9 February 2017

The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae).
Grau, J.H., Hilgers, L., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Šlechtová, V. and Bohlen, J.
Mitochondrial DNA Part B Resources 2 (1): 46-47. 2 February 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon, C.T., Xue, S., Yigit, G., Filali, H., Chen, K., Rosin, N., Yoshiura, K.I., Oufadem, M., Beck, T.J., McGowan, R., Magee, A.C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dion, C., Thiele, H., Gurzau, A.D., Nürnberg, P., Meschede, D., Mühlbauer, W., Okamoto, N., Varghese, V., Irving, R., Sigaudy, S., Williams, D., Ahmed, S.F., Bonnard, C., Kong, M.K., Ratbi, I., Fejjal, N., Fikri, M., Elalaoui, S.C., Reigstad, H., Bole-Feysot, C., Nitschké, P., Ragge, N., Lévy, N., Tunçbilek, G., Teo, A.S.M., Cunningham, M.L., Sefiani, A., Kayserili, H., Murphy, J.M., Chatdokmaiprai, Ch., Hillmer, A.M., Wattanasirichaigoon, D., Lyonnet, S., Magdinier, F., Javed, A., Blewitt, M.E., Amiel, J., Wollnik, B. and Reversade, B.
Nature Genetics 49 (2): 249-255. February 2017

Smith-Kingsmore syndrome: a third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Moosa, S., Böhrer-Rabel, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Beleggia, F., Nürnberg, P., Li, Y., Yigit, G. and Wollnik, B.
American Journal of Medical Genetics Part A 173 (1): 264-267. January 2017

Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation.
Tsai, T., Veitinger, S., Peek, I., Busse, D., Eckardt, J., Vladimirova, D., Jovancevic, N., Wojcik, S., Gisselmann, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ständer, S., Luger, T., Paus, R., Cheret, J. and Hatt, H.
Experimental Dermatology 26 (1): 58-65. January 2017

2016

Expression and functionality of TRPV1 in breast cancer cells.
Weber, L.V., Al-Refae, K., Wölk, G., Bonatz, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Gisselmann, G. and Hatt, H.
Breast Cancer: Targets and Therapy 8 : 243-252. 13 December 2016

Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome.
Ü Basmanav, F.B., Cau, L., Tafazzoli, A., Méchin, M.C., Wolf, S., Romano, M.T., Valentin, F., Wiegmann, H., Huchenq, A., Kandil, R., Garcia Bartels, N., Kilic, A., George, S., Ralser, D.J., Bergner, S., Ferguson, D.J.P., Oprisoreanu, A.M., Wehner, M., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Swan, D., Houniet, D., Büchner, A., Weibel, L., Wagner, N., Grimalt, R., Bygum, A., Serre, G., Blume-Peytavi, U., Sprecher, E., Schoch, S., Oji, V., Hamm, H., Farrant, P., Simon, M. and Betz, R.C.
American Journal of Human Genetics 99 (6): 1292-1304. 1 December 2016

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.
Bögershausen, N., Altunoglu, U., Beleggia, F., Yigit, G., Kayserili, H., Nürnberg, P., Li, Y., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Wollnik, B.
American Journal of Medical Genetics Part A 170 (12): 3282-3288. December 2016

Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma.
Nieuwenhuis, M.A., Siedlinski, M., van den Berge, M., Granell, R., Li, X., Niens, M., van der Vlies, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Kerkhof, M., van Schayck, O.C., Riemersma, R.A., van der Molen, T., de Monchy, J.G., Bossé, Y., Sandford, A., Bruijnzeel-Koomen, C.A., Gerth van Wijk, R., Ten Hacken, N.H., Timens, W., Boezen, H.M., Henderson, J., Kabesch, M., Vonk, J.M., Postma, D.S. and Koppelman, G.H.
Allergy 71 (12): 1712-1720. December 2016

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Reiff, C., Owczarek-Lipska, M., Spital, G., Röger, C., Hinz, H., Jüschke, C., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Da Costa, R. and Neidhardt, J.
Scientific Reports 6 : 36208. 4 November 2016

Efficient application of de novo RNA assemblers for proteomics informed by transcriptomics.
Luge, T., Fischer, C. ORCID logoORCID: https://orcid.org/0000-0003-0329-2435 and Sauer, S. ORCID logoORCID: https://orcid.org/0000-0002-4794-3693
Journal of Proteome Research 15 (10): 3938-3943. 7 October 2016

Heterogeneous mechanisms of primary and acquired resistance to third-generation EGFR inhibitors.
Ortiz-Cuaran, S., Scheffler, M., Plenker, D., Dahmen, L., Scheel, A.H., Fernandez-Cuesta, L., Meder, L., Lovly, C.M., Persigehl, T., Merkelbach-Bruse, S., Bos, M., Michels, S., Fischer, R., Albus, K., König, K., Schildhaus, H.U., Fassunke, Jana, Ihle, M.A., Pasternack, H., Heydt, C., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ji, H., Müller, C., Florin, A., Heuckmann, J.M., Nuernberg, P., Ansén, S., Heukamp, L.C., Berg, J., Pao, W., Peifer, M., Buettner, R., Wolf, J., Thomas, R.K. and Sos, M.L.
Clinical Cancer Research 22 (19): 4837-4847. 2 October 2016

Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome.
Di Donato, N., Kuechler, A., Vergano, S., Heinritz, W., Bodurtha, J., Merchant, S.R., Breningstall, G., Ladda, R., Sell, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Bögershausen, N., Timms, A.E., Hackmann, K., Schrock, E., Collins, S., Olds, C., Rump, A. and Dobyns, W.B.
American Journal of Medical Genetics Part A 170 (10): 2644-2651. October 2016

Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus.
Harr, B., Karakoc, E., Neme, R., Teschke, M., Pfeifle, C., Pezer, Ž., Babiker, H., Linnenbrink, M., Montero, I., Scavetta, R., Abai, M.R., Molins, M.P., Schlegel, M., Ulrich, R.G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Franitza, M., Büntge, A., Künzel, S. and Tautz, D.
Scientific Data 3 : 160075. 13 September 2016

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Moosa, S., Fano, V., Obregon, M.G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Nishimura, G. and Wollnik, B.
American Journal of Medical Genetics Part A 170 (9): 2436-2439. September 2016

Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18.
Flegel, C., Vogel, F., Hofreuter, A., Wojcik, S., Schoeder, C., Kieć-Kononowicz, K., Brockmeyer, N.H., Müller, C.E., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hatt, H. and Gisselmann, G.
Scientific Reports 6 : 32255. 30 August 2016

Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis.
Adam, R., Spier, I., Zhao, B., Kloth, M., Marquez, J., Hinrichsen, I., Kirfel, J., Tafazzoli, A., Horpaopan, S., Uhlhaas, S., Stienen, D., Friedrichs, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Laner, A., Holzapfel, S., Peters, S., Kayser, K., Thiele, H., Holinski-Feder, E., Marra, G., Kristiansen, G., Nöthen, M.M., Büttner, R., Möslein, G., Betz, R.C., Brieger, A., Lifton, R.P. and Aretz, S.
American Journal of Human Genetics 99 (2): 337-51. 4 August 2016

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.
Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Becker, C., Thiele, H., Chatterjee, S., Wollnik, B. and Nürnberg, P.
Biological Chemistry 397 (8): 791-801. 1 August 2016

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy.
Volmering, E., Niehusmann, P., Peeva, V., Grote, A., Zsurka, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Becker, A.J., Schoch, S., Elger, C.E. and Kunz, W.S.
Acta Neuropathologica 132 (2): 277-288. August 2016

The activation of OR51E1 causes growth suppression of human prostate cancer cells.
Maßberg, D., Jovancevic, N., Offermann, A., Simon, A., Baniahmad, A., Perner, S., Pungsrinont, T., Luko, K., Philippou, S., Ubrig, B., Heiland, M., Weber, L., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Gisselmann, G., Gelis, L. and Hatt, H.
Oncotarget 7 (30): 48231-48249. 26 July 2016

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.
Herling, C.D., Klaumünzer, M., Rocha, C.K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Bahlo, J., Kluth, S., Crispatzu, G., Herling, M., Schiller, J., Engelke, A., Tausch, E., Döhner, H., Fischer, K., Goede, V., Nürnberg, P., Reinhardt, H.C., Stilgenbauer, S., Hallek, M. and Kreuzer, K.A.
Blood 128 (3): 395-404. 21 July 2016

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit.
Hatzold, J., Beleggia, F., Herzig, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Bloch, W., Wollnik, B. and Hammerschmidt, M.
eLife 5 : e14277. 15 July 2016

A large deletion in RPGR causes XLPRA in Weimaraner dogs.
Kropatsch, R., Akkad, D.A., Frank, M., Rosenhagen, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Epplen, J.T. and Dekomien, G.
Canine Genetics and Epidemiology 3 : 7. 8 July 2016

Identification of novel and recurrent disease-causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations.
Tiwari, A., Lemke, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Glaus, E., Fleischhauer, J., Nürnberg, P., Neidhardt, J. and Berger, W.
PLoS ONE 11 (7): e0158692. 8 July 2016

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato, N., Neuhann, T., Kahlert, A.K., Klink, B., Hackmann, K., Neuhann, I., Novotna, B., Schallner, J., Krause, C., Glass, I.A., Parnell, S.E., Benet-Pages, A., Nissen, A.M., Berger, W., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Weber, B.H.F., Schrock, E., Dobyns, W.B., Bier, A. and Rump, A.
Journal of Medical Genetics 53 (6): 419-425. June 2016

The WOPR protein Ros1 is a master regulator of sporogenesis and late effector gene expression in the maize pathogen Ustilago maydis.
Tollot, M., Assmann, D., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dutheil, J.Y., Wegner, C.E. and Kahmann, R.
PLoS Pathogens 12 (6): e1005697. June 2016

Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations.
Laghmani, K., Beck, B.B., Yang, S.S., Seaayfan, E., Wenzel, A., Reusch, B., Vitzthum, H., Priem, D., Demaretz, S., Bergmann, K., Duin, L.K., Göbel, H., Mache, C., Thiele, H., Bartram, M.P., Dombret, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Benzing, T., Levtchenko, E., Seyberth, H.W., Klaus, G., Yigit, G., Lin, S.H., Timmer, A., de Koning, T.J., Scherjon, S.A., Schlingmann, K.P., Bertrand, M.J.M., Rinschen, M.M., de Backer, O., Konrad, M. and Kömhoff, M.
New England Journal of Medicine 374 (19): 1853-1863. 12 May 2016

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: expanding the mutational spectrum.
Moosa, S., Obregon, M.G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Fano, V. and Wollnik, B.
American Journal of Medical Genetics Part A 170 (5): 1295-1301. May 2016

Transcriptome analysis of murine olfactory sensory neurons during development using single cell RNA-Seq.
Scholz, P., Kalbe, B., Jansen, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Mohrhardt, J., Schreiner, B., Gisselmann, G., Hatt, H. and Osterloh, S.
Chemical Senses 41 (4): 313-323. May 2016

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Spier, I., Kerick, M., Drichel, D., Horpaopan, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Laner, A., Holzapfel, S., Peters, S., Adam, R., Zhao, B., Becker, T., Lifton, R.P., Holinski-Feder, E., Perner, S., Thiele, H., Nöthen, M.M., Hoffmann, P., Timmermann, B., Schweiger, M.R. and Aretz, S.
Familial Cancer 15 (2): 281-288. April 2016

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Moosa, S., Chung, B.H.Y., Tung, J.Y.L., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Netzer, C., Nishimura, G. and Wollnik, B.
Clinical Genetics 89 (4): 517-519. April 2016

Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes.
Lal, D., Reinthaler, E.M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A.E., Schwarz, G., Riesch, E., Ikram, M.A., van Duijn, C.M., Uitterlinden, A.G., Hofman, A., Steinböck, H., Gruber-Sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y.G., Cilio, M.R., Kunz, W.S., Krause, R., Zimprich, F., Lemke, J.R., Nürnberg, P., Sander, T., Lerche, H. and Neubauer, B.A.
PLoS ONE 11 (3): e0150426. 18 March 2016

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Bartram, M.P., Habbig, S., Pahmeyer, C., Höhne, M., Weber, L.T., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kottoor, N., Wenzel, A., Krueger, M., Schermer, B., Benzing, T., Rinschen, M.M. and Beck, B.B.
Human Molecular Genetics 25 (6): 1152-1164. 15 March 2016

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Yigit, G., Wieczorek, D., Bögershausen, N., Beleggia, F., Möller-Hartmann, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P. and Wollnik, B.
American Journal of Medical Genetics Part A 170 (3): 728-733. March 2016

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella, E., Becker, F., Møller, R.S., Schubert, J., Lemke, J.R., Larsen, L.H.G., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Møller, L., Gellert, P., Heron, S.E., Dibbens, L.M., Weckhuysen, S., Dahl, H.A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. and Weber, Y.G.
Annals of Neurology 79 (3): 428-436. March 2016

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M.G., Niethammer, K., Fuchs, S., Eckl, K.M. ORCID logoORCID: https://orcid.org/0000-0001-8838-3998, Plank, R., Werner, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G.M., Lehmberg, K., Hennies, H.C. ORCID logoORCID: https://orcid.org/0000-0001-7210-2389 and Ehl, S.
Blood 127 (8): 997-1006. 25 February 2016

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski, S., Hussain, M.S., Sur, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Abdullah, U., Waseem, S.S., Moawia, A., Nürnberg, G., Noegel, A.A., Baig, S.M. and Nürnberg, P.
Human Genetics 135 (2): 157-170. February 2016

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann, M., Kakar, N., Tayebi, N., Leettola, C., Nürnberg, G., Sowada, N., Lupiáñez, D.G. ORCID logoORCID: https://orcid.org/0000-0002-3165-036X, Harabula, I. ORCID logoORCID: https://orcid.org/0000-0002-9094-0519, Flöttmann, R., Horn, D., Chan, W.L., Wittler, L., Yilmaz, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., van Bokhoven, H., Schwartz, C.E., Nürnberg, P., Bowie, J.U., Ahmad, J., Kubisch, C. ORCID logoORCID: https://orcid.org/0000-0003-4220-0978, Mundlos, S. and Borck, G.
Genome Research 26 (2): 183-191. February 2016

Characterization of the olfactory receptors expressed in human spermatozoa.
Flegel, C., Vogel, F., Hofreuter, A., Schreiner, B.S.P., Osthold, S., Veitinger, S., Becker, C., Brockmeyer, N.H., Muschol, M., Wennemuth, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hatt, H. and Gisselmann, G.
Frontiers in Molecular Biosciences 2 : 73. 7 January 2016

Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing.
Lal, D., Neubauer, B.A., Toliat, M.R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Kamrath, C., Schänzer, A., Sander, T., Hahn, A. and Nothnagel, M.
PLoS ONE 11 (1): e0146040. January 2016

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley, M.E., Murina, O., Leitch, A., Higgs, M.R., Bicknell, L.S., Yigit, G., Blackford, A.N., Zlatanou, A., Mackenzie, K.J., Reddy, K., Halachev, M., McGlasson, S., Reijns, M.A.M., Fluteau, A., Martin, C.A., Sabbioneda, S., Elcioglu, N.H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Greenhalgh, L., Chessa, L., Maghnie, M., Salim, M., Bober, M.B., Nürnberg, P., Jackson, S.P., Hurles, M.E., Wollnik, B., Stewart, G.S. and Jackson, A.P.
Nature Genetics 48 (1): 36-43. January 2016

2015

Cold-aggravated pain in humans caused by a hyperactive Na(V)1.9 channel mutant.
Leipold, E., Hanson-Kahn, A., Frick, M., Gong, P., Bernstein, J.A., Voigt, M., Katona, I., Oliver Goral, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Weis, J., Hübner, C.A., Heinemann, S.H. and Kurth, I.
Nature Communications 6 : 10049. 8 December 2015

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott, A., Volk, A.E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Kubisch, C. and Neugebauer, A.
Graefes Archive for Clinical and Experimental Ophthalmology 253 (12): 2239-2246. December 2015

Ecological transcriptomics – a non-lethal sampling approach for endangered fire salamanders.
Czypionka, T., Krugman, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Blaustein, L., Steinfartz, S., Templeton, A.R., Nolte, A.W. and Leder, E.
Methods in Ecology and Evolution 6 (12): 1417-1425. December 2015

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Hübers, A., Just, W., Rosenbohm, A., Müller, K., Marroquin, N., Goebel, I., Högel, J., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Weishaupt, J.H., Kubisch, C., Ludolph, A.C. and Volk, A.E.
Neurobiology of Aging 36 (11): 3117.e1-3117.e6. November 2015

Floral induction in Arabidopsis by FLOWERING LOCUS T requires direct repression of BLADE-ON-PETIOLE genes by the homeodomain protein PENNYWISE.
Andrés, F., Romera-Branchat, M., Martínez-Gallegos, R., Patel, V., Schneeberger, K., Jang, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. and Coupland, G.
Plant Physiology 169 (3): 2187-2199. November 2015

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch, B., Basmanav, F.B., Nanda, A., Fritz, G., Mahmoudi, H., Thiele, H., Wehner, M., Wolf, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Frank, J. and Betz, R.C.
American Journal of Medical Genetics Part A 167 (11): 2555-2562. November 2015

Telomerase activation by genomic rearrangements in high-risk neuroblastoma.
Peifer, M., Hertwig, F. ORCID logoORCID: https://orcid.org/0000-0003-4784-6516, Roels, F., Dreidax, D., Gartlgruber, M., Menon, R., Krämer, A., Roncaioli, J.L., Sand, F., Heuckmann, J.M., Ikram, F., Schmidt, R., Ackermann, S., Engesser, A., Kahlert, Y., Vogel, W., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Thierry-Mieg, J., Thierry-Mieg, D., Mariappan, A., Heynck, S., Mariotti, E., Henrich, K.O., Gloeckner, C., Bosco, G., Leuschner, I., Schweiger, M.R., Savelyeva, L., Watkins, S.C., Shao, C., Bell, E., Höfer, T., Achter, V., Lang, U., Theissen, J., Volland, R., Saadati, M., Eggert, A., de Wilde, B., Berthold, F., Peng, Z., Zhao, C., Shi, L., Ortmann, M., Büttner, R., Perner, S., Hero, B., Schramm, A., Schulte, J.H. ORCID logoORCID: https://orcid.org/0000-0003-0671-1201, Herrmann, C., O'Sullivan, R.J., Westermann, F., Thomas, R.K. and Fischer, M.
Nature 526 (7575): 700-704. 29 October 2015

Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex.
Olbrich, H., Cremers, C., Loges, N.T., Werner, C., Nielsen, K.G., Marthin, J.K., Philipsen, M., Wallmeier, J., Pennekamp, P., Menchen, T., Edelbusch, C., Dougherty, G.W., Schwartz, O., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Rommelmann, F. and Omran, H.
American Journal of Human Genetics 97 (4): 546-54. 1 October 2015

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Kuechler, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Kotthoff, S., Kubisch, C. and Borck, G.
Molecular and Cellular Probes 29 (5): 330-334. October 2015

Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus).
Cheng, J., Sedlazek, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Nolte, A.W.
Proceedings of the Royal Society of London Series B-Biological Sciences 282 (1815): 20150746. 22 September 2015

Comprehensive genomic profiles of small cell lung cancer.
George, J., Lim, J.S., Jang, S.J., Cun, Y., Ozretić, L., Kong, G., Leenders, F., Lu, X., Fernández-Cuesta, L., Bosco, G., Müller, C., Dahmen, I., Jahchan, N.S., Park, K.S., Yang, D., Karnezis, A.N., Vaka, D., Torres, A., Wang, M.S., Korbel, J.O., Menon, R., Chun, S.M., Kim, D., Wilkerson, M., Hayes, N., Engelmann, D., Pützer, B., Bos, M., Michels, S., Vlasic, I., Seidel, D., Pinther, B., Schaub, P., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Yokota, J., Kohno, T., Iwakawa, R., Tsuta, K., Noguchi, M., Muley, T., Hoffmann, H., Schnabel, P.A., Petersen, I., Chen, Y., Soltermann, A., Tischler, V., Choi, C.M., Kim, Y.H., Massion, P.P., Zou, Y., Jovanovic, D., Kontic, M., Wright, G.M., Russell, P.A., Solomon, B., Koch, I., Lindner, M., Muscarella, L.A., la Torre, A., Field, J.K., Jakopovic, M., Knezevic, J., Castaños-Vélez, E., Roz, L., Pastorino, U., Brustugun, O.T., Lund-Iversen, M., Thunnissen, E., Köhler, J., Schuler, M., Botling, J., Sandelin, M., Sanchez-Cespedes, M., Salvesen, H.B., Achter, V., Lang, U., Bogus, M., Schneider, P.M., Zander, T., Ansén, S., Hallek, M., Wolf, J., Vingron, M., Yatabe, Y., Travis, W.D., Nürnberg, P., Reinhardt, C., Perner, S., Heukamp, L., Büttner, R., Haas, S.A., Brambilla, E., Peifer, M., Sage, J. and Thomas, R.K.
Nature 524 (7563): 47-53. 6 August 2015

Mutational dynamics between primary and relapse neuroblastomas.
Schramm, A., Köster, J., Assenov, Y., Althoff, K., Peifer, M., Mahlow, E., Odersky, A., Beisser, D., Ernst, C., Henssen, A.G. ORCID logoORCID: https://orcid.org/0000-0003-1534-778X, Stephan, H., Schröder, C., Heukamp, L., Engesser, A., Kahlert, Y., Theissen, J., Hero, B., Roels, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Astrahantseff, K., Gloeckner, C., De Preter, K., Plass, C., Lee, S., Lode, H.N., Henrich, K.O., Gartlgruber, M., Speleman, F., Schmezer, P., Westermann, F., Rahmann, S., Fischer, M., Eggert, A. and Schulte, J.H. ORCID logoORCID: https://orcid.org/0000-0003-0671-1201
Nature Genetics 47 (8): 872-877. August 2015

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Spier, I., Holzapfel, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Zhao, B., Horpaopan, S., Vogt, S., Chen, S., Morak, M., Raeder, S., Kayser, K., Stienen, D., Adam, R., Nürnberg, P., Plotz, G., Holinski-Feder, E., Lifton, R.P., Thiele, H., Hoffmann, P., Steinke, V. and Aretz, S.
International Journal of Cancer 137 (2): 320-331. 15 July 2015

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin, N., Elcioglu, N.H., Beleggia, F., Isgüven, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Steindl, K., Joset, P., Rauch, A., Nürnberg, P., Wollnik, B. and Yigit, G.
Human Molecular Genetics 24 (13): 3708-3717. 1 July 2015

Implementation of amplicon parallel sequencing leads to improvement of diagnosis and therapy of lung cancer patients.
König, K., Peifer, M., Fassunke, J., Ihle, M.A., Künstlinger, H., Heydt, C., Stamm, K., Ueckeroth, F., Vollbrecht, C., Bos, M., Gardizi, M., Scheffler, M., Nogova, L., Leenders, F., Albus, K., Meder, L., Becker, K., Florin, A., Rommerscheidt-Fuss, U., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kloth, M., Nürnberg, P., Henkel, T., Bikár, S.E., Sos, M.L., Geese, W.J., Strauss, L., Ko, Y.D., Gerigk, U., Odenthal, M., Zander, T., Wolf, J., Merkelbach-Bruse, S., Buettner, R. and Heukamp, L.C.
Journal of Thoracic Oncology 10 (7): 1049-1057. July 2015

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S., Mizumoto, S., Kogawa, R., Becker, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Rueschendorf, F. ORCID logoORCID: https://orcid.org/0000-0001-5640-810X, Toliat, M.R., Kaleschke, G., Haemmerle, J.M., Hoehne, W., Sugahara, K., Nuernberg, P. and Kennerknecht, I.
Human Genetics 134 (7): 691-704. July 2015

Rare variants in GABA(A) receptor genes in Rolandic epilepsy and related syndromes.
Reinthaler, E.M., Dejanovic, B., Lal, D., Semtner, M. ORCID logoORCID: https://orcid.org/0000-0001-9379-9023, Merkler, Y., Reinhold, A., Pittrich, D.A., Hotzy, C., Feucht, M., Steinboeck, H., Gruber-Sedlmayr, U., Ronen, G., Neophytou, B., Geldner, J., Haberlandt, E., Muhle, H., Ikram, M.A., van Duijn, CM., Uitterlinden, A.G., Hofman, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kawalia, A., Toliat, M.R., Nuernberg, P., Lerche, H., Nothnagel, M., Thiele, H., Sander, T., Meier, J.C. ORCID logoORCID: https://orcid.org/0000-0001-5574-3336, Schwarz, G., Neubauer, B.A. and Zimprich, F.
Annals of Neurology 77 (6): 972-986. June 2015

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler, E.M., Dejanovic, B., Lal, D., Semtner, M. ORCID logoORCID: https://orcid.org/0000-0001-9379-9023, Merkler, Y., Reinhold, A., Pittrich, D.A., Hotzy, C., Feucht, M., Steinböck, H., Gruber-Sedlmayr, U., Ronen, G.M., Neophytou, B., Geldner, J., Haberlandt, E., Muhle, H., Ikram, M.A., van Duijn, C.M., Uitterlinden, A.G., Hofman, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Kawalia, A., Toliat, M.R., Nürnberg, P., Lerche, H., Nothnagel, M., Thiele, H., Sander, T., Meier, J.C. ORCID logoORCID: https://orcid.org/0000-0002-2041-8872, Schwarz, G., Neubauer, B.A. and Zimprich, F.
Annals of Neurology 77 (6): 972-986. June 2015

CWC22-dependent pre-mRNA splicing and eIF4A3 binding enables global deposition of exon junction complexes.
Steckelberg, A.L., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Dieterich, C. and Gehring, N.H.
Nucleic Acids Research 43 (9): 4687-4700. 19 May 2015

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed, S.M., Phillips, J.B., Heller, R., Thoenes, M., Elsobky, E., Nürnberg, G., Nürnberg, P., Seland, S., Ebermann, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Toliat, M., Körber, F., Hu, X.J., Wu, Y.D., Zaki, M.S., Abdel-Salam, G., Gleeson, J., Boltshauser, E., Westerfield, M. and Bolz, H.J.
Human Molecular Genetics 24 (9): 2594-2603. 1 May 2015

CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia, E.C., Myers, C.T., Leu, C., de Kovel, C.G.F., Afrikanova, T., Cordero-Maldonado, M.L., Martins, T.G., Jacmin, M., Drury, S., Krishna Chinthapalli, V., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A.K., Møller, R.S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A.E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Gaudio, L.D., Boustred, C., Schneider, A.L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L.G., Mullen, S.A., Berkovic, S.F, Stephani, U., Helbig, I., Crawford, A.D., Esguerra, C.V., Kasteleijn-Nolst Trenité, D.G.A., Koeleman, B.P.C., Mefford, H.C., Scheffer, I.E. and Sisodiya, S.M.
Brain 138 (5): 1198-1207. May 2015

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Horpaopan, S., Spier, I., Zink, A.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Holzapfel, S., Laner, A., Vogt, S., Uhlhaas, S., Heilmann, S., Stienen, D., Pasternack, S.M., Keppler, K., Adam, R., Kayser, K., Moebus, S., Draaken, M., Degenhardt, F., Engels, H., Hofmann, A., Nöthen, M.M., Steinke, V., Perez-Bouza, A., Herms, S., Holinski-Feder, E., Fröhlich, H., Thiele, H., Hoffmann, P. and Aretz, S.
International Journal of Cancer 136 (6): E578–E589. 15 March 2015

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies.
Borck, G., Hög, F., Dentici, M.L., Tan, P.L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T.L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D.J., Altmüller, J., Reymond, A., Nürnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. and Kubisch, C.
Genome Research 25 (2): 155-166. February 2015

Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
Basmanav, F.B., Fritz, G., Lestringant, G.G., Pachat, D., Hoffjan, S., Fischer, J., Wehner, M., Wolf, S., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Pulimood, S.A., Rütten, A., Kruse, R., Hanneken, S., Frank, J., Danda, S., Bygum, A. and Betz, R.C.
Journal of Investigative Dermatology 135 (2): 615-618. February 2015

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.
Fernandez-Cuesta, L., Sun, R., Menon, R., George, J., Lorenz, S., Meza-Zepeda, L.A., Peifer, M., Plenker, D., Heuckmann, J.M., Leenders, F., Zander, T., Dahmen, I., Koker, M., Schöttle, J., Ullrich, R.T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Nürnberg, P., Seidel, H., Böhm, D., Göke, F., Ansén, S., Russell, P.A., Wright, G.M., Wainer, Z., Solomon, B., Petersen, I., Clement, J.H., Sänger, J., Brustugun, O.T., Helland, Å., Solberg, S., Lund-Iversen, M., Buettner, R., Wolf, J., Brambilla, E., Vingron, M., Perner, S., Haas, S.A. and Thomas, R.K.
Genome Biology 16 : 7. 5 January 2015

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Kakar, N., Ahmad, J., Morris-Rosendahl, D.J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W.B. and Borck, G.
Human Genetics 134 (1): 45-51. January 2015

Deep sequencing of the murine olfactory receptor neuron transcriptome.
Kanageswaran, N., Demond, M., Nagel, M., Schreiner, B.S.P., Baumgart, S., Scholz, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Doerner, J.F., Conrad, H., Oberland, S., Wetzel, C.H., Neuhaus, E.M., Hatt, H. and Gisselmann, G.
PLoS ONE 10 (1): e0113170. 2015

Label-free protein-RNA interactome analysis identifies khsrp signaling downstream of the p38/Mk2 kinase complex as a critical modulator of cell cycle progression.
Boucas, J., Fritz, C., Schmitt, A., Riabinska, A., Thelen, L., Peifer, M., Leeser, U., Nuernberg, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Gaestel, M., Dieterich, C. and Reinhardt, H.C.
PLoS ONE 10 (5): e0125745. 2015

RNA-Seq analysis of human trigeminal and dorsal root ganglia with a focus on chemoreceptors.
Flegel, C., Schöbel, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Tannapfel, A., Hatt, H. and Gisselmann, G.
PLoS ONE 10 (6): e0128951. 2015

2014

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke, N., Caliebe, A., Koenig, R., Kant, S.G., Stark, Z., Cormier-Daire, V., Wieczorek, D., Gillessen-Kaesbach, G., Hoff, K., Kawalia, A., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Fischer-Zirnsak, B., Knaus, A., Zhu, N., Heinrich, V., Huber, C., Harabula, I. ORCID logoORCID: https://orcid.org/0000-0002-9094-0519, Spielmann, M., Horn, D., Kornak, U., Hecht, J., Krawitz, P.M. ORCID logoORCID: https://orcid.org/0000-0002-3194-8625, Nürnberg, P., Siebert, R., Manzke, H. and Mundlos, S.
American Journal of Human Genetics 95 (6): 763-70. 4 December 2014

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin, C.A., Ahmad, I., Klingseisen, A., Hussain, M.S., Bicknell, L.S., Leitch, A., Nürnberg, G., Toliat, M.R., Murray, J.E., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Keith, C., Harley, M.E., Heyn, P., Müller, R., Hoffmann, I., Cormier-Daire, V., Dollfus, H., Dupuis, L., Bashamboo, A., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A.T., Saggar, A., Schlechter, C., Weleber, R., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Höhne, W., Hurles, M.E., Noegel, A.A., Baig, S.M., Nürnberg, P. and Jackson, A.P.
Nature Genetics 46 (12): 1283-1292. December 2014

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan, M.A., Rupp, V.M., Orpinell, M., Hussain, M.S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Steinmetz, M.O., Enzinger, C., Thiele, H., Höhne, W., Nürnberg, G., Baig, S.M., Ansar, M., Nürnberg, P., Vincent, J.B., Speicher, M.R., Gönczy, P. and Windpassinger, C.
Human Molecular Genetics 23 (22): 5940-5949. 15 November 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain, M.S., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M.R., Sakakibara, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, G., Moosa, S., Yigit, G., Beleggia, F., Tinschert, S., Clayton-Smith, J., Vasudevan, P., Urquhart, J.E., Donnai, D., Fryer, A., Percin, F., Brancati, F., Dobbie, A., Smigiel, R., Gillessen-Kaesbach, G., Wollnik, B., Noegel, A.A., Newman, W.G. and Nürnberg, P.
American Journal of Human Genetics 95 (5): 622-632. 6 November 2014

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel, D., Vaz, B., Halder, S., Lockhart, P.J., Marinovic-Terzic, I., Lopez-Mosqueda, J., Philipp, M., Sim, J.C.H., Smith, K.R., Oehler, J., Cabrera, E., Freire, R., Pope, K., Nahid, A., Norris, F., Leventer, R.J., Delatycki, M., Barbi, G., von Ameln, S., Högel, J., Degoricija, M., Fertig, R., Burkhalter, M.D., Hofmann, K., Thiele, H., Altmüller, J., Nürnberg, G., Nürnberg, P., Bahlo, M., Martin, G.M., Aalfs, C.M., Oshima, J., Terzic, J., Amor, D.J., Dikic, I., Ramadan, K. and Kubisch, C.
Nature Genetics 46 (11): 1239-1244. November 2014

CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins.
Gao, J., Schatton, D., Martinelli, P., Hansen, H., Pla-Martin, D., Barth, E., Becker, C., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Sardiello, M. and Rugarli, E.I.
Journal of Cell Biology 207 (2): 213-223. 27 October 2014

Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck, B.B., Phillips, J.B., Bartram, M.P., Wegner, J., Thoenes, M., Pannes, A., Sampson, J., Heller, R., Göbel, H., Koerber, F., Neugebauer, A., Hedergott, A., Nürnberg, G., Nürnberg, P., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Toliat, M.R., Staubach, S., Boycott, K.M., Valente, E.M., Janecke, A.R., Eisenberger, T., Bergmann, C., Tebbe, L., Wang, Y., Wu, Y., Fry, A.M., Westerfield, M., Wolfrum, U. and Bolz, H.J.
Human Mutation 35 (10): 1153-1162. October 2014

Deciphering the genetic basis of microcystin tolerance.
Schwarzenberger, A., Sadler, T., Motameny, S., Ben-Khalifa, K., Frommolt, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Konrad, K. and von Elert, E.
BMC Genomics 15 : 776. 9 September 2014

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler, E.M., Lal, D., Jurkowski, W., Feucht, M., Steinböck, H., Gruber-Sedlmayr, U., Ronen, G.M., Geldner, J., Haberlandt, E., Neophytou, B., Hahn, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Toliat, M.R., Lerche, H., Nürnberg, P., Sander, T., Neubauer, B.A. and Zimprich, F.
Epilepsia 55 (8): 89-93. August 2014

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
Dejanovic, B., Lal, D., Catarino, C.B., Arjune, S., Belaidi, A.A., Trucks, H., Vollmar, C., Surges, R., Kunz, W.S., Motameny, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Köhler, A., Neubauer, B.A., Nürnberg, P., Noachtar, S., Schwarz, G. and Sander, T.
Neurobiology of Disease 67 : 88-96. July 2014

DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal, D., Reinthaler, E.M., Schubert, J., Muhle, H., Riesch, E., Kluger, G., Jabbari, K., Kawalia, A., Bäumel, C., Holthausen, H., Hahn, A., Feucht, M., Neophytou, B., Haberlandt, E., Becker, F., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Lemke, J.R., Lerche, H., Nürnberg, P., Sander, T., Weber, Y., Zimprich, F. and Neubauer, B.A.
Annals of Neurology 75 (5): 788-792. May 2014

CD74–NRG1 fusions in lung adenocarcinoma.
Fernandez-Cuesta, L., Plenker, D., Osada, H., Sun, R., Menon, R., Leenders, F., Ortiz-Cuaran, S., Peifer, M., Bos, M., Daßler, J., Malchers, F., Schöttle, J., Vogel, W., Dahmen, I., Koker, M., Ullrich, R.T., Wright, G.M., Russell, P.A., Wainer, Z., Solomon, B., Brambilla, E., Nagy-Mignotte, H., Moro-Sibilot, D., Brambilla, C.G., Lantuejoul, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Nürnberg, P., Heuckmann, J.M., Stoelben, E., Petersen, I., Clement, J.H., Sänger, J., Muscarella, L.A., la Torre, A., Fazio, V.M., Lahortiga, I., Perera, T., Ogata, S., Parade, M., Brehmer, D., Vingron, M., Heukamp, L.C., Buettner, R., Zander, T., Wolf, J., Perner, S., Ansén, S., Haas, S.A., Yatabe, Y. and Thomas, R.K.
Cancer Discovery 4 (4): 415-22. 1 April 2014

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.
Fernandez-Cuesta, L., Peifer, M., Lu, X., Sun, R., Ozretić, L., Seidal, D., Zander, T., Leenders, F., George, J., Müller, C., Dahmen, I., Pinther, B., Bosco, G., Konrad, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Achter, V., Lang, U., Schneider, P.M., Bogus, M., Soltermann, A., Brustugun, O.T., Helland, Å., Solberg, S., Lund-Iversen, M., Ansén, S., Stoelben, E., Wright, G.M., Russell, P., Wainer, Z., Solomon, B., Field, J.K., Hyde, R., Davies, M.P., Heukamp, L.C., Petersen, I., Perner, S., Lovly, C., Cappuzzo, F., Travis, W.D., Wolf, J., Vingron, M., Brambilla, E., Haas, S.A., Buettner, R. and Thomas, R.K.
Nature Communications 5 : 3518. 27 March 2014

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics.
Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Budde, B.S. and Nürnberg, P.
Biological Chemistry 395 (2): 231-237. 1 February 2014

Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels.
Portelli, M.A., Siedlinski, M., Stewart, C.E., Postma, D.S., Nieuwenhuis, M.A., Vonk, J.M., Nurnberg, P., Altmuller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Moffatt, M.F., Wardlaw, A.J., Parker, S.G., Connolly, M.J., Koppelman, G.H. and Sayers, I.
FASEB Journal 28 (2): 923-934. February 2014

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly.
Metodiev, M.D., Spåhr, H., Loguercio Polosa, P., Meharg, C., Becker, C., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Habermann, B., Larsson, N.G. and Ruzzenente, B.
PLoS Genetics 10 (2): e1004110. February 2014

Mutations in POGLUT1, encoding protein o-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav, F.B., Oprisoreanu, A.M., Pasternack, S.M., Thiele, H., Fritz, G., Wenzel, J., Größer, L., Wehner, M., Wolf, S., Fagerberg, C., Bygum, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Rütten, A., Parmentier, L., El Shabrawi-Caelen, L., Hafner, C., Nürnberg, P., Kruse, R., Schoch, S., Hanneken, S. and Betz, R.C.
American Journal of Human Genetics 94 (1): 135-143. 2 January 2014

2013

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda.
Schiffer, P.H., Kroiher, M., Kraus, C., Koutsovoulos, G.D., Kumar, S., Camps, J.I.R., Nsah, N.A., Stappert, D., Morris, K., Heger, P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Nürnberg, P., Thomas, W.K., Blaxter, M.L. and Schierenberg, E.
BMC Genomics 14 : 923. 27 December 2013

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Alanay, Y., Kayserili, H., Klein-Hitpass, L., Böhringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., Cogulu, O., Cristofoli, F., Czeschik, J.C., Devriendt, K., Dotti, M.T., Elcioglu, N., Gener, B., Goecke, T.O., Krajewska-Walasek, M., Guillén-Navarro, E., Hayek, J., Houge, G., Kilic, E., Simsek-Kiper, P.Ö., López-González, V., Kuechler, A., Lyonnet, S., Mari, F., Marozza, A., Mathieu Dramard, M., Mikat, B., Morin, G., Morice-Picard, F., Ozkinay, F., Rauch, A., Renieri, A., Tinschert, S., Utine, G.E., Vilain, C., Vivarelli, R., Zweier, C., Nürnberg, P., Rahmann, S., Vermeesch, J., Lüdecke, H.J., Zeschnigk, M. and Wollnik, B.
Human Molecular Genetics 22 (25): 5121-5135. 20 December 2013

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Szczepanski, S., Nürnberg, G., Tariq, M., Jameel, M., Khan, T.N., Fatima, A., Malik, N.A., Ahmad, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Thiele, H., Höhne, W., Yigit, G., Wollnik, B., Neubauer, B.A., Nürnberg, P. and Noegel, A.A.
Human Molecular Genetics 22 (25): 5199-5214. 20 December 2013

Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.).
Acevedo-Garcia, J., Collins, N.C., Ahmadinejad, N., Ma, L., Houben, A., Bednarek, P., Benjdia, M., Freialdenhoven, A., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Reinhardt, R., Schulze-Lefert, P. and Panstruga, R.
Theoretical and Applied Genetics 126 (12): 2969-2982. December 2013

Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in trigeminal ganglia.
Manteniotis, S., Lehmann, R., Flegel, C., Vogel, F., Hofreuter, A., Schreiner, B.S.P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Schöbel, N., Hatt, H. and Gisselmann, G.
PLoS ONE 8 (11): e79523. 8 November 2013

A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold, E., Liebmann, L., Korenke, G.C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R.O., Stödberg, T., Hennings, J.C., Bergmann, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Wetzel, A., Nürnberg, P., Timmerman, Vi., De Jonghe, P., Blum, R., Schaible, H.G., Weis, J., Heinemann, S.H., Hübner, C.A. and Kurth, I.
Nature Genetics 45 (11): 1399-1404. November 2013

A genomics-based classification of human lung tumors.

Science Translational Medicine 5 (209): 209ra153. 30 October 2013

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rösler, S., Pannes, A., Zarrinnam, D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Nürnberg, G., Nürnberg, P., Hahnen, E. and Beck, B.B.
PLoS ONE 8 (10): e76414. 4 October 2013

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler, K., Malik, M., Mahmood, S., Gießelmann, S., Beetz, C., Hennings, J.C., Huebner, A.K., Grahn, A., Reunert, J., Nürnberg, G., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Mumtaz, R., Babovic-Vuksanovic, D., Basel-Vanagaite, L., Borck, G., Brämswig, J., Mühlenberg, R., Sarda, P., Sikiric, A., Anyane-Yeboa, K., Zeharia, A., Ahmad, A., Coubes, C., Wada, Y., Marquardt, T., Vanderschaeghe, D., Van Schaftingen, E., Kurth, I., Huebner, A. and Hübner, C.A.
American Journal of Human Genetics 93 (4): 727-734. 3 October 2013

Sensitive detection of viral transcripts in human tumor transcriptomes.
Schelhorn, S.E., Fischer, M., Tolosi, L., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Pfister, H., Lengauer, T. and Berthold, F.
PLoS Computational Biology 9 (10): e1003228. 3 October 2013

RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
Lal, D., Reinthaler, E.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Toliat, M.R., Thiele, H., Nürnberg, P., Lerche, H., Hahn, A., Møller, R.S., Muhle, H., Sander, T., Zimprich, F. and Neubauer, B.A.
PLoS ONE 8 (9): e73323. 6 September 2013

SOX9 duplication linked to intersex in deer.
Kropatsch, R., Dekomien, G., Akkad, D.A., Gerding, W.M., Petrasch-Parwez, E., Young, N.D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Gasser, R.B. and Epplen, J.T.
PLoS ONE 8 (9): e73734. 6 September 2013

Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissues.
Becker, K., Vollbrecht, C., Koitzsch, U., Koenig, K., Fassunke, J., Huss, S., Nuernberg, P., Heukamp, L.C., Buettner, R., Odenthal, M., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Merkelbach-Bruse, S.
Journal of Clinical Pathology 66 (9): 803-806. 1 September 2013

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Eckl, K.M. ORCID logoORCID: https://orcid.org/0000-0001-8838-3998, Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Müller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, H.C. ORCID logoORCID: https://orcid.org/0000-0001-7210-2389
Journal of Investigative Dermatology 133 (9): 2202-2211. September 2013

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke, J.R., Lal, D., Reinthaler, E.M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., Franke, A., Schilhabel, M., Jähn, J.A., Muhle, H., Boor, R., Van Paesschen, W., Caraballo, R., Fejerman, N., Weckhuysen, S., De Jonghe, P., Larsen, J., Møller, R.S., Hjalgrim, H., Addis, L., Tang, S., Hughes, E., Pal, D.K., Veri, K., Vaher, U., Talvik, T., Dimova, P., Guerrero López, R., Serratosa, J.M., Linnankivi, T., Lehesjoki, A.E., Ruf, S., Wolff, M., Buerki, S., Wohlrab, G., Kroell, J., Datta, A.N., Fiedler, B., Kurlemann, G., Kluger, G., Hahn, A., Haberlandt, D.E., Kutzer, C., Sperner, J., Becker, F., Weber, Y.G., Feucht, M., Steinböck, H., Neophythou, B., Ronen, G.M., Gruber-Sedlmayr, U., Geldner, J., Harvey, R.J., Hoffmann, P., Herms, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Toliat, M.R., Thiele, H., Nürnberg, P., Wilhelm, C., Stephani, U., Helbig, I., Lerche, H., Zimprich, F., Neubauer, B.A., Biskup, S. and von Spiczak, S.
Nature Genetics 45 (9): 1067-1072. September 2013

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen, N., Shahrzad, N., Chong, J.X., von Kleist-Retzow, J.C., Stanga, D., Li, Y., Bernier, F.P., Loucks, C.M., Wirth, R., Puffenberger, E.G., Hegele, R.A., Schreml, J., Lapointe, G., Keupp, K., Brett, C.L., Anderson, R., Hahn, A., Innes, A.M., Suchowersky, O., Mets, M.B., Nürnberg, G., McLeod, D.R., Thiele, H., Waggoner, D., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Boycott, K.M., Schoser, B., Nürnberg, P., Ober, C., Heller, R., Parboosingh, J.S., Wollnik, B., Sacher, M. and Lamont, R.E.
American Journal of Human Genetics 93 (1): 181-190. 11 July 2013

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga, R.E., Schüle, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nürnberg, G., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Alvarez, V., Gamez, J., Garbern, J.Y., Nürnberg, P., Zuchner, S. and Beetz, C.
Human Mutation 34 (6): 860-863. 20 May 2013

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire, M., Frémeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W.H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J.D., Mane, S.M., Nürnberg, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Morin, D., Deschenes, G., Baudouin, V., Llanas, B., Collard, L., Majid, M.A., Simkova, E., Nürnberg, P., Rioux-Leclerc, N., Moeckel, G.W., Gubler, M.C., Hwa, J., Loirat, C. and Lifton, R.P.
Nature Genetics 45 (5): 531-536. May 2013

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Beetz, C., Johnson, A., Schuh, A.L., Thakur, S., Varga, R.E., Fothergill, T., Hertel, N., Bomba-Warczak, E., Thiele, H., Nürnberg, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Saxena, R., Chapman, E.R., Dent, E.W., Nürnberg, P. and Audhya, A.
Proceedings of the National Academy of Sciences of the United States of America 110 (13): 5091-5096. 26 March 2013

Human trace amine-associated receptor TAAR5 can be activated by trimethylamine.
Wallrabenstein, I., Kuklan, J., Weber, L., Zborala, S., Werner, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Schmidt, A., Hatt, H., Hummel, T. and Gisselmann, G.
PLoS ONE 8 (2): e54950. 5 February 2013

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.
Lal, D., Becker, K., Motameny, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Ahting, U., Rolinski, B., Neubauer, B.A. and Hahn, A.
Neurogenetics 14 (1): 85-87. February 2013

Next generation sequencing of the Ago2 interacting transcriptome identified chemokine family members as novel targets of neuronal microRNAs in hepatic stellate cells.
Noetel, A., Elfimova, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Becker, D., Lahr, W., Nürnberg, P., Wasmuth, H., Teufel, A., Büttner, R., Dienes, H.P. and Odenthal, M.
Journal of Hepatology 58 (2): 335-341. February 2013

2012

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., Thiele, H., Edwards, A., Arends, M.J., Miró, X., White, J.K., Désir, J., Abramowicz, M., Dentici, M.L., Lepri, F., Hofmann, K., Har-Zahav, A., Ryder, E., Karp, N.A., Estabel, J., Gerdin, A.K.B., Podrini, C., Ingham, N.J., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, G., Frommolt, P., Abdelhak, S., Pasmanik-Chor, M., Konen, O., Kelley, R.I., Shohat, M., Nürnberg, P., Flint, J., Steel, K.P., Hoppe, T., Kubisch, C., Adams, D.J. and Borck, G.
American Journal of Human Genetics 91 (6): 998-1010. 7 December 2012

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck, G., Shin, B.S., Stiller, B., Mimouni-Bloch, A., Thiele, H., Kim, J.R., Thakur, M., Skinner, C., Aschenbach, L., Smirin-Yosef, P., Har-Zahav, A., Nürnberg, G., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Hofmann, K., Konen, O., Nürnberg, P., Munnich, A., Schwartz, C.E., Gothelf, D., Colleaux, L., Dever, T.E., Kubisch, C. and Basel-Vanagaite, L.
Molecular Cell 48 (4): 641-6. 30 November 2012

Trigeminal ganglion neurons of mice show intracellular chloride accumulation and chloride-dependent amplification of capsaicin-induced responses.
Schöbel, Ni., Radtke, D., Lübbert, M., Gisselmann, G., Lehmann, R., Cichy, A., Schreiner, B.S.P., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Spector, A.C., Spehr, J., Hatt, H. and Wetzel, C.H.
PLoS ONE 7 (11): e48005. 8 November 2012

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.
Peifer, M., Fernández-Cuesta, L., Sos, M.L., George, J., Seidel, D., Kasper, L.H., Plenker, D., Leenders, F., Sun, R., Zander, T., Menon, R., Koker, M., Dahmen, I., Müller, C., Di Cerbo, V., Schildhaus, H.U., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Baessmann, I., Becker, C., de Wilde, B., Vandesompele, J., Böhm, D., Ansén, S., Gabler, F., Wilkening, I., Heynck, S., Heuckmann, J.M., Lu, X., Carter, S.L., Cibulskis, K., Banerji, S., Getz, G., Park, K.S., Rauh, D., Grütter, C., Fischer, M., Pasqualucci, L., Wright, G., Wainer, Z., Russell, P., Petersen, I., Chen, Y., Stoelben, E., Ludwig, C., Schnabel, P., Hoffmann, H., Muley, T., Brockmann, M., Engel-Riedel, W., Muscarella, L.A., Fazio, V.M., Groen, H., Timens, W., Sietsma, H., Thunnissen, E., Smit, E., Heideman, D.A.M., Snijders, P.J.F., Cappuzzo, F., Ligorio, C., Damiani, S., Field, J., Solberg, S., Brustugun, O.T., Lund-Iversen, M., Sänger, J., Clement, J.H., Soltermann, A., Moch, H., Weder, W., Solomon, B., Soria, J.C., Validire, P., Besse, B., Brambilla, E., Brambilla, C., Lantuejoul, S., Lorimier, P., Schneider, P.M., Hallek, M., Pao, W., Meyerson, M., Sage, J., Shendure, J., Schneider, R., Büttner, R., Wolf, J., Nürnberg, P., Perner, S., Heukamp, L.C., Brindle, P.K., Haas, S. and Thomas, R.K.
Nature Genetics 44 (10): 1104-10. October 2012

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich, H., Thiele, H., Ohlenbusch, A., Maschke, U., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Zirn, B., Ebinger, F., Siemes, H., Nürnberg, P., Brockmann, K. and Gärtner, J.
Lancet Neurology 11 (9): 764-73. September 2012

Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses.
O'Connell, R.J., Thon, M.R., Hacquard, S., Amyotte, S.G., Kleemann, J., Torres, M.F., Damm, U., Buiate, E.A., Epstein, L., Alkan, N., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Alvarado-Balderrama, L., Bauser, C.A., Becker, C., Birren, B.W., Chen, Z., Choi, J., Crouch, J.A., Duvick, J.P., Farman, M.A., Gan, P., Heiman, D., Henrissat, B., Howard, R.J., Kabbage, M., Koch, C., Kracher, B., Kubo, Y., Law, A.D., Lebrun, M.H., Lee, Y.H., Miyara, I., Moore, N., Neumann, U., Nordström, K., Panaccione, D.G., Panstruga, R., Place, M., Proctor, R.H., Prusky, D., Rech, G., Reinhardt, R., Rollins, J.A., Rounsley, S., Schardl, C.L., Schwartz, D.C., Shenoy, N., Shirasu, K., Sikhakolli, U.R., Stüber, K., Sukno, S.A., Sweigard, J.A., Takano, Y., Takahara, H., Trail, F., van der Does, H.C., Voll, L.M., Will, I., Young, S., Zeng, Q., Zhang, J., Zhou, S., Dickman, M.B., Schulze-Lefert, P., Ver Loren van Themaat, E., Ma, L.J. and Vaillancourt, L.J.
Nature Genetics 44 (9): 1060-5. September 2012

Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity.
Bettecken, T., Frenkel, Z.M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P. and Trifonov, E.N.
Journal of Biomolecular Structure & Dynamics 30 (2): 211-6. 12 June 2012

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Hussain, M.S., Baig, S.M., Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H.C., Technau, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Thiele, H., Noegel, A.A. and Nürnberg, P.
American Journal of Human Genetics 90 (5): 871-8. 4 May 2012

Genome-wide association study of lung function decline in adults with and without asthma.
Imboden, M., Bouzigon, E., Curjuric, I., Ramasamy, A., Kumar, A., Hancock, D.B., Wilk, J.B., Vonk, J.M., Thun, G.A., Siroux, V., Nadif, R., Monier, F., Gonzalez, J.R., Wjst, M., Heinrich, J., Loehr, L.R., Franceschini, N., North, K.E., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Koppelman, G.H., Guerra, S., Kronenberg, F., Lathrop, M., Moffatt, M.F., O'Connor, G.T., Strachan, D.P., Postma, D.S., London, S.J., Schindler, C., Kogevinas, M., Kauffmann, Fr., Jarvis, D.L., Demenais, F. and Probst-Hensch, N.M.
Journal of Allergy and Clinical Immunology 129 (5): 1218-28. May 2012

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
Asharani, P.V., Keupp, K., Semler, O., Wang, W., Li, Y., Thiele, H., Yigit, G., Pohl, E., Becker, J., Frommolt, P., Sonntag, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Zimmermann, K., Greenspan, D.S., Akarsu, N.A., Netzer, C., Schönau, E., Wirth, R., Hammerschmidt, M., Nürnberg, P., Wollnik, B. and Carney, T.J.
American Journal of Human Genetics 90 (4): 661-74. 6 April 2012

Assessing the enrichment performance in targeted resequencing experiments.
Frommolt, P., Abdallah, A.T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Thiele, H., Becker, C., Stemshorn, K., Fischer, M., Freilinger, T. and Nürnberg, P.
Human Mutation 33 (4): 635-41. April 2012

2011

Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome.
Weber, S., Thiele, H., Mir, S., Toliat, M.R., Sozeri, B., Reutter, H., Draaken, M., Ludwig, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Frommolt, P., Stuart, H.M, Ranjzad, P., Hanley, N.A., Jennings, R., Newman, W.G., Wilcox, D.T., Thiel, U., Schlingmann, K.P., Beetz, R., Hoyer, P.F., Konrad, M., Schaefer, F., Nürnberg, P. and Woolf, A.S.
American Journal of Human Genetics 89 (5): 668-74. 11 November 2011

Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA.
Bundschuh, R., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Becker, C., Nürnberg, P. and Gott, J.M.
Nucleic Acids Research 39 (14): 6044-55. 1 August 2011

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner, A.K., Gandia, M., Frommolt, P., Maak, A., Wicklein, E.M., Thiele, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Wagner, F., Viñuela, A., Aguirre, L.A., Moreno, F., Maier, H., Rau, I., Giesselmann, S., Nürnberg, G., Gal, A., Nürnberg, P., Hübner, C.A., del Castillo, I. and Kurth, I.
American Journal of Human Genetics 88 (5): 621-7. 13 May 2011

Benchmarking of mutation diagnostics in clinical lung cancer specimens.
Querings, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ansén, S., Zander, T., Seidel, D., Gabler, F., Peifer, M., Markert, E., Stemshorn, K., Timmermann, B., Saal, B., Klose, S., Ernestus, K., Scheffler, M., Engel-Riedel, W., Stoelben, E., Brambilla, E., Wolf, J., Nürnberg, P. and Thomas, R.K.
PLoS ONE 6 (5): e19601. 5 May 2011

2010

Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.
Weiss, J., Sos, M.L., Seidel, D., Peifer, M., Zander, T., Heuckmann, J.M., Ullrich, R.T., Menon, R., Maier, S., Soltermann, A., Moch, H., Wagener, P., Fischer, F., Heynck, S., Koker, M., Schöttle, J., Leenders, F., Gabler, F., Dabow, I., Querings, S., Heukamp, L.C., Balke-Want, H., Ansén, S., Rauh, D., Baessmann, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Wainer, Z., Conron, M., Wright, G., Russell, P., Solomon, B., Brambilla, E., Brambilla, C., Lorimier, P., Sollberg, S., Brustugun, O.T., Engel-Riedel, W., Ludwig, C., Petersen, I., Sänger, J., Clement, J., Groen, H., Timens, W., Sietsma, H., Thunnissen, E., Smit, E., Heideman, D., Cappuzzo, F., Ligorio, C., Damiani, S., Hallek, M., Beroukhim, R., Pao, W., Klebl, B., Baumann, M., Buettner, R., Ernestus, K., Stoelben, E., Wolf, J., Nürnberg, P., Perner, S. and Thomas, R.K
Science Translational Medicine 2 (62): 62ra93. 15 December 2010

A sequence variant on 17q21 is associated with age at onset and severity of asthma.
Halapi, E., Gudbjartsson, D.F., Jonsdottir, G.M., Bjornsdottir, U.S., Thorleifsson, G., Helgadottir, H., Williams, C., Koppelman, G.H., Heinzmann, A., Boezen, H.M., Jonasdottir, A., Blondal, T., Gudjonsson, S.A., Jonasdottir, A., Thorlacius, T., Henry, A.P., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Krueger, M., Shin, H.D., Uh, S.T., Cheong, H.S., Jonsdottir, B., Ludviksson, B.R., Ludviksdottir, D., Gislason, D., Park, C.S., Deichmann, K., Thompson, P.J., Wjst, M., Hall, I.P., Postma, D.S., Gislason, T., Kong, A., Jonsdottir, I., Thorsteinsdottir, U. and Stefansson, K.
European Journal of Human Genetics 18 (8): 902-8. August 2010

Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms.
Vistoropsky, Y., Ermakov, S., Toliat, M.R., Trofimov, S., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Malkin, I., Nürnberg, P. and Livshits, G.
Cytokine 51 (1): 28-34. July 2010

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population.
Ermakov, S., Toliat, M.R., Cohen, Z., Malkin, I., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Livshits, G. and Nürnberg, P.
Bone 46 (5): 1244-50. May 2010

2009

X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women.
Siddiqui, R.A., Sauermann, U., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Fritzer, E., Nothnagel, M., Dalibor, N., Fellay, J., Kaup, F.J., Stahl-Hennig, C., Nürnberg, P., Krawczak, M. and Platzer, M.
American Journal of Human Genetics 85 (2): 228-39. 14 August 2009

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
Gudbjartsson, D.F., Bjornsdottir, U.S., Halapi, E., Helgadottir, A., Sulem, P., Jonsdottir, G.M., Thorleifsson, G., Helgadottir, H., Steinthorsdottir, V., Stefansson, H., Williams, C., Hui, J., Beilby, J., Warrington, N.M., James, A., Palmer, L.J., Koppelman, G.H., Heinzmann, A., Krueger, M., Boezen, H.M., Wheatley, A., Altmuller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Shin, H.D., Uh, S.T., Cheong, H.S., Jonsdottir, B., Gislason, D., Park, C.S., Rasmussen, L.M., Porsbjerg, C., Hansen, J.W., Backer, V., Werge, T., Janson, C., Jönsson, U.B., Ng, M.C.Y., Chan, J., So, W.Y., Ma, R., Shah, S.H., Granger, C.B., Quyyumi, A.A., Levey, A.I., Vaccarino, V., Reilly, M.P., Rader, D.J., Williams, M.J.A., van Rij, A.M., Jones, G.T., Trabetti, E., Malerba, G., Pignatti, P.F., Boner, A., Pescollderungg, L., Girelli, D., Olivieri, O., Martinelli, N., Ludviksson, B.R., Ludviksdottir, D., Eyjolfsson, G.I., Arnar, D., Thorgeirsson, G., Deichmann, K., Thompson, P.J., Wjst, M., Hall, I.P., Postma, D.S., Gislason, T., Gulcher, J., Kong, A., Jonsdottir, I., Thorsteinsdottir, U. and Stefansson, K.
Nature Genetics 41 (3): 342-7. March 2009

2007

A genome-wide linkage scan for 25-OH-D(3) and 1,25-(OH)2-D3 serum levels in asthma families.
Wjst, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Braig, C., Bahnweg, M. and André, E.
Journal of Steroid Biochemistry and Molecular Biology 103 (3-5): 799-802. March 2007

2006

Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
Wjst, M., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Faus-Kessler, T., Braig, C., Bahnweg, M. and André, E.
Respiratory Research 7 : 60. 6 April 2006

2005

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Seidel, C., Lee, Y.A. ORCID logoORCID: https://orcid.org/0000-0002-1817-9163, Loesgen, S., Bulle, D., Friedrichs, F., Jellouschek, H., Kelber, J., Keller, A., Schuster, A., Silbermann, M., Wahlen, W., Wolff, P., Rueschendorf, F. ORCID logoORCID: https://orcid.org/0000-0001-5640-810X, Schlenvoigt, G., Nuernberg, P. and Wjst, M.
BMC Pulmonary Medicine 5 : 1. 5 January 2005

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
Kurz, T., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Strauch, K., Rueschendorf, F. ORCID logoORCID: https://orcid.org/0000-0001-5640-810X, Heinzmann, A., Moffatt, M.F., Cookson, W.O.C.M., Inacio, F., Nuernberg, P., Stassen, H.H. and Deichmann, K.A.
Allergy 60 : 192-199. 1 January 2005

2004

Single nucleotide polymorphism screening and association analysis--exclusion of integrin beta 7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma.
Vollmert, C., Illig, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Klugbauer, S., Loesgen, S., Dumitrescu, L. and Wjst, M.
Clinical and Experimental Allergy 34 (12): 1841-50. December 2004

Association of the interleukin-1 receptor antagonist gene with asthma.
Gohlke, H., Illig, T., Bahnweg, M., Klopp, N., André, E., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Herbon, N., Werner, M., Knapp, M., Pescollderungg, L., Boner, A., Malerba, G., Pignatti, P.F. and Wjst, M.
American Journal of Respiratory and Critical Care Medicine 169 (11): 1217-23. 1 June 2004

Asthma is associated with single-nucleotide polymorphisms in ADAM33.
Werner, M., Herbon, N., Gohlke, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Knapp, M., Heinrich, J. and Wjst, M.
Clinical and Experimental Allergy 34 (1): 26-31. January 2004

2003

High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases.
Herbon, N., Werner, M., Braig, C., Gohlke, H., Dütsch, G., Illig, T., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Hampe, J., Lantermann, A., Schreiber, S., Bonifacio, E., Ziegler, A., Schwab, S., Wildenauer, D., van den Boom, D., Braun, A., Knapp, M., Reitmeir, P. and Wjst, M.
Genomics 81 (5): 510-8. May 2003

2002

STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study.
Duetsch, G., Illig, T., Loesgen, S., Rohde, K., Klopp, N., Herbon, N., Gohlke, H., Altmueller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521 and Wjst, M.
Human Molecular Genetics 11 (6): 613-621. 1 January 2002

2001

Genomewide scans of complex human diseases: true linkage is hard to find.
Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Palmer, L.J., Fischer, G., Scherb, H. and Wjst, M.
American Journal of Human Genetics 69 (5): 936-50. November 2001

2000

Type 2 diabetes-like hyperglycemia in a backcross model of NZO and SJL mice: characterization of a susceptibility locus on chromosome 4 and its relation with obesity.
Plum, L., Kluge, R., Giesen, K., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Ortlepp, J.R. and Joost, H.G.
Diabetes 49 (9): 1590-6. 1 September 2000

1999

Neonatal diabetes mellitus with hypergalactosemia.
Kentrup, H., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Pfäffle, R. and Heimann, G.
European Journal of Endocrinology 141 (4): 379-81. October 1999

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