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2024

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko, M. and Elseed, M.A. and Mohammed, I.N. and Hamed, A.A. and Abd Allah, A.S.I. and Yahia, A. and Siddig, R.A. and Altmüller, J. and Toliat, M.R. and Elmahdi, E.O. and Amin, M. and Ahmed, E. A. and Eltazi, I.Z.M. and Elmugadam, F.A. and Abdelgadir, W.A. and Eltaraifee, E. and Ibrahim, M.O.M. and Ali, N.M.H. and Malik, H.M. and Babai, A.M. and Bakhit, Y.H. and Nürnberg, P. and Ibrahim, M.E. and Salih, M.A. and Schubert, J. and Elsayed, L.E.O. and Lerche, H.
European Journal of Human Genetics 5 February 2024 (In Press)

SORCS2 activity in pancreatic α-cells safeguards insulin granule formation and release from glucose-stressed β-cells.
Kalnytska, O. and Qvist, P. and Kunz, S. and Conrad, T. and Willnow, T.E. and Schmidt, V.
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. and Campe, J. and Sunaga-Franze, D.Y. and Verheyden, N.A. and Ghimire, S. and Meedt, E. and Haslinger, D. and Harenkamp, S. and Staudenraus, D. and Sauer, S. and Kreft, A. and Schubert, R. and Lohoff, M. and Krueger, A. and Bonig, H. and Chiocchetti, A.G. and Zeiser, R. and Holler, E. and Ullrich, E.
OncoImmunology 13 (1): 2296712. 2024

2023

XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes.
Chatzinikolaou, G. and Stratigi, K. and Siametis, A. and Goulielmaki, E. and Akalestou-Clocher, A. and Tsamardinos, I. and Topalis, P. and Austin, C. and Bouwman, B.A.M. and Crosetto, N. and Altmüller, J. and Garinis, G.A.
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. and Kleinenkuhnen, N. and Parekh, S. and Sandoval, T. and Ziegenhain, C. and Schneider, F. and Giavalisco, P. and Donahue, K.F. and Vesting, A.J. and Kirchner, M. and Bozukova, M. and Vossen, C. and Altmüller, J. and Wunderlich, T. and Sandberg, R. and Kondylis, V. and Tresch, A. and Tessarz, P.
Nature Aging 3 (11): 1430-1445. November 2023

Potential contribution of ancient introgression to the evolution of a derived reproductive strategy in ricefishes.
Flury, J.M. and Meusemann, K. and Martin, S. and Hilgers, L. and Spanke, T. and Böhne, A. and Herder, F. and Mokodongan, D. and Altmüller, J. and Wowor, D. and Misof, B. and 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. and Erger, F. and Kohl, S. and Reusch, B. and Wenzel, A. and Walsh, S. and Thiele, H. and Becker, C. and Franitza, M. and Bartram, M.P. and Kömhoff, M. and Schumacher, L. and Kukat, C. and Borodina, T. and Quedenau, C. and Nürnberg, P. and Rinschen, M.M. and Driller, J.H. and Pedersen, B.P. and Schlingmann, K.P. and Hüttel, B. and Bockenhauer, D. and Beck, B. and Altmüller, J.
Genome Medicine 15 (1): 62. 23 August 2023

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad, I. and Lokau, J. and Kespohl, B. and Malik, N.A. and Baig, S.M. and Hartig, R. and Behme, D. and Schwab, R. and Altmüller, J. and Jameel, M. and Mucha, S. and Thiele, H. and Tariq, M. and Nürnberg, P. and 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. and Walter, S. and Markó, L. and McMurray, B.J. and Sunaga-Franze, D.Y. and Xu, M. and Zühlke, K. and Russwurm, M. and Bartolomaeus, T.U.P. and Langanki, R. and Qadri, F. and Heuser, A. and Patzak, A. and Forslund, S.K. and Bähring, S. and Borodina, T. and Persson, P.B. and Maass, P.G. and Bader, M. and Klussmann, E.
Kidney International 104 (2): 388-393. August 2023

Platelet-derived factors dysregulate placental sphingosine-1-phosphate receptor 2 in human trophoblasts.
Lyssy, F. and Guettler, J. and Brugger, B.A. and Stern, C. and Forstner, D. and Nonn, O. and Fischer, C. and Herse, F. and Wernitznig, S. and Hirschmugl, B. and 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. and Metzen, F. and Hopkinson, M. and Betz, J. and Heilig, J. and Sodhi, J. and Imhof, T. and Niehoff, A. and Birk, D.E. and Izu, Y. and Krüger, M. and Pitsillides, A. A. and Altmüller, J. and van Osch, G.J.V.M. and Straub, V. and Schreiber, G. and Paulsson, M. and 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. and Stachelscheid, J. and Bloehdorn, J. and Pacholewska, A. and Aszyk, C.M. and Grotenhuijs, F. and Müller, T.A. and Onder, O. and Wagle, P. and Herling, C.D. and Kleppe, M. and Wang, Z. and Coombes, K.R. and Robrecht, S. and Dalvi, P.S. and Plosnita, B. and Mayer, P. and Abruzzo, L.V. and Altmüller, J. and Gathof, B.S. and Persigehl, T. and Fischer, K. and Jebaraj, B.M.C. and Rienhoff, H.Y. and Ecker, R.C. and Zhao, Y. and Bruns, C.J. and Stilgenbauer, S. and Elenitoba-Johnson, K.S.J. and Hallek, M. and Schweiger, M.R. and Odenthal, M. and 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. and Muinjonov, B. and Rosiewicz, K.S. and Diecke, S. and Biese, C. and Schiweck, J. and Chien, C. and Zocholl, D. and Conrad, T. and Paul, F. and Alisch, M. and Siffrin, V.
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. and Orgeur, M. and Comai, G. and Poehle-Kronnawitter, S. and Fischer, C. and Gloger, M. and Dumas, C.E. and Giesecke-Thiel, C. and Sauer, S. and Tajbakhsh, S. and Höpken, U.E. 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. and Haslinger, D. and Lindlar, S. and Thiele, H. and Bernsen, N. and Zahnert, F. and Reif, P.S. and Balcik, Y. and Au, P.Y.B. and Josephson, C. and Altmüller, J. and Strzelczyk, A. and Knake, S. and Rosenow, F. and Chiocchetti, A. and Klein, K.M.
Epilepsia Open 8 (2): 497-508. June 2023

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger, F. and Aryal, R.P. and Reusch, B. and Matsumoto, Y. and Meyer, R. and Zeng, J. and Knopp, C. and Noel, M. and Muerner, L. and Wenzel, A. and Kohl, S. and Tschernoster, N. and Rappl, G. and Rouvet, I. and Schröder-Braunstein, J. and Seibert, F.S. and Thiele, H. and Häusler, M.G. and Weber, L.T. and Büttner-Herold, M. and Elbracht, M. and Cummings, S.F. and Altmüller, J. and Habbig, S. and Cummings, R.D. and Beck, B.B.
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. and Hartl, K. and Heuberger, J. and Beccaceci, G. and Berger, H. and Li, H. and Liu, L. and Müllerke, S. and Conrad, T. and Heymann, F. and Woehler, A. and Tacke, F. and Rajewsky, N. and Sigal, M.
Nature Communications 14 (1): 3025. 25 May 2023

The fate of oxidative strand breaks in mitochondrial DNA.
Trombly, G. and Said, A.M. and Kudin, A.P. and Peeva, V. and Altmüller, J. and Becker, K. and Köhrer, K. and Zsurka, G. and Kunz, W.S.
Antioxidants 12 (5): 1087. 12 May 2023

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder, S. and Yigit, G. and Li, Y. and Altmüller, J. and Büttel, H.M. and Fiedler, B. and Kretzschmar, C. and Nürnberg, P. and Seeger, J. and Serpieri, V. and Valente, E.M. and Wollnik, B. and Boltshauser, E. and Brockmann, K.
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. and Conrad, T. and Stöber, M.C. and Xu, R. and Giurgiu, M. and Rodriguez-Fos, E. and Kasack, K. and Brückner, L. and van Leen, E. and Helmsauer, K. and Dorado Garcia, H. and Stefanova, M.E. and Hung, K.L. and Bei, Y. and Schmelz, K. and Lodrini, M. and Mundlos, S. and Chang, H.Y. and Deubzer, H.E. and Sauer, S. and Eggert, A. and Schulte, J.H. and Schwarz, R.F. and Haase, K. and Koche, R.P. and Henssen, A.G.
Nature Genetics 55 (5): 880-890. May 2023

Genomic ALK alterations in primary and relapsed neuroblastoma.
Rosswog, C. and Fassunke, J. and Ernst, A. and Schömig-Markiefka, B. and Merkelbach-Bruse, S. and Bartenhagen, C. and Cartolano, M. and Ackermann, S. and Theissen, J. and Blattner-Johnson, M. and Jones, B. and Schramm, K. and Altmüller, J. and Nürnberg, P. and Ortmann, M. and Berthold, F. and Peifer, M. and Büttner, R. and Westermann, F. and Schulte, J.H. and Simon, T. and Hero, B. and Fischer, M.
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. and Al-Thihli, K. and Surowy, H. and Lüdecke, H.J. and Drechsler, M. and Yigit, G. and Smorag, L. and Hallak, B.A. and Li, Y. and Altmüller, J. and Guthoff, T. and Wallot, M. and Nürnberg, P. and Wollnik, B. and Abou Jamra, R. and Al-Maawali, A. 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. and Schuler, E. and Al-Maawali, A. and Chaurasia, A. and Syrbe, S. and Al-Kindi, A. and Bhavani, G.S. and Shukla, A. and Altmüller, J. and Nürnberg, P. and Banka, S. and Girisha, K.M. and Li, Y. and 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. and Alcala, N. and Sexton-Oates, A. and Di Genova, A. and Gonzalez-Perez, A. and Khandekar, A. and Bergstrom, E.N. and Kim, J. and Liu, X. and Blazquez-Encinas, R. and Giacobi, C. and Le Stang, N. and Boyault, S. and Cuenin, C. and Tabone-Eglinger, S. and Damiola, F. and Voegele, C. and Ardin, M. and Michallet, M.C. and Soudade, L. and Delhomme, T.M. and Poret, A. and Brevet, M. and Copin, M.C. and Giusiano-Courcambeck, S. and Damotte, D. and Girard, C. and Hofman, V. and Hofman, P. and Mouroux, J. and Cohen, C. and Lacomme, S. and Mazieres, J. and de Montpreville, V.T. and Perrin, C. and Planchard, G. and Rousseau, N. and Rouquette, I. and Sagan, C. and Scherpereel, A. and Thivolet, F. and Vignaud, J.M. and Jean, D. and Ilg, A.G.S. and Olaso, R. and Meyer, V. and Boland-Auge, A. and Deleuze, J.F. and Altmuller, J. and Nuernberg, P. and Ibáñez-Costa, A. and Castaño, J.P. and Lantuejoul, S. and Ghantous, A. and Maussion, C. and Courtiol, P. and Hernandez-Vargas, H. and Caux, C. and Girard, N. and Lopez-Bigas, N. and Alexandrov, L.B. and Galateau-Salle, F. and Foll, M. and Fernandez-Cuesta, L.
Nature Genetics 55 (4): 607-618. April 2023

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera, J.A. and Leu, C. and Macnee, M. and Khoury, J. and Hoffmann, L. and Coras, R. and Kobow, K. and Bhattarai, N. and Pérez-Palma, E. and Hamer, H. and Brandner, S. and Rössler, K. and Bien, C.G. and Kalbhenn, T. and Pieper, T. and Hartlieb, T. and Butler, E. and Genovese, G. and Becker, K. and Altmüller, J. and Niestroj, L.M. and Ferguson, L. and Busch, R.M. and Nürnberg, P. and Najm, I. and 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. and Hölker, I. and Tschernoster, N. and Hosseinibarkooie, S. and Come, J. and Martinat, C. and Altmüller, J. and Wirth, B.
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. and Pascual-Reguant, A. and Koehler, R. and Liebeskind, J. and Liebheit, A. and Bauherr, S. and Philipsen, L. and Dittmayer, C. and Laue, M. and von Manitius, R. and Elezkurtaj, S. and Durek, P. and Heinrich, F. and Heinz, G.A. and Guerra, G.M. and Obermayer, B. and Meinhardt, J. and Ihlow, J. and Radke, J. and Heppner, F.L. and Enghard, P. and Stockmann, H. and Aschman, T. and Schneider, J. and Corman, V.M. and Sander, L.E. and Mashreghi, M.F. and Conrad, T. and Hocke, A.C. and Niesner, R.A. and Radbruch, H. and Hauser, A.E.
Nature Communications 14 (1): 791. 11 February 2023

A single-cell RNA labeling strategy for measuring stress response upon tissue dissociation.
Neuschulz, A. and Bakina, O. and Badillo Lisakowski, V. and Olivares-Chauvet, P. and Conrad, T. and Gotthardt, M. and Kettenmann, H. and Junker, J.P.
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. and Keilholz, L. and Conrad, T. and Frentsch, M. and Blau, I.W. and Vuong, L. and Lesch, S. and Movasshagi, K. and Tietze-Stolley, C. and Loyal, L. and Henze, L. and Penack, O. and Stervbo, U. and Babel, N. and Haas, S. and Beule, D. and Bullinger, L. and Wittenbecher, Friedrich and Na, I.K.
Frontiers in Immunology 14 : 1114368. 10 February 2023

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

Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and development.
Freitag, K. and Eede, P. and Ivanov, A. and Sterczyk, N. and Schneeberger, S. and Borodina, T. and Sauer, S. and Beule, D. and Heppner, F.L.
Communications Biology 6 (1): 40. 13 January 2023

LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley, A.V. and Gutiérrez-Gutiérrez, O. and Hammer, E. and Steinegger, M. and Böhmer, L. and Schroeder, H. and Kleinsorge, M. and Altmüller, J. and Marbach, F. and Hasenfuss, G. and Zimmermann, W.H. and Wollnik, B. and Cyganek, L.
bioRxiv : 2023.01.10.523203. 10 January 2023

2022

Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA.
Keil, P. and Wulf, A. and Kachariya, N. and Reuscher, S. and Hühn, K. and Silbern, I. and Altmüller, J. and Keller, M. and Stehle, R. and Zarnack, K. and Sattler, M. and Urlaub, H. and Sträßer, K.
Nucleic Acids Research : gkac1206. 30 December 2022

SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolution.
Schumann, V.F. and de Castro Cuadrat, R.R. and Wyler, E. and Wurmus, R. and Deter, A. and Quedenau, C. and Dohmen, J. and Faxel, M. and Borodina, T. and Blume, A. and Freimuth, J. and Meixner, M. and Grau, J.H. and Liere, K. and Hackenbeck, T. and Zietzschmann, F. and Gnirss, R. and Böckelmann, U. and Uyar, B. and Franke, V. and Barke, N. and Altmüller, J. and Rajewsky, N. and Landthaler, M. and Akalin, A.
Science of the Total Environment 853 : 158931. 20 December 2022

Mutant phosphodiesterase 3A protects from hypertension-induced cardiac damage.
Ercu, M. and Mücke, M.B. and Pallien, T. and Markó, L. and Sholokh, A. and Schächterle, C. and Aydin, A. and Kidd, A. and Walter, S. and Esmati, Y. and McMurray, B.J. and Lato, D.F. and Sunaga-Franze, D.Y. and Dierks, P.H. and Flores, B.I.M. and Walker-Gray, R. and Gong, M. and Merticariu, C. and Zühlke, K. and Russwurm, M. and Liu, T. and Batolomaeus, T.U.P. and Pautz, S. and Schelenz, S. and Taube, M. and Napieczynska, H. and Heuser, A. and Eichhorst, J. and Lehmann, M. and Miller, D.C. and Diecke, S. and Qadri, F. and Popova, E. and Langanki, R. and Movsesian, M.A. and Herberg, F.W. and Forslund, S.K. and Müller, D.N. and Borodina, T. and Maass, P.G. and Bähring, S. and Hübner, N. and Bader, M. and Klussmann, E.
Circulation 146 (23): 1758-1778. 6 December 2022

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt, F. and Ellinghaus, D. and Juzenas, S. and Lerga-Jaso, J. and Wendorff, M. and Maya-Miles, D. and Uellendahl-Werth, F. and ElAbd, H. and Rühlemann, M.C. and Arora, J. and Özer, O. and Lenning, O.B. and Myhre, R. and Vadla, M.S. and Wacker, E.M. and Wienbrandt, L. and Ortiz, A.B. and de Salazar, A. and Chercoles, A.G. and Palom, A. and Ruiz, A. and Garcia-Fernandez, A.E. and Blanco-Grau, A. and Mantovani, A. and Zanella, A. and Holten, A.R. and Mayer, A. and Bandera, A. and Cherubini, A. and Protti, A. and Aghemo, A. and Gerussi, A. and Ramirez, A. and Braun, A. and Nebel, A. and Barreira, A. and Lleo, A. and Teles, A. and Kildal, A.B. and Biondi, A. and Caballero-Garralda, A. and Ganna, A. and Gori, A. and Glück, A. and Lind, A. and Tanck, A. and Hinney, A. and Nolla, A.C. and Fracanzani, A.L. and Peschuck, A. and Cavallero, A. and Dyrhol-Riise, A.M. and Ruello, A. and Julià, A. and Muscatello, A. and Pesenti, A. and Voza, A. and Rando-Segura, A. and Solier, A. and Schmidt, A. and Cortes, B. and Mateos, B. and Nafria-Jimenez, B. and Schaefer, B. and Jensen, B. and Bellinghausen, C. and Maj, C. and Ferrando, C. and Horra, C. and Quereda, C. and Skurk, C. and Thibeault, C. and Scollo, C. and Herr, C. and Spinner, C.D. and Gassner, C. and Lange, C. and Hu, C. and Paccapelo, C. and Lehmann, C. and Angelini, C. and Cappadona, C. and Azuure, C. and Bianco, C. and Cea, C. and Sancho, C. and Hoff, D.A.L. and Galimberti, D. and Prati, D. and Haschka, D. and Jiménez, D. and Pestaña, D. and Toapanta, D. and Muñiz-Diaz, E. and Azzolini, E. and Sandoval, E. and Binatti, E. and Scarpini, E. and Helbig, E.T. and Casalone, E. and Urrechaga, E. and Paraboschi, E.M. and Pontali, E. and Reverter, E. and Calderón, E.J. and Navas, E. and Solligård, E. and Contro, E. and Arana-Arri, E. and Aziz, F. and Garcia, F. and Sánchez, F.G. and Ceriotti, F. and Martinelli-Boneschi, F. and Peyvandi, F. and Kurth, F. and Blasi, F. and Malvestiti, F. and Medrano, F.J. and Mesonero, F. and Rodriguez-Frias, F. and Hanses, F. and Müller, F. and Hemmrich-Stanisak, G. and Bellani, G. and Grasselli, G. and Pezzoli, G. and Costantino, G. and Albano, G. and Cardamone, G. and Bellelli, G. and Citerio, G. and Foti, G. and Lamorte, G. and Matullo, G. and Baselli, G. and Kurihara, H. and Neb, H. and My, I. and Kurth, I. and Hernández, I. and Pink, I. and Rojas, I. and Galván-Femenia, I. and Holter, J.C. and Afset, J.E. and Heyckendorf, J. and Kässens, J. and Damås, J.K. and Rybniker, J. and Altmüller, J. and Ampuero, J. and Martín, J. and Erdmann, J. and Banales, J.M. and Badia, J.R. and Dopazo, J. and Schneider, J. and Bergan, J. and Barretina, J. and Walter, J. and Quero, J.H. and Goikoetxea, J. and Delgado, J. and Guerrero, J.M. and Fazaal, J. and Kraft, J. and Schröder, J. and Risnes, K. and Banasik, K. and Müller, K.E. and Gaede, K.I. and Garcia-Etxebarria, K. and Tonby, K. and Heggelund, L. and Izquierdo-Sanchez, L. and Bettini, L.Rachele and Sumoy, L. and Sander, L.E. and Lippert, L.J. and Terranova, L. and Nkambule, L. and Knopp, L. and Gustad, L.T. and Garbarino, L. and Santoro, L. and Téllez, L. and Roade, L. and Ostadreza, M. and Intxausti, M. and Kogevinas, M. and Riveiro-Barciela, M. and Berger, M.M. and Schaefer, M. and Niemi, M.E.K. and Gutiérrez-Stampa, M.A. and Carrabba, M. and Figuera Basso, M.E. and Valsecchi, M.G. and Hernandez-Tejero, M. and Vehreschild, M.J.G.T and Manunta, M. and Acosta-Herrera, M. and D'Angiò, M. and Baldini, M. and Cazzaniga, M. and Grimsrud, M.M. and Cornberg, M. and Nöthen, M.M. and Marquié, M. and Castoldi, M. and Cordioli, M. and Cecconi, M. and D'Amato, M. and Augustin, M. and Tomasi, M. and Boada, M. and Dreher, M. and Seilmaier, M.J. and Joannidis, M. and Wittig, M. and Mazzocco, M. and Ciccarelli, M. and Rodríguez-Gandía, M. and Bocciolone, M. and Miozzo, M. and Ayo, N.I. and Blay, N. and Chueca, N. and Montano, N. and Braun, N. and Ludwig, N. and Marx, N. and Martínez, N. and Cornely, O.A. and Witzke, O. and Palmieri, O. and Faverio, P. and Preatoni, P. and Bonfanti, P. and Omodei, P. and Tentorio, P. and Castro, P. and Rodrigues, P.M. and España, P.P. and Hoffmann, P. and Rosenstiel, P. and Schommers, P. and Suwalski, P. and Pablo, R. and Ferrer, R. and Bals, R. and Gualtierotti, R. and Gallego-Durán, R. and Nieto, R. and Carpani, R. and Morilla, R. and Badalamenti, S. and Haider, S. and Ciesek, S. and May, S. and Bombace, S. and Marsal, S. and Pigazzini, S. and Klein, S. and Pelusi, S. and Wilfling, S. and Bosari, S. and Volland, S. and Brunak, S. and Raychaudhuri, S. and Schreiber, S. and Heilmann-Heimbach, S. and Aliberti, S. and Ripke, S. and Dudman, S. and Wesse, T. and Zheng, T. and Bahmer, T. and Eggermann, T. and Illig, T. and Brenner, T. and Pumarola, T. and Feldt, T. and Folseraas, T. and Cejudo, T.G. and Landmesser, U. and Protzer, U. and Hehr, U. and Rimoldi, V. and Monzani, V. and Skogen, V. and Keitel, V. and Kopfnagel, V. and Friaza, V. and Andrade, V. and Moreno, V. and Albrecht, W. and Peter, W. and Poller, W. and Farre, X. and Yi, X. and Wang, X. and Khodamoradi, Y. and Karadeniz, Z. and Latiano, A. and Goerg, S. and Bacher, P. and Koehler, P. and Tran, F. and Zoller, H. and Schulte, E.C. and Heidecker, B. and Ludwig, K.U. and Fernández, J. and Romero-Gómez, M. and Albillos, A. and Invernizzi, P. and Buti, M. and Duga, S. and Bujanda, L. and Hov, J.R. and Lenz, T.L. and Asselta, R. and Cid, R. and Valenti, L. and Karlsen, T.H. and 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. and Jais, A. and Klemm, P. and Steuernagel, L. and Wienand, P. and Fog-Tonnesen, M. and Hvid, H. and Schumacher, A.L. and Kukat, C. and Nolte, H. and Georgomanolis, T. and Altmüller, J. and Pasparakis, M. and Schmidt, A. and Krüger, M. and Supprian, M.S. and Waisman, A. and Straub, B.K. and Raschzok, N. and Bernier, M. and Birkenfeld, A.L. and Hövelmeyer, N. and 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. and Beckmann, L. and Grimm, C. and Oliverio, M. and Meder, L. and Herling, C.D. and Nieper, P. and Feldmann, T. and Merkel, O. and Lorsy, E. and da Palma Guerreiro, A. and von Jan, J. and Kisis, I. and Wasserburger, E. and Claasen, J. and Faitschuk-Meyer, E. and Altmüller, J. and Nürnberg, P. and Yang, T.P. and Lienhard, M. and Herwig, R. and Kreuzer, K.A. and Pallasch, C.P. and Buettner, R. and Schäfer, S.C. and Hartley, J. and Abken, H. and Peifer, M. and Kashkar, H. and Knittel, G. and Eichhorst, B. and Ullrich, R.T. and Herling, M. and Reinhardt, H.C. and Hallek, M. and 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. and Dreha-Kulaczewski, S. and Zafeiriou, M.P. and Schreiber, M.K. and Wilken, B. and Funke, R. and Neuhofer, C.M. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Biskup, S. and Li, Y. and Zimmermann, W.H. and Kaulfuß, S. and 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 and Belhaj, S. and Tawalbeh, E. and Nagels, D. and Fröhlich, Y. and Finzer, P. and Ciruela, P. and Sabrià, A. and Herrero, M. and Andrés, C. and Antón, A. and Benmoumene, A. and Asskali, D. and Haidar, H. and von Dahlen, J. and Nicolai, J. and Stiller, M. and Blum, J. and Lange, C. and Adelmann, C. and Schroer, B. and Osmers, U. and Grice, C. and Kirfel, P.P. and Jomaa, H. and Strelow, D. and Hülse, L. and Pigulla, M. and Kreuzer, P. and Tyshaieva, A. and Weber, J. and Wienemann, T. and Kohns Vasconcelos, M. and Hoffmann, K. and Lübke, N. and Hauka, S. and Andree, M. and Scholz, C.J. and Jazmati, N. and Göbels, K. and Zotz, R. and Pfeffer, K. and Timm, J. and Ehlkes, L. and 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. and Khan, A. and Noor Ul Ayan, H. and Budde, B. and Altmüller, J. and Korejo, A.A. and Nürnberg, G. and Thiele, H. and Tariq, M. and 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. and Kummer, D. and Forstner, D. and Guettler, J. and Ghaffari-Tabrizi-Wizsy, N. and Fischer, C. and Juch, H. and Nonn, O. and Gauster, M.
International Journal of Molecular Sciences 23 (20): 12326. October 2022

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

Reliable assessment of telomere maintenance mechanisms in neuroblastoma.
Meeser, A. and Bartenhagen, C. and Werr, L. and Hellmann, A.M. and Kahlert, Y. and Hemstedt, N. and Nürnberg, P. and Altmüller, J. and Ackermann, S. and Hero, B. and Simon, T. and Peifer, M. and Fischer, M. and Rosswog, C.
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. and Erger, F. and Altmüller, J. and Wenzel, A. and Thiele, H. and Harth, A. and Tschernoster, N. and Lokhande, S. and Joerres, A. and Becker, J.U. and Ekici, A. and Huettel, B. and 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. and Jepsen, W.M. and Efthymiou, S. and Salpietro, V. and Sanchez-Castillo, M. and Yip, J. and Kriouile, Y. and Diegmann, S. and Dreha-Kulaczewski, S. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Toosi, M.B. and Akhondian, J. and Ghayoor Karimiani, E. and Hummel-Abmeier, H. and Huppke, B. and Houlden, H. and Gärtner, J. and Maroofian, R. and Huppke, P.
Brain 145 (9): 3022-3034. September 2022

Full-length spatial transcriptomics reveals the unexplored isoform diversity of the myocardium post-MI.
Boileau, E. and Li, X. and Naarmann-de Vries, I.S. and Becker, C. and Casper, R. and Altmüller, J. and Leuschner, F. and Dieterich, C.
Frontiers in Genetics 13 : 912572. 22 July 2022

Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA.
Keil, P. and Wulf, A. and Kachariya, N. and Reuscher, S. and Hühn, K. and Silbern, I. and Altmüller, J. and Stehle, R. and Zarnack, K. and Sattler, M. and Urlaub, H. and Sträßer, K.
bioRxiv : 2022.07.22.501171. 22 July 2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif, M. and Kaygusuz, E. and Shinawi, M. and Nickelsen, A. and Hsieh, T.C. and Wagle, P. and Budde, B. and Hochscherf, J. and Abdullah, U. and Höning, S. and Nienberg, C. and Lindenblatt, D. and Noegel, A.A. and Altmüller, J. and Thiele, H. and Motameny, S. and Fleischer, N. and Segal, I. and Pais, L. and Tinschert, S. and Samra, N.G. and Savatt, J.M. and Rudy, N.L. and De Luca, C. and Fortugno, P. and White, S.M. and Krawitz, P. and Hurst, A.C.E. and Niefind, K. and Jose, J. and Brancati, F. and 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. and Weber-Lassalle, N. and Joly-Beauparlant, C. and Ernst, C. and Droit, A. and Feng, B.J. and Dubois, S. and Collin-Deschesnes, A.C. and Soucy, P. and Vallée, M. and Fournier, F. and Lemaçon, A. and Adank, M.A. and Allen, J. and Altmüller, J. and Arnold, N. and Ausems, M.G.E.M. and Berutti, R. and Bolla, M.K. and Bull, S. and Carvalho, S. and Cornelissen, S. and Dufault, M.R. and Dunning, A.M. and Engel, C. and Gehrig, A. and Geurts-Giele, W.R.R. and Gieger, C. and Green, J. and Hackmann, K. and Helmy, M. and Hentschel, J. and Hogervorst, F.B.L. and Hollestelle, A. and Hooning, M.J. and Horváth, J. and Ikram, M.A. and Kaulfuß, S. and Keeman, R. and Kuang, D. and Luccarini, C. and Maier, W. and Martens, J.W.M. and Niederacher, D. and Nürnberg, P. and Ott, C.E. and Peters, A. and Pharoah, P.D.P. and Ramirez, A. and Ramser, J. and Riedel-Heller, S. and Schmidt, G. and Shah, M. and Scherer, M. and Stäbler, A. and Strom, T.M. and Sutter, C. and Thiele, H. and van Asperen, C.J. and van der Kolk, L. and van der Luijt, R.B. and Volk, A.E. and Wagner, M. and Waisfisz, Q. and Wang, Q. and Wang-Gohrke, S. and Weber, B.H.F. and Devilee, P. and Tavtigian, S. and Bader, G.D. and Meindl, A. and Goldgar, D.E. and Andrulis, I.L. and Schmutzler, R.K. and Easton, D.F. and Schmidt, M.K. and Hahnen, E. and Simard, J.
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. and Borde, J. and Möllenhoff, K. and Kayali, M. and Ernst, C. and Gehrig, A. and Sutter, C. and Ramser, J. and Niederacher, D. and Horváth, J. and Arnold, N. and Meindl, A. and Auber, B. and Rump, A. and Wang-Gohrke, S. and Ritter, J. and Hentschel, J. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Rhiem, K. and Engel, C. and Wappenschmidt, B. and Schmutzler, R.K. and 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. and Sterczyk, N. and Wendlinger, S. and Obermayer, B. and Schulz, J. and Farztdinov, V. and Mülleder, M. and Ralser, M. and Houtman, J. and Fleck, L. and Braeuning, C. and Sansevrino, R. and Hoffmann, C. and Milovanovic, D. and Sigrist, S.J. and Conrad, T. and Beule, D. and 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. and Altmüller, J. and Quedenau, C. and Borodina, T. and Nouailles, G. and Teixeira Alves, L.G. and Landthaler, M. and Bieniara, M. and Trimpert, J. and Wyler, E.
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. and Violano, M. and Müller, M. and Patriki, D. and Thibeault, C. and Quedenau, C. and Wang, X. and Karadeniz, Z. and Saccomanno, J. and Doehn, J.M. and Hübner, R.H. and Hinzmann, B. and Beer, H.J. and Wiggli, B. and Siemann, S. and Suttorp, N. and Witzenrath, M. and Hippenstiel, S. and Skurk, C. and Poller, W. and Sander, L.E. and Kurth, F. and Borodina, T. and Guettouche, T. and Landmesser, U. and Heidecker, B.
Journal of Cardiovascular Aging 2 (3): 33. 27 June 2022

Tongue immune compartment analysis reveals spatial macrophage heterogeneity.
Lyras, E.M. and Zimmermann, K. and Wagner, L.K. and Dörr, D. and Klose, C.S.N and Fischer, C. and Jung, S. and Yona, S. and Hovav, A.H. and Stenzel, W. and Dommerich, S. and Conrad, T. and Leutz, A. and Mildner, A.
eLife 11 : 77490. 24 June 2022

Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance.
Schlautmann, L.P. and Lackmann, J.W. and Altmüller, J. and Dieterich, C. and Boehm, V. and Gehring, N.H.
Nucleic Acids Research 50 (10): 5899-5918. 10 June 2022

Single cell‐ and spatial 'omics revolutionize physiology.
Conrad, T. and Altmüller, J.
Acta Physiologica : e13848. 2 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. and Erger, F. and Walsh, P.R. and McNicholas, B. and Fistrek, M. and Habbig, S. and Schumacher, L. and Folz-Donahue, K. and Kukat, C. and Toliat, M.R. and Becker, C. and Thiele, H. and Kavanagh, D. and Nürnberg, P. and Beck, B. and Altmüller, J.
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. and Escobar, H. and Sunaga-Franze, D.Y. and Sauer, S. and Diecke, S. and Spuler, S.
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. and Sheffer, R. and Daana, M. and Li, Y. and Kaygusuz, E. and Mor-Shakad, H. and Altmüller, J. and Nürnberg, P. and Douiev, L. and Kaulfuss, S. and Burfeind, P. and Wollnik, B. and Brockmann, K.
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. and Lackmann, J.W. and Kueckelmann, S. and Altmüller, J. and Dieterich, C. and Boehm, V. and Gehring, N.H.
EMBO Journal 41 (10): e109191. 16 May 2022

RNA modification mapping with JACUSA2.
Piechotta, M. and Naarmann-de Vries, I.S. and Wang, Q. and Altmüller, J. and Dieterich, C.
Genome Biology 23 (1): 115. 16 May 2022

Noncanonical function of AGO2 augments T-cell receptor signaling in T-cell prolymphocytic leukemia.
Braun, T. and Stachelscheid, J. and Bley, N. and Oberbeck, S. and Otte, M. and Müller, T.A. and Wahnschaffe, L. and Glaß, M. and Ommer, K. and Franitza, M. and Gathof, B. and Altmüller, J. and Hallek, M. and Auguin, D. and Hüttelmaier, S. and 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. and Zech, M. and Hempel, M. and Altmüller, J. and Heung, T. and Pölsler, L. and Santer, R. and Thiele, H. and Trost, B. and Kubisch, C. and Scherer, S.W. and Rudnik-Schöneborn, S. and Bassett, A.S. and Lessel, D.
European Journal of Human Genetics 30 (5): 611-618. May 2022

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc, I.I. and Elcioglu, N.H. and Martinez Grijalva, C. and Aras, S. and Großmann, N. and Praulich, I. and Altmüller, J. and Kaulfuß, S. and Li, Y. and Nürnberg, P. and Burfeind, P. and Yigit, G. 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. and Woestefeld, J. and Döpper, H. and Bozet, M. and Brenzel, A. and Altmüller, J. and Kilpert, F. and Lohmann, D. and Pommerenke, C. and Steenpass, L.
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. and Mocanu, I.D. and Abdullah, U. and Höhne, W. and Altmüller, J. and Makhdoom, E.U.H. and Thiele, H. and Baig, S.M. and Nürnberg, P. and Graul-Neumann, L. and Hussain, M.S.
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. and Himmerkus, N. and Meoli, L. and Fromm, A. and Sewerin, S. and Kriuchkova, N. and Nagel, O. and Ladilov, Y. and Krug, S. and Quintanova, C. and Stumpp, M. and Garbe-Schönberg, D. and Westernströer, U. and Merkel, C. and Brinkhus, M. and Altmüller, J. and Schweiger, M. and Mueller, D. and Mutig, K. and Morawski, M. and Halbritter, J. and Milatz, S. and Bleich, M. and Günzel, D.
Journal of the American Society of Nephrology 33 (4): 699-717. April 2022

Association of ultra-rare coding variants with genetic generalized epilepsy: a case-control whole exome sequencing study.
Koko, M. and Motelow, J.E. and Stanley, K.E. and Bobbili, D.R. and Dhindsa, R.S. and May, P.
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. and Hornig, N.C. and Betz, R.C. and Holterhus, P.M. and Altmüller, J. and Thiele, H. and Fabiano, M. and Schweikert, H.U. and Braun, D. and Schweizer, U.
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. and Harter, P. and Ernst, C. and Burges, A. and Schmidt, S. and Reuss, A. and Borde, J. and De Gregorio, N. and Dietrich, D. and El-Balat, A. and Kayali, M. and Gevensleben, H. and Hilpert, F. and Altmüller, J. and Heimbach, A. and Meier, W. and Schoemig-Markiefka, B. and Thiele, H. and Kimmig, R. and Nürnberg, P. and Kast, K. and Richters, L. and Sehouli, J. and Schmutzler, R.K. and Hahnen, E.
Journal of Medical Genetics 59 (3): 248-252. March 2022

MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Reusch, B. and Bartram, M.P. and Dafinger, C. and Palacio-Escat, N. and Wenzel, A. and Fenton, R.A. and Saez-Rodriguez, J. and Schermer, B. and Benzing, T. and Altmüller, J. and 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. and Roth, O. and Nolte, A.W. and Schüller, A. and Spanke, T. and Flury, J.M. and Utama, I.V. and Altmüller, J. and Wowor, D. and Misof, B. and Herder, F. and 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. and Schreiber, G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Li, Y. and Kaulfuß, S. and Funke, R. and Wilken, B. and Yigit, G. and Wollnik, B.
European Journal of Human Genetics 30 (2): 211-218. February 2022

Genomic basis of syndromic short stature in an Algerian patient cohort.
Moosa, S. and Chentli, F. and Altmüller, J. and Bögershausen, N. and Nürnberg, P. and Yigit, G. and 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. and Halasz, L. and Medina-Serpas, M.A. and Berger, W.K. and Daniel, B. and Tzerpos, P. and Kiss, M. and Nagy, G. and Fischer, C. and Simandi, Z. and Varga, T. and Nagy, L.
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. and Rading, K. and Campbell, S.E. and Thiele, H. and Altmüller, J. and 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. and Glass, M. and Wahnschaffe, L. and Otte, M. and Mayer, P. and Franitza, M. and Altmüller, J. and Hallek, M. and Hüttelmaier, S. and 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. and Ast, D.F. and Tumbrink, H.L. and Abedpour, N. and Maas, L. and Schwäbe, A.E. and Spille, I. and Lennartz, S. and Fassunke, J. and Aldea, M. and Besse, B. and Planchard, D. and Nogova, L. and Michels, S. and Kobe, C. and Persigehl, T. and Westphal, T. and Koleczko, S. and Fischer, R. and Weber, J.P. and Altmüller, J. and Thomas, R.K. and Merkelbach-Bruse, S. and Gautschi, O. and Mezquita, L. and Büttner, R. and Wolf, J. and Peifer, M. and Brägelmann, J. and Scheffler, M. and Sos, M.L.
npj Precision Oncology 5 (1): 102. 17 December 2021

Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt, J. and Goergens, J. and Pochechueva, T. and Kotter, A. and Schwenzer, N. and Sitte, M. and Werner, G. and Altmueller, J. and Thiele, H. and Nürnberg, P. and Isensee, J. and Li, Y. and Müller, C. and Leube, B. and Reinhardt, H.C. and Hucho, T. and Salinas, G. and Helm, M. and Jachimowicz, R.D. and Wieczorek, D. and Kohl, T. and Lehnart, S.E. and 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. and Bartenhagen, C. and Welte, A. and Kahlert, Y. and Hemstedt, N. and Lorenz, W. and Cartolano, M. and Ackermann, S. and Perner, S. and Vogel, W. and Altmüller, J. and Nürnberg, P. and Hertwig, F. and Göhring, G. and Lilienweiss, E. and Stütz, A.M. and Korbel, J.O. and Thomas, R.K. and Peifer, M. and Fischer, M.
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. and Keilwagen, J. and Hoff, K.J. and Steffen, R. and Altmüller, J. and 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. and Peters, S. and Cartolano, M. and Horpaopan, S. and Grimm, C. and Altmüller, J. and Sommer, A.K. and Hillmer, A.M. and Thiele, H. and Odenthal, M. and Möslein, G. and Adam, R. and Sivalingam, S. and Kirfel, J. and Schweiger, M.R. and Peifer, M. and Spier, I. and Aretz, S.
PLoS ONE 16 (11): e0259185. 29 November 2021

Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and aging.
Freitag, K. and Eede, P. and Ivanov, A. and Schneeberger, S. and Borodina, T. and Sauer, S. and Beule, D. and Heppner, F.L.
bioRxiv : 2021.08.02.454573v1. 28 November 2021

R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage.
Chatzidoukaki, O. and Stratigi, K. and Goulielmaki, E. and Niotis, G. and Akalestou-Clocher, A. and Gkirtzimanaki, K. and Zafeiropoulos, A. and Altmüller, J. and 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. and Knoll, R. and Bonaguro, L. and ToVinh, M. and Raabe, J. and Astaburuaga-García, R. and Schulte-Schrepping, J. and Kaiser, K.M. and Rieke, G.J. and Bischoff, J. and Monin, M.B. and Hoffmeister, C. and Schlabe, S. and De Domenico, E. and Reusch, N. and Händler, K. and Reynolds, G. and Blüthgen, N. and Hack, G. and Finnemann, C. and Nischalke, H.D. and Strassburg, C.P. and Stephenson, E. and Su, Y. and Gardner, L. and Yuan, D. and Chen, D. and Goldman, J. and Rosenstiel, P. and Schmidt, S.V. and Latz, E. and Hrusovsky, K. and Ball, A.J. and Johnson, J.M. and Koenig, P.A. and Schmidt, F.I. and Haniffa, M. and Heath, J.R. and Kümmerer, B.M. and Keitel, V. and Jensen, B. and Stubbemann, P. and Kurth, F. and Sander, L.E. and Sawitzki, B. and Aschenbrenner, A.C. and 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. and Altmüller, J. and Naarmann-de Vries, I.S. and Dieterich, C.
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. and Maroofian, R. and Çavdarlı, B. and Riccardi, F. and Field, M. and Banka, S. and Bubshait, D.K. and Li, Y. and Hertecant, J. and Baig, S.M. and Dyment, D. and Efthymiou, S. and Abdullah, U. and Makhdoom, E.U.H. and Ali, Z. and Scherf de Almeida, T and Molinari, F. and Mignon-Ravix, C. and Chabrol, B. and Antony, J. and Ades, L. and Pagnamenta, A.T. and Jackson, A. and Douzgou, S. and Beetz, C. and Karageorgou, V. and Vona, B. and Rad, A. and Baig, J.M. and Sultan, T. and Alvi, J.R. and Maqbool, S. and Rahman, F. and Toosi, M.B. and Ashrafzadeh, F. and Imannezhad, S. and Karimiani, E.G. and Sarwar, Y. and Khan, S. and Jameel, M. and Noegel, A.A. and Budde, B. and Altmüller, J. and Motameny, S. and Höhne, W. and Houlden, H. and Nürnberg, P. and Wollnik, B. and Villard, L. and Alkuraya, F.S. and Osmond, M. and Hussain, M.S. and Yigit, G.
Genetics in Medicine 23 (11): 2138-2149. November 2021

mTOR-activating mutations in RRAGD are causative for kidney tubulopathy and cardiomyopathy.
Schlingmann, K.P. and Jouret, F. and Shen, K. and Nigam, A. and Arjona, F. and Dafinger, C. and Houillier, P. and Jones, D. and Kleinerüschkamp, F. and Oh, J. and Godefroid, N. and Eltan, M. and Güran, T. and Burtey, S. and Parotte, M.C. and König, J. and Braun, A. and Bos, C. and Serra, M.I. and Rehmann, H. and Zwartkruis, F. and Renkema, K. and Klingel, K. and Schulze-Bahr, E. and Schermer, B. and Bergmann, C. and Altmüller, J. and Thiele, H. and Beck, B. and Dahan, K. and Sabatini, D. and Liebau, M. and Vargas-Poussou, R. and Knoers, N. and Konrad, M. and de Baaij, J.
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. and Übelmesser, N. and Josipovic, N. and Forte, G. and Slotman, J.A. and Chiang, M. and Gothe, H.J. and Gusmao, E.G. and Becker, C. and Altmüller, J. and Houtsmuller, A.B. and Roukos, V. and Wendt, K.S. and 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. and Mammadova, L. and Cirillo, M. and Drees, E.E.E. and Mattlener, J. and Dörr, H. and Altmüller, J. and Shi, Z. and Bröckelmann, P.J. and Weiss, J. and Kreissl, S. and Sasse, S. and Ullrich, R.T. and Reinke, S. and Klapper, W. and Gerhard-Hartmann, E. and Rosenwald, A. and Roemer, M.G.M. and Nürnberg, P. and Hagenbeek, A. and Zijlstra, J.M. and Pegtel, D.M. and Engert, A. and Borchmann, P. and von Tresckow, B. and Borchmann, S.
Med 2 (10): 1171-1193. 8 October 2021

A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family.
Waseem, S.S. and Moawia, A. and Budde, B. and Tariq, M. and Khan, A. and Ali, Z. and Khan, S. and Iqbal, M. and Malik, N.A. and Haque, S.U. and Altmüller, J. and Thiele, H. and Hussain, M.S. and Cirak, S. and Baig, S.M. and Nürnberg, P.
Genes 12 (10): 1494. October 2021

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

Human brain organoids assemble functionally integrated bilateral optic vesicles.
Gabriel, E. and Albanna, W. and Pasquini, Gi. and Ramani, A. and Josipovic, N. and Mariappan, A. and Schinzel, F. and Karch, C.M. and Bao, G. and Gottardo, M. and Suren, A.A. and Hescheler, J. and Nagel-Wolfrum, K. and Persico, V. and Rizzoli, S.O. and Altmüller, J. and Riparbelli, M.G. and Callaini, G. and Goureau, O. and Papantonis, A. and Busskamp, V. and Schneider, T. 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. and Suwalski, P. and Holtgrewe, M. and Rakitko, A. and Thibeault, C. and Müller, M. and Patriki, D. and Quedenau, C. and Krüger, U. and Ilinsky, V. and Popov, I. and Balnis, J. and Jaitovich, A. and Helbig, E.T. and Lippert, L.J. and Stubbemann, P. and Real, L.M. and Macías, J. and Pineda, J.A. and Fernandez-Fuertes, M. and Wang, X. and Karadeniz, Z. and Saccomanno, J. and Doehn, J.M. and Hübner, R.H. and Hinzmann, B. and Salvo, M. and Blueher, A. and Siemann, S. and Jurisic, S. and Beer, J.H. and Rutishauser, J. and Wiggli, B. and Schmid, H. and Danninger, K. and Binder, R. and Corman, V.M. and Mühlemann, B. and Arjun Arkal, R. and Fragiadakis, G.K. and Mick, E. and Calfee, C.S. and Erle, D.J. and Hendrickson, C.M. and Kangelaris, K.N. and Krummel, M.F. and Woodruff, P.G. and Langelier, C.R. and Venkataramani, U. and García, F. and Zyla, J. and Drosten, C. and Braun, A. and Jones, T.C. and Suttorp, N. and Witzenrath, M. and Hippenstiel, S. and Zemojtel, T. and Skurk, C. and Wolfgang, P. and Borodina, T. and Ripke, S. and Sander, L.E. and Beule, D. and Landmesser, U. and Guettouche, T. and 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. and Yigit, G. and Martínez Grijalva, C. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Elcioglu, N.H. and Yeter, B. and Hehr, U. and Stein, A. and Della Marina, A. and Köninger, A. and Depienne, C. and Kaiser, F.J. and 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. and Holzer, T. and Nolte, J.L. and Krüger, M. and Wilson, R. and Schlötzer-Schrehardt, U. and Brinckmann, J. and Altmüller, J. and Aszodi, A. and Fleischhauer, L. and Clausen-Schaumann, H. and Probst, K. and Brachvogel, B.
Journal of Biological Chemistry 297 (4): 101224. October 2021

Altered DNA methylation profiles in SF3B1 mutated CLL patients.
Pacholewska, A. and Grimm, C. and Herling, C.D. and Lienhard, M. and Königs, A. and Timmermann, B. and Altmüller, J. and Mücke, O. and Reinhardt, H.C. and Plass, C. and Herwig, R. and 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. and Yahia, A. and Elsayed, L.E. and Hamed, A.A. and Mohammed, I.N. and Elseed, M.A. and Hamad, M.H.A. and Babai, A.M. and Siddig, R.A. and Abd Allah, A.S.I. and Mohamed, M. and El-Amin, M. and Esteves, T. and Altmüller, J. and Toliat, M.R. and Thiele, H. and Nürnberg, P. and Salih, M.A. and Ahmed, A.E. and 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. and Hinze, C. and Boltengagen, A. and Braeuning, C. and Kocks, C. and Rajewsky, N. and Schmidt-Ott, K.M.
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. and Rosignoli, S. and Guo, L. and Vardanega, I. and Imani, J. and Altmüller, J. and Milner, S.G. and Balzano, R: and Nagel, K.A. and Pflugfelder, D. and Forestan, C. and Bovina, R. and Koller, R. and Stöcker, T.G. and Mascher, M. and Simmonds, J. and Uauy, C. and Schoof, H. and Tuberosa, R. and Salvi, S. and Hochholdinger, F.
Proceedings of the National Academy of Sciences of the United States of America 118 (35): e2101526118. 31 August 2021

Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance.
Schlautmann, L.P. and Boehm, V. and Lackmann, J.W. and Altmüller, J. and Dieterich, C. and Gehring, N.H.
bioRxiv : 2021.08.20.457088. 20 August 2021

Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
Theobald, S.J. and Simonis, A. and Georgomanolis, T. and Kreer, C. and Zehner, M. and Eisfeld, H.S. and Albert, M.C. and Chhen, J. and Motameny, S. and Erger, F. and Fischer, J. and Malin, J.J. and Gräb, J. and Winter, S. and Pouikli, A. and David, F. and Böll, B. and Koehler, P. and Vanshylla, K. and Gruell, H. and Suárez, I. and Hallek, M. and Fätkenheuer, G. and Jung, N. and Cornely, O.A. and Lehmann, C. and Tessarz, P. and Altmüller, J. and Nürnberg, P. and Kashkar, H. and Klein, F. and Koch, M. and Rybniker, J.
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. and Hedergott, A. and Preising, M. and Rading, S. and Fricke, J. and Herkenrath, P. and Nürnberg, P. and Altmüller, J. and von Ameln, S. and Lorenz, B. and Neugebauer, A. and Karsak, M. and Kubisch, C.
Human Genetics 140 (8): 1157-1168. August 2021

UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells.
Wallmeroth, D. and Boehm, V. and Lackmann, J.W. and Altmüller, J. and Dieterich, C. and Gehring, N.H.
bioRxiv : 2021.07.07.451444. 13 July 2021

Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis.
Brych, A. and Haas, F.B. and Parzefall, K. and Panzer, S. and Schermuly, J. and Altmüller, J. and Engelsdorf, T. and Terpitz, U. and Rensing, S.A. and 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. and Gruber, R. and Brennan, L. and Marriott, A. and Plank, R. and Moosbrugger-Martinz, V. and Blunder, S. and Schossig, A. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Zschocke, J. and Hennies, H.C. 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. and Miroshnikova, Y.A. and Ghatak, S. and Chacón-Martínez, C.A. and Morgner, J. and Li, X. and Atanassov, I. and Altmüller, J. and Birk, D.E. and Koch, M. and Bloch, W. and Bartusel, M. and Niessen, C.M. and Rada-Iglesias, A. and Wickström, S.A.
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. and Schommers, P. and Stecher, M. and Dewald, F. and Gieselmann, L. and Gruell, H. and Horn, C. and Vanshylla, K. and Cristanziano, V.D. and Osebold, L. and Roventa, M. and Riaz, T. and Tschernoster, N. and Altmueller, J. and Rose, L. and Salomon, S. and Priesner, V. and Luers, J.C. and Albus, C. and Rosenkranz, S. and Gathof, B. and Fätkenheuer, G. and Hallek, M. and Klein, F. and Suárez, I. and Lehmann, C.
The Lancet Regional Health - Europe 6 : 100122. July 2021

Single cell transcriptome sequencing on the Nanopore platform with ScNapBar.
Wang, Q. and Boenigk, S. and Boehm, V. and Gehring, N.H. and Altmueller, J. and Dieterich, C.
RNA 27 (7): 763-770. July 2021

SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
Boehm, V. and Kueckelmann, S. and Gerbracht, J.V. and Kallabis, S. and Britto-Borges, T. and Altmüller, J. and Krüger, M. and Dieterich, C. and Gehring, N.H.
Nature Communications 12 (1): 3965. 25 June 2021

Swarm Learning for decentralized and confidential clinical machine learning.
Warnat-Herresthal, S. and Schultze, H. and Shastry, K.L. and Manamohan, S. and Mukherjee, S. and Garg, V. and Sarveswara, R. and Händler, K. and Pickkers, P. and Aziz, N.A. and Ktena, S. and Tran, F. and Bitzer, M. and Ossowski, S. and Casadei, N. and Herr, C. and Petersheim, D. and Behrends, U. and Kern, F. and Fehlmann, T. and Schommers, P. and Lehmann, C. and Augustin, M. and Rybniker, J. and Altmüller, J. and Mishra, N. and Bernardes, J.P. and Krämer, B. and Bonaguro, L. and Schulte-Schrepping, J. and De Domenico, E. and Siever, C. and Kraut, M. and Desai, M. and Monnet, B. and Saridaki, M. and Siegel, C.M. and Drews, A. and Nuesch-Germano, M. and Theis, H. and Heyckendorf, J. and Schreiber, S. and Kim-Hellmuth, S. and Nattermann, J. and Skowasch, D. and Kurth, I. and Keller, A. and Bals, R. and Nürnberg, P. and Rieß, O. and Rosenstiel, P. and Netea, M.G. and Theis, F. and Mukherjee, S. and Backes, M. and Aschenbrenner, A.C. and Ulas, T. and Breteler, M.M.B. and Giamarellos-Bourboulis, E.J. and Kox, M. and Becker, M. and Cheran, S. and Woodacre, M.S. and 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. and Josipovic, N. and Nikolic, M. and Kargapolova, Y. and Übelmesser, N. and Varamogianni-Mamatsi, V. and Zirkel, A. and Papadionysiou, I. and Loughran, G. and Keane, J. and Michel, A. and Gusmao, E.G. and Becker, C. and Altmüller, J. and Georgomanolis, T. and Mizi, A. and Papantonis, A.
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. and Tsekrekou, M. and Batsiotos, N. and Ascensão-Ferreira, M. and Ledaki, E. and Stratigi, K. and Chatzinikolaou, G. and Topalis, P. and Kosteas, T. and Altmüller, J. and Demmers, J.A. and Barbosa-Morais, N.L. and Garinis, G.A.
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. and Rehimi, R. and Kayserili, H. and Brühl, J. and Sofiadis, K. and Zirkel, A. and Palikyras, S. and Mizi, A. and Li, Y. and Yigit, G. and Hoischen, A. and Frank, S. and Russ, N. and Trautwein, J. and van Bon, B. and Gilissen, C. and Laugsch, M. and Gusmao, E.G. and Josipovic, N. and Altmüller, J. and Nürnberg, P. and Längst, G. and Kaiser, F.J. and Watrin, E. and Brunner, H. and Rada-Iglesias, A. and Kurian, L. and Wollnik, B. and Bouazoune, K. and Papantonis, A.
Nature Communications 12 (1): 3014. 21 May 2021

Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler, H.S. and Akpulat, U. and Özdemir, Ö. and Yis, U. and Güngör, S. and Talim, B. and Diniz, G. and Baydan, F. and Thiele, H. and Altmüller, J. and 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. and Tschernoster, N. and Erger, F. and Hedergott, A. and Buescher, A.K. and Dafinger, C. and Reusch, B. and Köntges, V.K. and Kohl, S. and Bartram, M.P. and Weber, L.T. and Thiele, H. and Altmueller, J. and Schermer, B. and 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. and Fejjal, N. and Li, Y. and Thiele, H. and Altmüller, J. and Guaoua, S. and Nürnberg, P. and Wollnik, B. and 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. and Fischer, C. and Geisberger, S. and El-Heliebi, A. and Kroneis, T. and Forstner, D. and Desoye, G. and Staff, A.C. and Sugulle, M. and Dechend, R. and Pecks, U. and Kollmann, M. and Stern, C. and Cartwright, J.E. and Whitley, G.S. and Thilaganathan, B. and Wadsack, C. and Huppertz, B. and Herse, F. and Gauster, M.
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. and Waseem, S.S. and Iqbal, M. and Abdullah, U. and Hussain, G. and Asif, M. and Budde, B. and Höhne, W. and Tinschert, S. and Saadi, S.M. and Yousaf, H. and Ali, Z. and Fatima, A. and Kaygusuz, E. and Khan, A. and Jameel, M. and Khan, S. and Tariq, M. and Anjum, I. and Altmüller, J. and Thiele, H. and Höning, S. and Baig, S.M. and Nürnberg, P. and Hussain, M.S.
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. and Fogo, M.S. and Pinto, B.G.G. and Alves, A.Y. and Suzuki, A.M. and Morales, A.G. and Ezquina, S. and Sosa, O.J. and Sutton, G.J. and Sunaga-Franze, D.Y. and Bueno, A.P. and Seabra, G. and Sardinha, L. and Costa, S.S. and Rosenberg, C. and Zachi, E.C. and Sertie, A.L. and Martins-de-Souza, D. and Reis, E.M. and Voineagu, I. and Passos-Bueno, M.R.
Molecular Psychiatry 26 (5): 1589-1605. May 2021

The neuroinflammatory interleukin-12 signaling pathway drives Alzheimer's disease-like pathology by perturbing oligodendrocyte survival and neuronal homeostasis.
Schneeberger, S. and Kim, S.J. and Eede, P. and Boltengagen, A. and Braeuning, C. and Andreadou, M. and Becher, B. and Karaiskos, N. and Kocks, C. and Rajewsky, N. and Heppner, F.L.
bioRxiv : 2021.04.25.441313. 27 April 2021

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller, N. and Paketci, C. and Altmueller, J. and Fuhrmann, N. and Wunderlich, G. and Schrank, B. and Unver, O. and Yilmaz, S. and Boostani, R. and Karimiani, E.G. and Motameny, S. and Thiele, H. and Nürnberg, P. and Maroofian, R. and Yis, U. and Wirth, Br. and Karakaya, M.
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. and Yigit, G. and Altmüller, J. and Nürnberg, P. and Czeschik, J.C. and Wollnik, B. and Bögershausen, N. and Burfeind, P. and Wieczorek, D. and Kaiser, F. and Roos, A. and Kölbel, H. and Schara-Schmidt, U. and Kuechler, A.
American Journal of Medical Genetics A 185 (4): 1216-1221. April 2021

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. and Houwaart, T. and Finzer, P. and Ehlkes, L. and Tyshaieva, A. and Damagnez, M. and Strelow, D. and Duplessis, A. and Nicolai, J. and Wienemann, T. and Tamayo, T. and Kohns Vasconcelos, M. and Hülse, L. and Hoffmann, K. and Lübke, N. and Hauka, S. and Andree, M. and Däumer, M.P. and Thielen, A. and Kolbe-Busch, S. and Göbels, K. and Zotz, R. and Pfeffer, K. and Timm, J. and Dilthey, A.T.
Clinical Infectious Diseases 74 (6): 1039-1046. 15 March 2021

A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak, A. and Diegmann, S. and Dreha-Kulaczewski, S. and Wiśniewski, J. and Duda, P. and Ohlenbusch, A. and Huppke, B. and Henneke, M. and Höhne, W. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Rakus, D. and 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. and Filipów, S. and Ignarski, M. and Smieszek, M. and Chen, H. and Kühne, L. and Butt, L. and Göbel, H. and Hoyer-Allo, K.J.R. and Koehler, F.C. and Altmüller, J. and Brinkkötter, P. and Schermer, B. and Benzing, T. and Kann, M. and Müller, R.U. and Dieterich, C.
Cells 10 (3): 692. March 2021

MTBP phosphorylation controls DNA replication origin firing.
Ferreira, P. and Höfer, V. and Kronshage, N. and Marko, A. and Reusswig, K.U. and Tetik, B. and Dießel, C. and Köhler, K. and Tschernoster, N. and Altmüller, J. and Schulze, N. and Pfander, B. and Boos, D.
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. and Majmundar, A.J. and Khan, K. and Lim, T.Y. and Shril, S. and Jin, G. and Musgrove, J. and Wang, M. and Ahram, D.F. and Aggarwal, V.S. and Bier, L.E. and Heinzen, E.L. and Onuchic-Whitford, A.C. and Mann, N. and Buerger, F. and Schneider, R. and Deutsch, K. and Kitzler, T.M. and Klämbt, V. and Kolb, A. and Mao, Y. and Moufawad El Achkar, C. and Mitrotti, A. and Martino, J. and Beck, B.B. and Altmüller, J. and Benz, M.R. and Yano, S. and Mikati, M.A. and Gunduz, T. and Cope, H. and Shashi, V. and Trachtman, H. and Bodria, M. and Caridi, G. and Pisani, I. and Fiaccadori, E. and AbuMaziad, A.S. and Martinez-Agosto, J.A. and Yadin, O. and Zuckerman, J. and Kim, A. and John-Kroegel, U. and Tyndall, A.V. and Parboosingh, J.S. and Innes, A.M. and Bierzynska, A. and Koziell, A.B. and Muorah, M. and Saleem, M.A. and Hoefele, J. and Riedhammer, K.M. and Gharavi, A.G. and Jobanputra, V. and Pierce-Hoffman, E. and Seaby, E.G. and O'Donnell-Luria, A. and Rehm, H.L. and Mane, S. and D'Agati, V.D. and Pollak, M.R. and Ghiggeri, G.M. and Lifton, R.P. and Goldstein, D.B. and Davis, E.E. and 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. and Oram, A. and Gruber, R. and Plank, R. and Lingenhel, A. and Gupta, M.K. and Altmüller, J. and Nürnberg, P. and Schmuth, M. and Zschocke, J. and Šarić, T. and Eckl, K.M. and Hennies, H.C.
International Journal of Molecular Sciences 22 (4): 1785. 2 February 2021

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

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

Dissecting herpes simplex virus 1-induced host shutoff at the RNA level.
Friedel, C.C. and Whisnant, A.W. and Djakovic, L. and Rutkowski, A.J. and Friedl, M.S. and Kluge, M. and Williamson, J.C. and Sai, S. and Vidal, R.O. and Sauer, S. and Hennig, T. and Grothey, A. and Milić, A. and Prusty, B.K. and Lehner, P.J. and Matheson, N.J. and 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. and Kanageswaran, N. and Bouvain, P. and Scholz, P. and Altmüller, J. and Becker, C. and Gisselmann, G. and 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. and Rehkämper, T. and Nieper, P. and Pfeiffer, P. and Holzem, A. and Klein, S. and Bhatia, S. and Kochanek, M. and Kisis, I. and Pelzer, B.W. and Ahlert, H. and Hauer, J. and da Palma Guerreiro, A. and Ryan, J.A. and Reimann, M. and Riabinska, A. and Wiederstein, J. and Krüger, M. and Deckert, M. and Altmüller, J. and Klatt, A.R. and Frenzel, L.P. and Pasqualucci, L. and Béguelin, W. and Melnick, A.M. and Sander, S. and Montesinos-Rongen, M. and Brunn, A. and Lohneis, P. and Büttner, R. and Kashkar, H. and Borkhardt, A. and Letai, A. and Persigehl, T. and Peifer, M. and Schmitt, C.A. and 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. and Özdemir, Ö. and Kreutzer, M. and Motameny, S. and Thiele, H. and Kribs, A. and Dötsch, J. and Altmüller, J. and 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. and Pich, A. and Tamm, S. and Hedtfeld, S. and Ibrahim, M. and Altmüller, J. and Dalibor, N. and Toliat, M.R. and Janciauskiene, S. and 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. and Schrader, A. and Warner, K. and Jungherz, D. and Crispatzu, G. and von Jan, J. and Chmielewski, M. and Ianevski, A. and Diebner, H.H. and Mayer, P. and Kondo Ados, A. and Wahnschaffe, L. and Braun, T. and Müller, T.A. and Wagle, P. and Bouska, A. and Neumann, T. and Pützer, S. and Varghese, L. and Pflug, N. and Thelen, M. and Makalowski, J. and Riet, N. and Göx, H.J.M and Rappl, G. and Altmüller, J. and Kotrová, M. and Persigehl, T. and Hopfinger, G. and Hansmann, M.L. and Schlößer, H. and Stilgenbauer, S. and Dürig, J. and Mougiakakos, D. and von Bergwelt-Baildon, M. and Roeder, I. and Hartmann, S. and Hallek, M. and Moriggl, R. and Brüggemann, M. and Aittokallio, T. and Iqbal, J. and Newrzela, S. and Abken, H. 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. and Wieland, B. and Ohlenbusch, A. and Yigit, G. and Altmüller, J. and Boltshauser, E. and Dörk, T. and Brockmann, K.
American Journal of Medical Genetics A 182 (12): 2971-2975. December 2020

Single-nuclei RNA-sequencing of plants.
Sunaga-Franze, D.Y. and Muino, J.M. and Braeuning, C. and Xu, X. and Zong, M. and Smaczniak, C. and Yan, W. and Fischer, C. and Vidal, R. and Kliem, M. and Kaufmann, K. and Sauer, S.
bioRxiv : 2020.11.14.382812. 16 November 2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R. and Berger, H. and Till, K. and Salinas, G. and Sturm, M. and Altmüller, J. and Nürnberg, P. and Thiele, H. and Funke, R. and Apeshiotis, N. and Langen, H. and Wollnik, B. and Borchers, A. and Pauli, S.
Human Genetics 139 (11): 1363-1379. November 2020

Determination of primary microRNA processing in clinical samples by targeted pri-miR-sequencing.
Conrad, T. and Ntini, E. and Lang, B. and Cozzuto, L. and Andersen, J.B. and Marquardt, J.U. and Ponomarenko, J. and 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. and Torrinhas, R.S.M.M. and Fonseca, D.C. and Machado, N.M. and Singer, J. and Singer, P. and Ravacci, G.R. and Belarmino, G. and Ferreira, B.A.M. and Marques, M. and Ishida, R.K. and Guarda, I.F.M.S. and de Moura, E.G.H. and Sakai, P. and Santo, M.A. and Sunaga, D.Y. and Heymsfield, S.B. and Bezerra, D.P.D.S. and Corrêa-Giannella, M.L. and Waitzberg, D.L.
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. and Li, D. and Nair, D. and Alaimo, J.T. and Alders, M. and Altmüller, J. and Barakat, T.S. and Bebin, E.M. and Bertsch, N.L. and Blackburn, P.R. and Blesson, A. and Bouman, A.M. and Brockmann, K. and Brunelle, P. and Burmeister, M. and Cooper, G.M. and Denecke, J. and Dieux-Coëslier, A. and Dubbs, H. and Ferrer, A. and Gal, D. and Bartik, L.E. and Gunderson, L.B. and Hasadsri, L. and Jain, M. and Karimov, C. and Keena, B. and Klee, E.W. and Kloth, K. and Lace, B. and Macchiaiolo, M. and Marcadier, J.L. and Milunsky, J.M. and Napier, M.P. and Ortiz-Gonzalez, X.R. and Pichurin, P.N. and Pinner, J. and Powis, Z. and Prasad, C. and Radio, F.C. and Rasmussen, K.J. and Renaud, D.L. and Rush, E.T. and Saunders, C. and Selcen, D. and Seman, A.R. and Shinde, D.N. and Smith, E.D. and Smol, T. and Snijders Blok, L. and Stoler, J.M. and Tang, S. and Tartaglia, M. and Thompson, M.L. and van de Kamp, J.M. and Wang, J. and Weise, D. and Weiss, K. and Woitschach, R. and Wollnik, B. and Yan, H. and Zackai, E.H. and Zampino, G. and Campeau, P. 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. and Brunn, A. and Tuchscherer, A. and Borchmann, P. and Schorb, E. and Kasenda, B. and Altmüller, J. and Illerhaus, G. and Ruge, M.I. and Maarouf, M. and Büttner, R. and Hansmann, M.L. and Hallek, M. and Prinz, M. and 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. and Erger, F. and Skerka, C. and Wenzel, A. and Tschernoster, N. and Ehren, R. and Burgmaier, K. and Riehmer, V. and Licht, C. and Kirschfink, M. and Weber, L.T. and Altmueller, J. and 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. and Alonso, G. and Georgana, I. and El-Jesr, M. and Martín, R. and Shair, K.H.Y. and Fischer, C. and Sauer, S. and Maluquer de Motes, C. and Alcamí, A.
Science Advances 6 (38): eabb4565. 18 September 2020

Intronic CRISPR repair in a preclinical model of Noonan syndrome-associated cardiomyopathy.
Hanses, U. and Kleinsorge, M. and Roos, L. and Yigit, G. and Li, Y. and Barbarics, B. and El-Battrawy, I. and Lan, H. and Tiburcy, M. and Hindmarsh, R. and Lenz, C. and Salinas, G. and Diecke, S. and Müller, C. and Adham, I. and Altmüller, J. and Nürnberg, P. and Paul, T. and Zimmermann, W.H. and Hasenfuss, G. and 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. and Kuske, A. and Joosse, S.A. and Yigit, G. and Sflomos, G. and Thaler, S. and Smit, D.J. and Werner, S. and Borgmann, K. and Gärtner, S. and Mossahebi Mohammadi, P. and Battista, L. and Cayrefourcq, L. and Altmüller, J. and Salinas-Riester, G. and Raithatha, K. and Zibat, A. and Goy, Y. and Ott, L. and Bartkowiak, K. and Tan, T.Z. and Zhou, Q. and Speicher, M.R. and Müller, V. and Gorges, T.M. and Jücker, M. and Thiery, J.P. and Brisken, C. and Riethdorf, S. and Alix-Panabières, C. and Pantel, K.
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. and Boehm, V. and Britto-Borges, T. and Kallabis, S. and Wiederstein, J.L. and Ciriello, S. and Aschemeier, D.U. and Krüger, M. and Frese, C.K. and Altmüller, J. and Dieterich, C. and Gehring, N.H.
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. and Shang, F. and Wang, X. and Fanti, A.K. and Greco, A. and Busch, K. and Klapproth, K. and Zhang, Q. and Quedenau, C. and Sauer, S. and Feyerabend, T.B. and 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. and Alawi, M. and Krause, L. and Renner, S. and Spohn, M. and Busch, Al. and Kolbe, V. and Altmüller, J. and Löscher, B.S. and Franke, A. and Brockmann, C. and Lieb, W. and Westphal, M. and Schmidt, N.O. and Regelsberger, J. and Rosenberger, G.
Journal of Neurology 267 (9): 2533-2545. September 2020

Maximizing transcription of nucleic acids with efficient T7 promoters.
Conrad, T. and Plumbom, I. and Alcobendas, M. and Vidal, R. and Sauer, S.
Communications Biology 3 (1): 439. 14 August 2020

MCH neurons regulate permeability of the median eminence barrier.
Jiang, H. and Gallet, S. and Klemm, P. and Scholl, P. and Folz-Donahue, K. and Altmüller, J. and Alber, J. and Heilinger, C. and Kukat, C. and Loyens, A. and Müller-Fielitz, H. and Sundaram, S. and Schwaninger, M. and 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. and Humbatova, A. and Liu, Y. and Qin, W. and Lee, M. and Cesarato, N. and Kortüm, F. and Kumar, S. and Romano, M.T. and Dai, S. and Mo, R. and Sivalingam, S. and Motameny, S. and Wu, Y. and Wang, X. and Niu, X. and Geng, S. and Bornholdt, D. and Kroisel, P.M. and Tadini, G. and Walter, S.D. and Hauck, F. and Girisha, K.M. and Calza, A.M. and Bottani, A. and Altmüller, J. and Buness, A. and Yang, S. and Sun, X. and Ma, L. and Kutsche, K. and Grzeschik, K.H. and 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. and Aly, M.A. and Mohamed, M.R. and Breß, A. and Altmüller, J. and Motameny, S. and Kawalia, A. and Thiele, H. and Konrad, K. and Becker, C. and Toliat, M.R. and Nürnberg, G. and Sayed, E.A.F. and Mohamed, E.S. and Pfister, M. and Nürnberg, P.
Clinical Genetics 98 (1): 32-42. July 2020

cfNOMe - a single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger, F. and Nörling, D. and Borchert, D. and Leenen, E. and Habbig, S. and Wiesener, M.S. and Bartram, M.P. and Wenzel, A. and Becker, C. and Toliat, M.R. and Nürnberg, P. and Beck, B.B. and Altmüller, J.
Genome Medicine 12 (1): 54. 24 June 2020

Benchmarking single-cell RNA-sequencing protocols for cell atlas projects.
Mereu, E. and Lafzi, A. and Moutinho, C. and Ziegenhain, C. and McCarthy, D.J. and Álvarez-Varela, A. and Batlle, E. and Sagar, and Grün, D. and Lau, J.K. and Boutet, S.C. and Sanada, C. and Ooi, A. and Jones, R.C. and Kaihara, K. and Brampton, C. and Talaga, Y. and Sasagawa, Y. and Tanaka, K. and Hayashi, T. and Braeuning, C. and Fischer, C. and Sauer, S. and Trefzer, T. and Conrad, C. and Adiconis, X. and Nguyen, L.T. and Regev, A. and Levin, J.Z. and Parekh, S. and Janjic, A. and Wange, L.E. and Bagnoli, J.W. and Enard, W. and Gut, M. and Sandberg, R. and Nikaido, I. and Gut, I. and Stegle, O. and Heyn, H.
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. and Plum, P.S. and Velazquez Camacho, O. and Folz-Donahue, K. and Thelen, M. and Garcia-Marquez, I. and Wölwer, C. and Büsker, S. and Wittig, J. and Franitza, M. and Altmüller, J. and Löser, H. and Schlößer, H. and Büttner, R. and Schröder, W. and Bruns, C.J. and Alakus, H. and Quaas, A. and Chon, S.H. and Hillmer, A.M.
Molecular Oncology 14 (6): 1170-1184. June 2020

Dissecting HSV-1-induced host shut-off at RNA level.
Friedel, C.C. and Whisnant, A.W. and Djakovic, L. and Rutkowski, A.J. and Friedl, M.S. and Kluge, M. and Williamson, J.C. and Sai, S. and Oliveira Vidal, R. and Sauer, S. and Hennig, T. and Prusty, B. and Lehner, P.J. and Matheson, N.J. and Erhard, F. and Dölken, L.
bioRxiv : 2020.05.20.106039. 20 May 2020

Single cell RNA-sequencing-based analysis of CD4(+) T-cell subset-specific susceptibility to transcriptional modulation by HIV-1 latency-reversing agents.
Kazmierski, J. and Postmus, D. and Wyler, E. and Fischer, C. and Jansen, J. and Meixenberger, K. and Vitcetz, S.N. and Sohn, M. and Sauer, S. and Bannert, N. and Landthaler, M. and Goffinet, C.
bioRxiv : 2020.05.04.075119. 5 May 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. and Hauke, J. and Loibl, S. and Möbus, V. and Denkert, C. and Fasching, P.A. and Kayali, M. and Ernst, C. and Weber-Lassalle, N. and Hanusch, C. and Tesch, H. and Müller, V. and Altmüller, J. and Thiele, H. and Untch, M. and Lübbe, K. and Nürnberg, P. and Rhiem, K. and Furlanetto, J. and Lederer, B. and Jackisch, C. and Nekljudova, V. and Schmutzler, R.K. and 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. and Cieslak, A. and Bernhart, S.H. and Toprak, U.H. and Wagener, R. and López, C. and Wiehle, L. and Bens, S. and Altmüller, J. and Franitza, M. and Scholz, I. and Jayne, S. and Ahearne, M.J. and Scheffold, A. and Jebaraj, B.M.C. and Schneider, C. and Costa, D. and Braun, T. and Schrader, A. and Campo, E. and Dyer, M.J.S. and Nürnberg, P. and Dürig, J. and Johansson, P. and Böttcher, S. and Schlesner, M. and Herling, M. and Stilgenbauer, S. and 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. and Kubacki, T. and Yeroslaviz, A. and Späth, M.R. and Mörsdorf, J. and Göbel, H. and Bohl, K. and Ignarski, M. and Meharg, C. and Habermann, B. and Altmüller, J. and Beyer, A. and Benzing, T. and Schermer, B. and Burst, V. and Müller, R.U.
Journal of the American Society of Nephrology 31 (4): 716-730. April 2020

Resolving fate and transcriptome of hematopoietic stem cell clones.
Pei, W. and Shang, F. and Wang, X. and Fanti, A.K. and Greco, A. and Busch, K. and Klapproth, K. and Zhang, Q. and Quedenau, C. and Sauer, S. and Feyerabend, T.B. and Höfer, T. and Rodewald, H.R.
bioRxiv : 2020.03.25.008433. 26 March 2020

The genomic and clinical landscape of fetal akinesia.
Pergande, M. and Motameny, S. and Özdemir, Ö. and Kreutzer, M. and Wang, H. and Daimagüler, H.S. and Becker, K. and Karakaya, M. and Ehrhardt, H. and Elcioglu, N. and Ostojic, S. and Chao, C.M. and Kawalia, A. and Duman, Ö. and Koy, A. and Hahn, A. and Reimann, J. and Schoner, K. and Schänzer, A. and Westhoff, J.H. and Schwaibold, E.M.C. and Cossee, M. and Imbert-Bouteille, M. and von Pein, H. and Haliloglu, G. and Topaloglu, H. and Altmüller, J. and Nürnberg, P. and Thiele, H. and Heller, R. and Cirak, S.
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. and Saida, K. and DeMarzo, D. and Miyake, N. and Fujita, A. and Yang Tan, T. and White, S.M. and Wadley, A. and Toliat, M.R. and Motameny, S. and Franitza, M. and Stutterd, C.A. and Chong, P.F. and Kira, R. and Sengoku, T. and Ogata, K. and Guillen Sacoto, M.J. and Fresen, C. and Beck, B.B. and Nürnberg, P. and Dieterich, C. and Wollnik, B. and Matsumoto, N. and Altmüller, J.
Human Mutation 41 (3): 591-599. March 2020

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M. and Fischer, C. and Urzi, A. and Vidal, R. and Kunz, S. and Ruffault, P.L. and Kabuss, L. and Hube, I. and Gazzerro, E. and Birchmeier, C. and Spuler, S. and Sauer, S. and Gouti, M.
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. and Funke, R. and Wilken, B. and Knaus, A. and Altmüller, J. and Nürnberg, P. and Li, Y. and Wollnik, B. and 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. and Ioannidou, A. and Tsekrekou, M. and Stratigi, K. and Poutakidou, I.K. and Gkirtzimanaki, K. and Aivaliotis, M. and Evangelou, K. and Topalis, P. and Altmüller, J. and Gorgoulis, V.G. and Chatzinikolaou, G. and Garinis, G.A.
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. and Markova, M. and Weber, D. and Sucher, S. and Hornemann, S. and Rudovich, N. and Raila, J. and Sunaga-Franze, D. and Sauer, S. and Rohn, S. and 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. and Jurastow, I. and Nandigama, R. and Appenzeller, S. and Li, L. and Vogel, J. and Wiederhold, S. and Althaus, M. and Empting, M. and Altmüller, J. and Hirsch, A.K.H. and Flockerzi, V. and Canning, B.J. and 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. and Herbert, D. and Lange, M. and Beuerlein, K. and Altmüller, J. and Becker, A.
Plant Methods 15 : 151. 16 December 2019

Transcriptional heterogeneity of fibroblasts is a hallmark of the aging heart.
Vidal, R. and Wagner, J.U.G. and Braeuning, C. and Fischer, C. and Patrick, R. and Tombor, L. and Muhly-Reinholz, M. and John, D. and Kliem, M. and Conrad, T. and Guimarães-Camboa, N. and Harvey, R. and Dimmeler, S. and Sauer, S.
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. and Frank, D. and Shoemark, A. and Nöthe-Menchen, T. and Cindric, S. and Olbrich, H. and Loges, N.T. and Aprea, I. and Dougherty, G.W. and Pennekamp, P. and Kaiser, T. and Mitchison, H.M. and Hogg, C. and Carr, S.B. and Zariwala, M.A. and Ferkol, T. and Leigh, M.W. and Davis, S.D. and Atkinson, J. and Dutcher, S.K. and Knowles, M.R. and Thiele, H. and Altmüller, J. and Krenz, H. and Wöste, M. and Brentrup, A. and Ahrens, F. and Vogelberg, C. and 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. and May, P. and Artomov, M. and Kobow, K. and Coras, R. and Pérez-Palma, E. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Leu, C. and Palotie, A. and Daly, M.J. and Klein, K.M. and Beschorner, R. and Weber, Y.G. and 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. and Kraft, F. and Leitão, E. and Kaya, S. and Klebe, S. and Magnin, E. and van Rootselaar, A.F. and Buratti, J. and Kühnel, T. and Schröder, C. and Giesselmann, S. and Tschernoster, N. and Altmüller, J. and Lamiral, A. and Keren, B. and Nava, C. and Bouteiller, D. and Forlani, S. and Jornea, L. and Kubica, R. and Ye, T. and Plassard, D. and Jost, B. and Meyer, V. and Deleuze, J.F. and Delpu, Y. and Avarello, M.D.M. and Vijfhuizen, L.S. and Rudolf, G. and Hirsch, E. and Kroes, T. and Reif, P.S. and Rosenow, F. and Ganos, C. and Vidailhet, M. and Thivard, L. and Mathieu, A. and Bourgeron, T. and Kurth, I. and Rafehi, H. and Steenpass, L. and Horsthemke, B. and LeGuern, E. and Klein, K.M. and Labauge, P. and Bennett, M.F. and Bahlo, M. and Gecz, J. and Corbett, M.A. and Tijssen, M.A.J and van den Maagdenberg, A.M.J.M. and Depienne, C.
Nature Communications 10 (1): 4919. 29 October 2019

Autosomal-recessive mutations in MESD cause osteogenesis imperfecta.
Moosa, S. and Yamamoto, G.L. and Garbes, L. and Keupp, K. and Beleza-Meireles, A. and Moreno, C.A. and Valadares, E.R. and de Sousa, S.B. and Maia, S. and Saraiva, J. and Honjo, R.S. and Kim, C.A. and Cabral de Menezes, H. and Lausch, E. and Lorini, P.V. and Lamounier, A. and Carniero, T.C.B. and Giunta, C. and Rohrbach, M. and Janner, M. and Semler, O. and Beleggia, F. and Li, Y. and Yigit, G. and Reintjes, N. and Altmüller, J. and Nürnberg, P. and Cavalcanti, D.P. and Zabel, B. and Warman, M.L. and Bertola, D.R. and 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. and Görg, B. and Friedburg, C. and Qvartskhava, N. and Budde, B.S. and Bonus, M. and Toliat, M.R. and Pfleger, C. and Altmüller, J. and Herebian, D. and Beyer, M. and Zöllner, H.J. and Wittsack, H.J. and Schaper, J. and Klee, D. and Zechner, U. and Nürnberg, P. and Schipper, J. and Schnitzler, A. and Gohlke, H. and Lorenz, B. and 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. and Hahnen, E. and Schneider, S. and Reuss, A. and Richters, L. and Kommoss, S. and Heimbach, A. and Marmé, F. and Schmidt, S. and Prieske, K. and Gevensleben, H. and Burges, A. and Borde, J. and De Gregorio, N. and Nürnberg, P. and El-Balat, A. and Thiele, H. and Hilpert, F. and Altmüller, J. and Meier, W. and Dietrich, D. and Kimmig, R. and Schoemig-Markiefka, B. and Kast, K. and Braicu, E. and Baumann, K. and Jackisch, C. and Park-Simon, T.W. and Ernst, C. and Hanker, L. and Pfisterer, J. and Schnelzer, A. and du Bois, A. and 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. and Leu, C. and Pogoda, H.M. and Arno, G. and Robson, A.G. and Nürnberg, G. and Altmüller, J. and Thiele, H. and Motameny, S. and Toliat, M.R. and Powell, K. and Höhne, W. and Michaelides, M. and Webster, A.R. and Moore, A.T. and Hammerschmidt, M. and Nürnberg, P. and 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. and Leblay, N. and Gabriel, A.A.G. and Mangiante, L. and Hervas, D. and Giffon, T. and Sertier, A.S. and Ferrari, A. and Derks, J. and Ghantous, A. and Delhomme, T.M. and Chabrier, A. and Cuenin, C. and Abedi-Ardekani, B. and Boland, A. and Olaso, R. and Meyer, V. and Altmuller, J. and Le Calvez-Kelm, F. and Durand, G. and Voegele, C. and Boyault, S. and Moonen, L. and Lemaitre, N. and Lorimier, P. and Toffart, A.C. and Soltermann, A. and Clement, J.H. and Saenger, J. and Field, J.K. and Brevet, M. and Blanc-Fournier, C. and Galateau-Salle, F. and Le Stang, N. and Russell, P.A. and Wright, G. and Sozzi, G. and Pastorino, U. and Lacomme, S. and Vignaud, J.M. and Hofman, V. and Hofman, P. and Brustugun, O.T. and Lund-Iversen, M. and Thomas de Montpreville, V. and Muscarella, L.A. and Graziano, P. and Popper, H. and Stojsic, J. and Deleuze, J.F. and Herceg, Z. and Viari, A. and Nuernberg, P. and Pelosi, G. and Dingemans, A.M.C. and Milione, M. and Roz, L. and Brcic, L. and Volante, M. and Papotti, M.G. and Caux, C. and Sandoval, J. and Hernandez-Vargas, H. and Brambilla, E. and Speel, E.J.M. and Girard, N. and Lantuejoul, S. and McKay, J.D. and Foll, M. and Fernandez-Cuesta, L.
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. and Nguyen, T.T.M. and Baratang, N. and Raju, P.K. and Knaus, A. and Ellard, S. and Jones, G. and Lace, B. and Rousseau, J. and Ajeawung, N.F. and Kamei, A. and Minase, G. and Akasaka, M. and Araya, N. and Koshimizu, E. and van den Ende, J. and Erger, F. and Altmüller, J. and Krumina, Z. and Strautmanis, J. and Inashkina, I. and Stavusis, J. and El-Gharbawy, A. and Sebastian, J. and Puri, R.D. and Kulshrestha, S. and Verma, I.C. and Maier, E.M. and Haack, T.B. and Israni, A. and Baptista, J. and Gunning, A. and Rosenfeld, J.A and Liu, P. and Joosten, M. and Rocha, M.E. and Hashem, M.O. and Aldhalaan, H.M. and Alkuraya, F.S. and Miyatake, S. and Matsumoto, N. and Krawitz, P.M. and Rossignol, E. and 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. and Engelhorn, J. and Altmüller, J. and Gutierrez-Marcos, J. and Werr, W.
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. and Paketci, C. and Altmueller, J. and Thiele, H. and Hoelker, I. and Yis, U. and Wirth, B.
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. and Schüler, H. and Alawi, M. and Kolbe, V. and Rybczynski, M. and Woitschach, R. and Sheikhzadeh, S. and Stark, V.C. and Olfe, J. and Roser, E. and Seggewies, F.S. and Mahlmann, A. and Hempel, M. and Hartmann, M.J. and Hillebrand, M. and Wieczorek, D. and Volk, A.E. and Kloth, K. and Koch-Hogrebe, M. and Abou Jamra, R.i and Mitter, D. and Altmüller, J. and Wey-Fabrizius, A. and Petersen, C. and Rau, I. and Borck, G. and Kubisch, C. and Mir, T.S. and von Kodolitsch, Y. and Kutsche, K. and Rosenberger, G.
Genetics in Medicine 21 (8): 1832-1841. August 2019

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari, H.S. and Sprute, R. and Wunderlich, G. and Daimagüler, H.S. and Karaca, E. and Contreras, A. and Becker, K. and Schulze-Rhonhof, M. and Kiening, K. and Karakulak, T. and Kloss, M. and Horn, A. and Pauls, A. and Nürnberg, P. and Altmüller, J. and Thiele, H. and Assmann, B. and 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. and Del Mar Reinés, M. and Müllerke, S. and Fischer, C. and Kapalczynska, M. and Berger, H. and Bakker, E.R.M. and Mollenkopf, H.J. and Rothenberg, M.E. and Wiedenmann, B. and Sauer, S. and Meyer, T.F.
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. and Marbach, F. and Tschernitz, S. and Ortner, C. and Berneburg, M. and Felthaus, O. and Prantl, L. and Kye, M.J. and Rappl, G. and Altmüller, J. and Thiele, H. and 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. and Schneeberger, P.E. and Kortüm, F. and Altmüller, J. and Santos-Simarro, F. and Baker, L. and Keller-Ramey, J. and White, S.M. and Campeau, P.M. and 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. and Zhang, R. and Ludwig, M. and Schmiedeke, E. and Rissmann, A. and Thiele, H. and Altmueller, J. and Herms, S. and Hilger, A.C. and Hildebrandt, F. and Reutter, H.
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. and Maurer, A. and Eipel, M. and Knoll, K. and Geelvink, M. and Veeck, J. and Knuechel, R. and van Essen, J. and Stoehr, R. and Hartmann, A. and Altmueller, J. and Graham, T.A. and Gaisa, N.T.
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. and Metsger, M. and Bauch, S. and Vidal, R. and Böttcher, M. and Grote, P. and Kliem, M. and Sauer, S.
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. and Dworschak, G.C. and Frese, S. and Japp, A.S. and Schuster, P. and Wenzlitschke, N. and Yilmaz, Ö. and Lopes, F.M. and Pryalukhin, A. and Schierbaum, L. and van der Zanden, L.F.M. and Kause, F. and Schneider, R. and Taranta-Janusz, K. and Szczepańska, M. and Pawlaczyk, K. and Newman, W.G. and Beaman, G.M. and Stuart, H.M. and Cervellione, R.M. and Feitz, W.F.J. and van Rooij, I.A.L.M. and Schreuder, M.F. and Steffens, M. and Weber, S. and Merz, W.M. and Feldkötter, M. and Hoppe, B. and Thiele, H. and Altmüller, J. and Berg, C. and Kristiansen, G. and Ludwig, M. and Reutter, H. and Woolf, A.S. and Hildebrandt, F. and Grote, P. and Zaniew, M. and 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. and Borde, J. and Weber-Lassalle, K. and Horváth, J. and Niederacher, D. and Arnold, N. and Kaulfuß, S. and Ernst, C. and Paul, V.G. and Honisch, E. and Klaschik, K. and Volk, A.E. and Kubisch, C. and Rapp, S. and Lichey, N. and Altmüller, J. and Lepkes, L. and Pohl-Rescigno, E. and Thiele, H. and Nürnberg, P. and Larsen, M. and Richters, L. and Rhiem, K. and Wappenschmidt, B. and Engel, C. and Meindl, A. and Schmutzler, R.K. and Hahnen, E. 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. and Siebert, S. and Quaas, M. and Thalheim, T. and Rother, K. and Hussong, M. and Altmüller, J. and Kerner, C. and Galle, J. and Schweiger, M.R. and Aust, G.
Clinical Epigenetics 11 (1): 65. 27 April 2019

Intestinal-cell kinase and juvenile myoclonic epilepsy.
Lerche, H. and 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. and Rustad, C.F. and Riess, A. and Đukić, D. and Hsieh, T.C. and Jobani, I. and Prescott, T. and Bevot, A. and Erger, F. and Houge, G. and Redfors, M. and Altmueller, J. and Stokowy, T. and Gilissen, C. and Kubisch, C. and Scarano, E. and Mazzanti, L. and Fiskerstrand, T. and Krawitz, P.M. and 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. and Altmüller, J. and Schröder, S. and Ohlenbusch, A. and Dreha-Kulaczewski, S. and Bergmann, C. and Nürnberg, P. and Thiele, H. and Li, Y. and 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. and Hanzlikova, H. and Gupta, N. and Li, Y. and Altmüller, J. and Reynolds, J.J. and Stewart, G.S. and Wollnik, B. and 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. and Riechert, E. and Kalinski, L. and Boileau, E. and Malovrh, E. and Malone, B. and Gorska, A. and Hofmann, C. and Varma, E. and Jürgensen, L. and Kamuf-Schenk, V. and Altmüller, J. and Tappu, R. and Busch, M. and Most, P. and Katus, H.A. and Dieterich, C. and Völkers, M.
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. and George, A. and Ratbi, I. and Schneider, R. and Elalaoui, S.C. and Moosa, S. and Bharti, S. and Sharma, R. and Abu-Asab, M. and Onojafe, F. and Adadi, N. and Lodder, E.M. and Laarabi, F.Z. and Lamsyah, Y. and Elorch, H. and Chebbar, I. and Postma, A.V. and Lougaris, V. and Plebani, A. and Altmueller, J. and Kyrieleis, H. and Meiner, V. and McNeill, H. and Bharti, K. and Lyonnet, S. and Wollnik, B. and Henrion-Caude, A. and Berraho, A. and Hildebrandt, F. and Bezzina, C.R. and 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. and Fischer, A. and Farrelly, A.M. and Kalachand, R. and Castiglione, R. and Wasserburger, E. and Hussong, M. and Schultheis, Anne M and Altmüller, J. and Thiele, H. and Reinhardt, H.C. and Hauschulz, K. and Hennessy, B.T. and Herwig, R. and Lienhard, M. and 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. and Sedlazeck, F.J. and Schatz, M.C and Altmüller, J. and Zytnicki, M. and Nolte, A.W.
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. and Alakloby, O.M. and Gruber, R. and Kakar, N. and Ahmad, J. and Alawbathani, S. and Plank, R. and Eckl, K. and Krabichler, B. and Altmüller, J. and Nürnberg, P. and Zschocke, J. and Borck, G. and Schmuth, M. and Alabdulkareem, A.S. and Abdulaziz Alnutaifi, K. and Hennies, H.C.
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. and Seufert, J. and Raimondi, F. and Bens, S. and Kleinheinz, K. and Nagel, I. and Altmüller, J. and Thiele, H. and Hübschmann, D. and Kohler, C.W. and Nürnberg, P. and Au-Yeung, R. and Burkhardt, B. and Horn, H. and Leoncini, L. and Jaffe, E.S. and Ott, G. and Rymkiewicz, G. and Schlesner, M. and Russell, R.B. and 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. and Fang, L. and Heuberger, J. and Kranz, A. and Schipper, J. and Scheckenbach, K. and Oliveira Vidal, R. and Sunaga-Franze, D.Y. and Müller, M. and Wulf-Goldenberg, A. and Sauer, S. and Birchmeier, W.
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. and Alonso-Lobo, J.M. and Montanuy, I. and Fischer, C. and Sauer, S. and Sigal, L. and Sevilla, N. and Alcamí, A.
Nature Communications 9 (1): 5440. 21 December 2018

A mechanistic classification of clinical phenotypes in neuroblastoma.
Ackermann, S. and Cartolano, M. and Hero, B. and Welte, A. and Kahlert, Y. and Roderwieser, A. and Bartenhagen, C. and Walter, E. and Gecht, J. and Kerschke, L. and Volland, R. and Menon, R. and Heuckmann, J.M. and Gartlgruber, M. and Hartlieb, S. and Henrich, K.O. and Okonechnikov, K. and Altmüller, J. and Nürnberg, P. and Lefever, S. and de Wilde, B. and Sand, F. and Ikram, F. and Rosswog, C. and Fischer, J. and Theissen, J. and Hertwig, F. and Singhi, A.D. and Simon, T. and Vogel, W. and Perner, S. and Krug, B. and Schmidt, M. and Rahmann, S. and Achter, V. and Lang, U. and Vokuhl, C. and Ortmann, M. and Büttner, R. and Eggert, A. and Speleman, F. and O'Sullivan, R.J. and Thomas, R.K. and Berthold, F. and Vandesompele, J. and Schramm, A. and Westermann, F. and Schulte, J.H. and 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. and Fatima, A. and Gutiérrez-Garcia, R. and Rinschen, M.M. and Wagle, P. and Altmüller, J. and Arrigoni, L. and Hummel, B. and Klein, C. and Frese, C.K. and Sawarkar, R. and 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. and Becker, K. and Herkenrath, P. and Düchting, C. and Körber, F. and Landgraf, P. and Nürnberg, P. and Altmüller, J. and Thiele, H. and Koy, A. and Liebau, M.C. and Simon, T. and Dötsch, J. and Cirak, S.
Neuropediatrics 49 (6): 379-384. December 2018

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci, S. and Li, Y. and Agolini, E. and Bellacchio, E. and Arboleda-Bustos, C.E. and Carrero, D. and Bertola, D. and Al-Gazali, L. and Alders, M. and Altmüller, J. and Arboleda, G. and Beleggia, F. and Bruselles, A. and Ciolfi, A. and Gillessen-Kaesbach, G. and Krieg, T. and Mohammed, S. and Müller, C. and Novelli, A. and Ortega, J. and Sandoval, A. and Velasco, G. and Yigit, G. and Arboleda, H. and Lopez-Otin, C. and Wollnik, B. and 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. and López, C. and Kleinheinz, K. and Bausinger, J. and Aukema, S.M. and Nagel, I. and Toprak, U.H. and Seufert, J. and Altmüller, J. and Thiele, H. and Schneider, C. and Kolarova, J. and Park, J. and Hübschmann, D. and Murga Penas, E.M. and Drexler, H.G. and Attarbaschi, A. and Hovland, R. and Kjeldsen, E. and Kneba, M. and Kontny, U. and de Leval, L. and Nürnberg, P. and Oschlies, I. and Oscier, D. and Schlegelberger, B. and Stilgenbauer, S. and Wössmann, W. and Schlesner, M. and Burkhardt, B. and Klapper, W. and Jaffe, E.S. and 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. and Tafazzoli, A. and Mattern, M. and Sivalingam, S. and Wolf, S. and Rupp, A. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Ellwanger, J. and Gambon, R. and Baumer, Al. and Kohlschmidt, N. and Metze, D. and Holdenrieder, S. and Paus, R. and Lütjohann, D. and Frank, J. and Geyer, M. and Bertolini, M. and 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. and Nampoothiri, S. and Kortüm, F. and Thomas, J. and Panicker, V.V. and Alawi, M. and Altmüller, J. and Yesodharan, D. and Kutsche, K.
British Journal of Dermatology 179 (5): 1192-1194. 1 November 2018

Exon junction complexes suppress spurious splice sites to safeguard transcriptome integrity.
Boehm, V. and Britto-Borges, T. and Steckelberg, A.L. and Singh, K.K. and Gerbracht, J.V. and Gueney, E. and Blazquez, L. and Altmüller, J. and Dieterich, C. 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. and Bandulik, S. and Mammen, C. and Tarailo-Graovac, M. and Holm, R. and Baumann, M. and König, J. and Lee, J.J.Y. and Drögemöller, B. and Imminger, K. and Beck, B.B. and Altmüller, J. and Thiele, H. and Waldegger, S. and Van't Hoff, W. and Kleta, R. and Warth, R. and van Karnebeek, C.D.M. and Vilsen, B. and 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. and Marko, M. and Munck, M. and Glöckner, G. and Motameny, S. and Altmüller, J. and Noegel, A.A. and Eichinger, L. and 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. and Lovric, S. and Schapiro, D. and Schneider, R. and Marquez, J. and Asif, M. and Hussain, M.S. and Daga, A. and Widmeier, E. and Rao, J. and Ashraf, S. and Tan, W. and Lusk, C.P. and Kolb, A. and Jobst-Schwan, T. and Schmidt, J.M. and Hoogstraten, C.A. and Eddy, K. and Kitzler, T.M. and Shril, S. and Moawia, A. and Schrage, K. and Khayyat, A.I.A. and Lawson, J.A. and Gee, H.Y. and Warejko, J.K. and Hermle, T. and Majmundar, A.J. and Hugo, H. and Budde, B. and Motameny, S. and Altmüller, J. and Noegel, A. A. and Fathy, H.M. and Gale, D.P. and Waseem, S.S. and Khan, A. and Kerecuk, L. and Hashmi, S. and Mohebbi, N. and Ettenger, R. and Serdaroğlu, E. and Alhasan, K.A. and Hashem, M. and Goncalves, S. and Ariceta, G. and Ubetagoyena, M. and Antonin, W. and Baig, S.M. and Alkuraya, F.S. and Shen, Q. and Xu, H. and Antignac, C. and Lifton, R.P. and Mane, S. and Nürnberg, P. and 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. and Kuo, Y.R. and Altmüller, J. 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. and Becker, K. and Huang, H. and Dixon-Salazar, T. and Chai, G. and Salpietro, V. and Al-Gazali, L. and Waisfisz, Q. and Wang, H. and Vaux, K.K. and Stanley, V. and Manole, A. and Akpulat, U. and Weiss, M.M. and Efthymiou, S. and Hanna, M.G. and Minetti, C. and Striano, P. and Pisciotta, L. and De Grandis, E. and Altmüller, J. and Weixler, L. and Nürnberg, P. and Thiele, H. and Yis, U. and Okur, T.D. and Polat, A.I. and Amiri, N. and Doosti, M. and Karimani, E.G. and Toosi, M.B. and Haddad, G. and Karakaya, M. and Wirth, B. and van Hagen, J.M. and Wolf, N.I. and Maroofian, R. and Houlden, H. and 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. and Becker, K. and Gottschalk, I. and Körber, F. and Dötsch, J. and Thiele, H. and Altmüller, J. and Nürnberg, P. and 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. and Storbeck, M. and Strathmann, E.A. and Delle Vedove, A. and Hölker, I. and Altmueller, J. and Naghiyeva, L. and Schmitz-Steinkrüger, L. and Vezyroglou, K. and Motameny, S. and Alawbathani, S. and Thiele, H. and Polat, A.I. and Okur, D. and Boostani, R. and Karimiani, E.G. and Wunderlich, G. and Ardicli, D. and Topaloglu, H. and Kirschner, J. and Schrank, B. and Maroofian, R. and Magnusson, O. and Yis, U. and Nürnberg, P. and Heller, R. and Wirth, B.
Human Mutation 39 (9): 1284-1298. September 2018

Rare gene deletions in genetic generalized and Rolandic epilepsies.
Jabbari, K. and Bobbili, D.R. and Lal, D. and Reinthaler, E.M. and Schubert, J. and Wolking, S. and Sinha, V. and Motameny, S. and Thiele, H. and Kawalia, A. and Altmüller, J. and Toliat, M.R. and Kraaij, R. and van Rooij, J. and Uitterlinden, A.G. and Ikram, M.A. and Zara, F. and Lehesjoki, A.E. and Krause, R. and Zimprich, F. and Sander, T. and Neubauer, B.A. and May, P. and 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. and Sarlós, K. and Logan, C.V. and Thakur, R.S. and Parry, D.A. and Bizard, A.H. and Leitch, A. and Cleal, L. and Ali, N.S. and Al-Owain, M.A. and Allen, W. and Altmüller, J. and Aza-Carmona, M. and Barakat, B.A.Y. and Barraza-García, J. and Begtrup, A. and Bogliolo, M. and Cho, M.T. and Cruz-Rojo, J. and Dhahrabi, H.A.M. and Elcioglu, N.H. and Gorman, G.S. and Jobling, R. and Kesterton, I. and Kishita, Y. and Kohda, M. and Le Quesne Stabej, P. and Malallah, A.J. and Nürnberg, P. and Ohtake, A. and Okazaki, Y. and Pujol, R. and Ramirez, M.J. and Revah-Politi, A. and Shimura, M. and Stevens, P. and Taylor, R.W. and Turner, L. and Williams, H. and Wilson, C. and Yigit, G. and Zahavich, L. and Alkuraya, F.S. and Surralles, J. and Iglesias, A. and Murayama, K. and Wollnik, B. and Dattani, M. and Heath, K.E. and 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. and Konrad, M. and Verkaart, S.A.J. and Tkaczyk, M. and Latta, F. and Altmüller, J. and Thiele, H. and Beck, B. and Schlingmann, K.P. and de Baaij, J.H.F.
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. and Girard, S. and Harrer, M. and Bobbili, D.R. and Schubert, J. and Wolking, S. and Becker, F. and Lachance-Touchette, P. and Meloche, C. and Gravel, M. and Niturad, C.E. and Knaus, J. and De Kovel, C. and Toliat, M. and Polvi, A. and Iacomino, M. and Guerrero-López, R. and Baulac, S. and Marini, C. and Thiele, H. and Altmüller, J. and Jabbari, K. and Ruppert, A.K. and Jurkowski, W. and Lal, D. and Rusconi, R. and Cestèle, S. and Terragni, B. and Coombs, I.D. and Reid, C.A. and Striano, P. and Caglayan, H. and Siren, A. and Everett, K. and Møller, R.S. and Hjalgrim, H. and Muhle, H. and Helbig, I. and Kunz, W.S. and Weber, Y.G. and Weckhuysen, S. and Jonghe, P.D. and Sisodiya, S.M. and Nabbout, R. and Franceschetti, S. and Coppola, A. and Vari, M.S. and Kasteleijn-Nolst Trenité, D. and Baykan, B. and Ozbek, U. and Bebek, N. and Klein, K.M. and Rosenow, F. and Nguyen, D.K. and Dubeau, F. and Carmant, L. and Lortie, A. and Desbiens, R. and Clément, J.F. and Cieuta-Walti, C. and Sills, G.J. and Auce, P. and Francis, B. and Johnson, M.R. and Marson, A.G. and Berghuis, B. and Sander, J.W. and Avbersek, A. and McCormack, M. and Cavalleri, G.L. and Delanty, N. and Depondt, C. and Krenn, M. and Zimprich, F. and Peter, S. and Nikanorova, M. and Kraaij, R. and van Rooij, J. and Balling, R. and Ikram, M.A. and Uitterlinden, A.G. and Avanzini, G. and Schorge, S. and Petrou, S. and Mantegazza, M. and Sander, T. and LeGuern, E. and Serratosa, J.M. and Koeleman, B.P.C. and Palotie, A. and Lehesjoki, A.E. and Nothnagel, M. and Nürnberg, P. and Maljevic, S. and Zara, F. and Cossette, P. and 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. and Ntini, E. and Conrad, T. 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. and Fischer, C. and Ambrosi, T.H. and Bothe, M. and Han, C.T. and Muenzner, M. and Mathia, S. and Salminen, M. and Seifert, G. and Thiele, M. and Duda, G.N. and Meijsing, S.H. and Sauer, S. and 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. and Brecht, J. and Thelen, M.P. and Rehorst, W.A. and Peters, M. and Lee, H.J. and Motameny, S. and Torres-Benito, L. and Ebrahimi-Fakhari, D. and Kononenko, N.L. and Altmüller, J. and Vilchez, D. and Sahin, M. and Wirth, B. and Kye, M.J.
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. and Nikolic, M. and Sofiadis, K. and Mallm, J.P. and Brackley, C.A. and Gothe, H. and Drechsel, O. and Becker, C. and Altmüller, J. and Josipovic, N. and Georgomanolis, T. and Brant, L. and Franzen, J. and Koker, M. and Gusmao, E.G. and Costa, I.G. and Ullrich, R.T. and Wagner, W. and Roukos, V. and Nürnberg, P. and Marenduzzo, D. and 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. and Osterloh, M. and Schulz, V.M. and Altmüller, J. and Becker, C. and 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. and Altmüller, J. and 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. and Blei, D. and Trombly, G. and Corsi, S. and Szukszto, M.J. and Rebelo-Guiomar, P. and Gammage, P.A. and Kudin, A.P. and Becker, C. and Altmüller, J. and Minczuk, M. and Zsurka, G. and Kunz, W.S.
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. and Zhang, R. and Bungenberg, J. and Marks, M. and Gehlen, J. and Ralser, D.J. and Hilger, A.C. and Sharma, A. and Schumacher, J. and Gembruch, U. and Merz, W.M. and Becker, A. and Altmüller, J. and Thiele, H. and Herrmann, B.G. and Odermatt, B. and Ludwig, M. and Reutter, H.
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. and Horvath, J. and Groß, E. and Gehrig, A. and Honisch, E. and Hackmann, K. and Schmidt, G. and Arnold, N. and Faust, U. and Sutter, C. and Hentschel, J. and Wang-Gohrke, S. and Smogavec, M. and Weber, B.H.F. and Weber-Lassalle, N. and Weber-Lassalle, K. and Borde, J. and Ernst, C. and Altmüller, J. and Volk, A.E. and Thiele, H. and Hübbel, V. and Nürnberg, P. and Keupp, K. and Versmold, B. and Pohl, E. and Kubisch, C. and Grill, S. and Paul, V. and Herold, N. and Lichey, N. and Rhiem, K. and Ditsch, N. and Ruckert, C. and Wappenschmidt, B. and Auber, B. and Rump, A. and Niederacher, D. and Haaf, T. and Ramser, J. and Dworniczak, B. and Engel, C. and Meindl, A. and 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. and Walter, V. and Peifer, M. and Alexandrov, L.B. and Seidel, D. and Leenders, F. and Maas, L. and Müller, C. and Dahmen, I. and Delhomme, T.M. and Ardin, M. and Leblay, N. and Byrnes, G. and Sun, R. and De Reynies, A. and McLeer-Florin, A. and Bosco, G. and Malchers, F. and Menon, R. and Altmüller, J. and Becker, C. and Nürnberg, P. and Achter, V. and Lang, U. and Schneider, P.M. and Bogus, M. and Soloway, M.G. and Wilkerson, M.D. and Cun, Y. and McKay, J.D. and Moro-Sibilot, D. and Brambilla, C.G. and Lantuejoul, S. and Lemaitre, N. and Soltermann, A. and Weder, W. and Tischler, V. and Brustugun, O.T. and Lund-Iversen, M. and Helland, Å. and Solberg, S. and Ansén, S. and Wright, G. and Solomon, B. and Roz, L. and Pastorino, U. and Petersen, I. and Clement, J.H. and Sänger, J. and Wolf, J. and Vingron, M. and Zander, T. and Perner, S. and Travis, W.D. and Haas, S.A. and Olivier, M. and Foll, M. and Büttner, R. and Hayes, D.N. and Brambilla, E. and 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. and Altmueller, J. and Ekici, A.B. and Popp, B. and Stueber, K. and Thiele, H. and Pannes, A. and Staubach, S. and Salido, E. and Nuernberg, P. and Reinhardt, R. and Reis, A. and Rump, P. and Hanisch, F.G. and Wolf, M.T.F. and Wiesener, M. and 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. and Vergarajauregui, S. and Endele, S. and Popp, B. and Büttner, C. and Ekici, A.B. and Gerard, M. and Bramswig, N.C. and Albrecht, B. and Clayton-Smith, J. and Morton, J. and Tomkins, S. and Low, K. and Weber, A. and Wenzel, M. and Altmüller, J. and Li, Y. and Wollnik, B. and Hoganson, G. and Plona, M.R. and Cho, M.T. and Thiel, C.T. and Lüdecke, H.J. and Strom, T.M. and Calpena, E. and Wilkie, A.O.M. and Wieczorek, D. and 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. and Ernst, C. and Günl, M. and Thiele, B. and Altmüller, J. and Walbot, V. and 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. and Abedpour, N. and Weiss, J. and Schmitt, A. and Jachimowicz, R.D. and Merkel, O. and Cartolano, M. and Oberbeck, S. and Mayer, P. and Berg, V. and Thomalla, D. and Kutsch, N. and Stiefelhagen, M. and Cramer, P. and Wendtner, C.M. and Persigehl, T. and Saleh, A. and Altmüller, J. and Nürnberg, P. and Pallasch, C. and Achter, V. and Lang, U. and Eichhorst, B. and Castiglione, R. and Schäfer, S.C. and Büttner, R. and Kreuzer, K.A. and Reinhardt, H.C. and Hallek, M. and Frenzel, L.P. and Peifer, M.
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. and Crispatzu, G. and Oberbeck, S. and Mayer, P. and Pützer, S. and von Jan, J. and Vasyutina, E. and Warner, K. and Weit, N. and Pflug, N. and Braun, T. and Andersson, E.I. and Yadav, B. and Riabinska, A. and Maurer, B. and Ventura Ferreira, M.S. and Beier, F. and Altmüller, J. and Lanasa, M. and Herling, C.D. and Haferlach, T. and Stilgenbauer, S. and Hopfinger, G. and Peifer, M. and Brümmendorf, T.H. and Nürnberg, P. and Elenitoba-Johnson, K.S.J. and Zha, S. and Hallek, M. and Moriggl, R. and Reinhardt, H.C. and Stern, M.H. and Mustjoki, S. and Newrzela, S. and Frommolt, P. and Herling, M.
Nature Communications 9 (1): 697. 15 February 2018

Olfactory receptors as biomarkers in human breast carcinoma tissues.
Weber, L. and Maßberg, D. and Becker, C. and Altmüller, J. and Ubrig, B. and Bonatz, G. and Wölk, G. and Philippou, S. and Tannapfel, A. and 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. and Lal, D. and May, P. and Reinthaler, E.M. and Jabbari, K. and Thiele, H. and Nothnagel, M. and Jurkowski, W. and Feucht, M. and Nürnberg, P. and Lerche, H. and Zimprich, F. and Krause, R. and Neubauer, B.A. and Reinthaler, E.M. and Zimprich, F. and Feucht, M. and Steinböck, H. and Neophytou, B. and Geldner, J. and Gruber-Sedlmayr, U. and Haberlandt, E. and Ronen, G.M. and Altmüller, J. and Lal, D. and Nürnberg, P. and Sander, T. and Thiele, H. and Krause, R. and May, P. and Balling, R. and Lerche, H. and Neubauer, B.A.
European Journal of Human Genetics 26 (2): 258-264. February 2018

The biotrophic development of Ustilago maydis studied by RNA-seq analysis.
Lanver, D. and Müller, A.N. and Happel, P. and Schweizer, G. and Haas, F.B. and Franitza, M. and Pellegrin, C. and Reissmann, S. and Altmüller, J. and 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. and Reutter, H. and Marsch, F. and Thiele, H. and Altmüller, J. and 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. and Hauke, J. and Ramser, J. and Richters, L. and Groß, E. and Blümcke, B. and Gehrig, A. and Kahlert, A.K. and Müller, C.R. and Hackmann, K. and Honisch, E. and Weber-Lassalle, K. and Niederacher, D. and Borde, J. and Thiele, H. and Ernst, C. and Altmüller, J. and Neidhardt, G. and Nürnberg, P. and Klaschik, K. and Schroeder, C. and Platzer, K. and Volk, A.E. and Wang-Gohrke, S. and Just, W. and Auber, B. and Kubisch, C. and Schmidt, G. and Horvath, J. and Wappenschmidt, B. and Engel, C. and Arnold, N. and Dworniczak, B. and Rhiem, K. and Meindl, A. and 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. and Lestringant, G.G. and Du-Thanh, A. and Kokordelis, P. and Fischer, J. and Basmanav, F.B.Ü. and Wolf, S. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Oji, V. and Fritz, G. and 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. and Margaritte-Jeannin, P. and Barnes, K.C. and Cookson, W.O.C. and Altmüller, J. and Ang, W. and Barr, R.G. and Beaty, T.H. and Becker, A.B. and Beilby, J. and Bisgaard, H. and Bjornsdottir, U.S. and Bleecker, E. and Bonnelykke, K. and Boomsma, D.I. and Bouzigon, E. and Brightling, C.E. and Brossard, M. and Brusselle, G.G. and Burchard, E. and Burkart, K.M. and Bush, A. and Chan-Yeung, M. and Chung, K.F. and Couto Alves, A. and Curtin, J.A. and Custovic, A. and Daley, D. and de Jongste, J.C. and Del-Rio-Navarro, B.E. and Donohue, K.M. and Duijts, L. and Eng, C. and Eriksson, J.G. and Farrall, M. and Fedorova, Y. and Feenstra, B. and Ferreira, M.A. and Freidin, M.B. and Gajdos, Z. and Gauderman, J. and Gehring, U. and Geller, F. and Genuneit, J. and Gharib, S.A and Gilliland, F. and Granell, R. and Graves, P.E. and Gudbjartsson, D.F. and Haahtela, T. and Heckbert, S.R. and Heederik, D. and Heinrich, J. and Helioevaara, M. and Henderson, J. and Himes, B.E. and Hirose, H. and Hirschhorn, J.N. and Hofman, A. and Holt, P. and Hottenga, J. and Hudson, T.J. and Hui, J. and Imboden, M. and Ivanov, V. and Jaddoe, V.W.V. and James, A. and Janson, C. and Jarvelin, M.R. and Jarvis, D. and Jones, G. and Jonsdottir, I. and Jousilahti, P. and Kabesch, M. and Kähönen, M. and Kantor, D.B. and Karunas, A.S. and Khusnutdinova, E. and Koppelman, G.H. and Kozyrskyj, A.L. and Kreiner, E. and Kubo, M. and Kumar, R. and Kumar, A. and Kuokkanen, M. and Lahousse, L. and Laitinen, T. and Laprise, C. and Lathrop, M. and Lau, S. and Lee, Y.A. and Lehtimaeki, T. and Letort, S. and Levin, A.M. and Li, G. and Liang, L. and Loehr, L.R. and London, S.J. and Loth, D.W. and Manichaikul, A. and Marenholz, I. and Martinez, F.J. and Matheson, M.C. and Mathias, R.A. and Matsumoto, K. and Mbarek, H. and McArdle, W.L. and Melbye, M. and Melen, E. and Meyers, D. and Michel, S. and Mohamdi, H. and Musk, A.W. and Myers, R.A. and Nieuwenhuis, M.A.E. and Noguchi, E. and O'Connor, G.T. and Ogorodova, L.M. and Palmer, C.D. and Palotie, A. and Park, J.E. and Pennell, C.E. and Pershagen, G. and Polonikov, A. and Postma, D.S. and Probst-Hensch, N. and Puzyrev, V.P. and Raby, B.A. and Raitakari, O.T. and Ramasamy, A. and Rich, S.S. and Robertson, C.F. and Romieu, I. and Salam, M.T. and Salomaa, V. and Schluenssen, V. and Scott, R. and Selivanova, P.A. and Sigsgaard, T. and Simpson, A. and Siroux, V. and Smith, L.J. and Solodilova, M. and Standl, M. and Stefansson, K. and Strachan, D.P. and Stricker, B.H. and Takahashi, A. and Thompson, P.J. and Thorleifsson, G. and Thorsteinsdottir, U. and Tiesler, C.M.T. and Torgerson, D.G. and Tsunoda, T. and Uitterlinden, A.G. and van der Valk, R.J.P. and Vaysse, A. and Vedantam, S. and von Berg, A. and von Mutius, E. and Vonk, J.M. and Waage, J. and Wareham, N.J. and Weiss, S.T. and White, W.B. and Wickman, M. and Widén, E. and Willemsen, G. and Williams, L.K. and Wouters, I.M. and Yang, J.J. and Zhao, J.H. and Moffatt, M.F. and Ober, C. and Nicolae, D.L.
Nature Genetics 50 (1): 42-53. January 2018

2017

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
Alawbathani, S. and Kawalia, A. and Karakaya, M. and Altmüller, J. and Nürnberg, P. and Cirak, S.
Cold Spring Harbor Molecular Case Studies 4 (1): a002139. 19 December 2017

A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
Awazawa, M. and Gabel, P. and Tsaousidou, E. and Nolte, H. and Krüger, M. and Schmitz, J. and Ackermann, P.J. and Brandt, C. and Altmüller, J. and Motameny, S. and Wunderlich, F.T. and Kornfeld, J.W. and 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. and Czypionka, T. and Altmüller, J. and Rodriguez, A. and Küpfer, E. and Segev, O. and Blaustein, L. and Templeton, A.R. and 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. and Kirfel, J. and Peters, S. and Kloth, M. and Hüneburg, R. and Altmüller, J. and Drichel, D. and Odenthal, M. and Kristiansen, G. and Strassburg, C. and Nattermann, J. and Hoffmann, P. and Nürnberg, P. and Büttner, R. and Thiele, H. and Kahl, P. and 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. and Graul-Neumann, L. and Smorag, L. and Koenig, R. and Segebrecht, L. and Magoulas, P. and Scaglia, F. and Kilic, E. and Hennig, A.F. and Adolphs, N. and Saha, N. and Fauler, B. and Kalscheuer, V.M. and Hennig, F. and Altmüller, J. and Netzer, C. and Thiele, H. and Nürnberg, P. and Yigit, G. and Jäger, M. and Hecht, J. and Krüger, U. and Mielke, T. and Krawitz, P.M. and Horn, D. and Schuelke, M. and Mundlos, S. and Bacino, C.A. and Bonnen, P.E. and Wollnik, B. and 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. and Lev, D. and Kalscheuer, V.M. and Charzewska, A. and Schubert, J. and Lerman-Sagie, T. and Kroes, H.Y. and Oegema, R. and Traverso, M. and Specchio, N. and Lassota, M. and Chelly, J. and Bennett-Back, O. and Carmi, N. and Koffler-Brill, T. and Iacomino, M. and Trivisano, M. and Capovilla, G. and Striano, P. and Nawara, M. and Rzonca, S. and Fischer, U. and Bienek, M. and Jensen, C. and Hu, H. and Thiele, H. and Altmüller, J. and Krause, R. and May, P. and Becker, F. and Balling, R. and Biskup, S. and Haas, S.A. and Nürnberg, P. and van Gassen, K.L.I. and Lerche, H. and Zara, F. and 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. and Celli, R. and Cannella, M. and Imbriglio, T. and Guiducci, M. and Parisi, P. and Schubert, J. and Iacomino, M. and Zara, F. and Lerche, H. and Moyanova, S. and Ngomba, R.T. and van Luijtelaar, G. and Battaglia, G. and Bruno, V. and Striano, P. 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. and Ticozzi, N. and Weishaupt, J.H. and Kenna, K. and Diekstra, F.P. and Verde, F. and Andersen, P.M. and Dekker, A.M and Tiloca, C. and Marroquin, N. and Overste, D.J. and Pensato, V. and Nürnberg, P. and Pulit, S.L. and Schellevis, R.D. and Calini, D. and Altmüller, J. and Francioli, L.C. and Muller, B. and Castellotti, B. and Motameny, S. and Ratti, A. and Wolf, J. and Gellera, C. and Ludolph, A.C. and van den Berg, L.H. and Kubisch, C. and Landers, J.E. and Veldink, J.H. and Silani, V. and Volk, A.E.
Human Mutation 38 (11): 1534-1541. November 2017

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Fazeli, W. and Herkenrath, P. and Stiller, B. and Neugebauer, A. and Fricke, J. and Lang-Roth, R. and Nürnberg, G. and Thoenes, M. and Becker, J. and Altmüller, J. and Volk, A.E. and 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. and Weissbach, S. and Church, J.A. and Schnur, R. and Krusen, M. and Dreha-Kulaczewski, S. and Kühn-Velten, W.N. and Wolf, A. and Huppke, B. and Millan, F. and Begtrup, A. and Almusafri, F. and Thiele, H. and Altmüller, J. and Nürnberg, P. and 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. and Lederer, B. and Hauke, J. and Loibl, S. and Kröber, S. and Schneeweiss, A. and Denkert, C. and Fasching, P.A. and Blohmer, J.U. and Jackisch, C. and Paepke, S. and Gerber, B. and Kümmel, S. and Schem, C. and Neidhardt, G. and Huober, J. and Rhiem, K. and Costa, S. and Altmüller, J. and Hanusch, C. and Thiele, H. and Müller, V. and Nürnberg, P. and Karn, T. and Nekljudova, V. and Untch, M. and 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. and Reinert, M.C. and Altmüller, J. and Krätzner, R. and Thiele, H. and Rosenbaum, T. and 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. and Sedlazeck, F.J. and Iwaszkiewicz, E. and Li, X.Y. and Altmüller, J. 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. and Piard, J. and Bonnard, C. and Alfadhel, M. and Lim, S. and Bisteau, X. and Blouin, S. and Ali, N.A.B. and Ng, A.Y.J. and Lu, H. and Tohari, S. and Talib, S.Z.A. and van Hul, N. and Caldez, M.J. and Van Maldergem, L. and Yigit, G. and Kayserili, H. and Youssef, S.A. and Coppola, V. and de Bruin, A. and Tessarollo, L. and Choi, H. and Rupp, V. and Roetzer, K. and Roschger, P. and Klaushofer, K. and Altmüller, J. and Roy, S. and Venkatesh, B. and Ganger, R. and Grill, F. and Ben Chehida, F. and Wollnik, B. and Altunoglu, U. and Al Kaissi, A. and 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. and Hauke, J. and Ramser, J. and Groß, E. and Gehrig, A. and Müller, C.R. and Kahlert, A.K. and Hackmann, K. and Honisch, E. and Niederacher, D. and Heilmann-Heimbach, S. and Franke, A. and Lieb, W. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Klaschik, K. and Ernst, C. and Ditsch, N. and Jessen, F. and Ramirez, A. and Wappenschmidt, B. and Engel, C. and Rhiem, K. and Meindl, A. and 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. and Kayserili, M.A. and Eken, A.G. and Yiş, U. and Leu, C. and Altmüller, J. and Thiele, H. and Nürnberg, P. and 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. and Loeys, B. and Altmüller, J. and Mortier, G. and Nürnberg, P. and Li, Y. and 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. and Altmüller, J. and Lyngbye, T. and Christensen, R. and Li, Y. and Nürnberg, P. and Yigit, G. and Vogel, I. and Wollnik, B.
Molecular Genetics & Genomic Medicine 5 (5): 580-584. September 2017

Chromatin immunoprecipitation (ChIP) protocol for low-abundance embryonic samples.
Rehimi, R. and Bartusel, M. and Solinas, F. and Altmüller, J. 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. and Feyerabend, T.B. and Rössler, J. and Wang, X. and Postrach, D. and Busch, K. and Rode, I. and Klapproth, K. and Dietlein, N. and Quedenau, C. and Chen, W. and Sauer, S. and Wolf, S. and 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. and Rapti, K. and Gorska, A.A. and Katus, H.A. and Altmüller, J. and Boeckel, J.N. and Meder, B. and Maack, C. and Völkers, M. and Müller, O.J. and Backs, J. and Dieterich, C.
Journal of Molecular and Cellular Cardiology 109 : 48-56. August 2017

Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad, I. and Baig, S.M. and Abdulkareem, A.R. and Hussain, M.S. and Sur, I. and Toliat, M.R. and Nürnberg, G. and Dalibor, N. and Moawia, A. and Waseem, S.S. and Asif, M. and Nagra, H. and Sher, M. and Khan, M.M.A. and Hassan, I. and Rehman, S.U. and Thiele, H. and Altmüller, J. and 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. and Lüdecke, H.J. and Hamdan, F.F. and Altmüller, J. and Beleggia, F. and Elcioglu, N.H. and Freyer, C. and Gerkes, E.H. and Demirkol, Y.K. and Knupp, K.G. and Kuechler, A. and Li, Y. and Lowenstein, D.H. and Michaud, J.L. and Park, K. and Stegmann, A.P.A. and Veenstra-Knol, H.E. and Wieland, T. and Wollnik, B. and Engels, H. and Strom, T.M. and 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. and Karakasilioti, I. and Altmüller, J. and Frommolt, P. and Brüning, J. and Kloppenburg, P.
eLife 6 : e25770. 20 June 2017

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.
Altmüller, J. and Haenisch, B. and Kawalia, A. and Menzen, M. and Nöthen, M.M. and 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. and Becirovic, E. and Betz, C. and Neuhaus, C. and Altmüller, J. and Maria Riedmayr, L. and Motameny, S. and Nürnberg, G. and 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. and Basmanav, F.B.Ü. and Tafazzoli, A. and Wititsuwannakul, J. and Delker, S. and Danda, S. and Thiele, H. and Wolf, S. and Busch, M. and Pulimood, S.A. and Altmüller, J. and Nürnberg, P. and Lacombe, D. and Hillen, U. and Wenzel, J. and Frank, J. and 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. and Stumpf, M. and Salamon, S. and Ahmad, I. and Bhattacharya, K. and Fischer, S. and Müller, R. and Altmüller, J. and Budde, B. and Thiele, H. and Tariq, M. and Malik, N.A. and Nürnberg, P. and Baig, S.M. and 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. and Haagerup, A. and Gregersen, P.A. and Petersen, K.K. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Cho, T.J. and Kim, O.H. and Nishimura, G. and 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. and Bicknell, L.S. and Carroll, P. and Higgs, M.R. and Shaheen, R. and Murray, J.E. and Papadopoulos, D.K. and Leitch, A. and Murina, O. and Tarnauskaitė, Ž. and Wessel, S.R. and Zlatanou, A. and Vernet, A. and von Kriegsheim, A. and Mottram, R.M.A. and Logan, C.V. and Bye, H. and Li, Y. and Brean, A. and Maddirevula, S. and Challis, R.C. and Skouloudaki, K. and Almoisheer, A. and Alsaif, H.S. and Amar, A. and Prescott, N.J. and Bober, M.B. and Duker, A. and Faqeih, E. and Seidahmed, M.Z. and Al Tala, S. and Alswaid, A. and Ahmed, S. and Al-Aama, J.Y. and Altmüller, J. and Al Balwi, M. and Brady, A.F. and Chessa, L. and Cox, H. and Fischetto, R. and Heller, R. and Henderson, B.D. and Hobson, E. and Nürnberg, P. and Percin, E.F. and Peron, A. and Spaccini, L. and Quigley, A.J. and Thakur, S. and Wise, C.A. and Yoon, G. and Alnemer, M. and Tomancak, P. and Yigit, G. and Taylor, A.M.R. and Reijns, M.A.M. and Simpson, M.A. and Cortez, D. and Alkuraya, F.S. and Mathew, C.G. and 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. and Al-Refae, K. and Ebbert, J. and Jägers, P. and Altmüller, J. and Becker, C. and Hahn, S. and 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. and Becker, A. and Hauke, J. and Horváth, J. and Bogdanova Markov, N. and Heilmann-Heimbach, S. and Hellebrand, H. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Meindl, A. and Rhiem, K. and Blümcke, B. and Wappenschmidt, B. and 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. and Alonso, G. and Alonso-Lobo, J.M. and Rastrojo, A. and Fischer, C. and Sauer, S. and Aguado, B. and Alcamí, A.
Journal of Immunology Research 2017 : 5157626. 9 February 2017

Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation.
Tsai, T. and Veitinger, S. and Peek, I. and Busse, D. and Eckardt, J. and Vladimirova, D. and Jovancevic, N. and Wojcik, S. and Gisselmann, G. and Altmüller, J. and Ständer, S. and Luger, T. and Paus, R. and 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. and Al-Refae, K. and Wölk, G. and Bonatz, G. and Altmüller, J. and Becker, C. and Gisselmann, G. and Hatt, H.
Breast Cancer: Targets and Therapy 8 : 243-252. 13 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. and Owczarek-Lipska, M. and Spital, G. and Röger, C. and Hinz, H. and Jüschke, C. and Thiele, H. and Altmüller, J. and Nürnberg, P. and 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. and Fischer, C. and Sauer, S.
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. and Scheffler, M. and Plenker, D. and Dahmen, L. and Scheel, A.H. and Fernandez-Cuesta, L. and Meder, L. and Lovly, C.M. and Persigehl, T. and Merkelbach-Bruse, S. and Bos, M. and Michels, S. and Fischer, R. and Albus, K. and König, K. and Schildhaus, H.U. and Fassunke, Jana and Ihle, M.A. and Pasternack, H. and Heydt, C. and Becker, C. and Altmüller, J. and Ji, H. and Müller, C. and Florin, A. and Heuckmann, J.M. and Nuernberg, P. and Ansén, S. and Heukamp, L.C. and Berg, J. and Pao, W. and Peifer, M. and Buettner, R. and Wolf, J. and 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. and Kuechler, A. and Vergano, S. and Heinritz, W. and Bodurtha, J. and Merchant, S.R. and Breningstall, G. and Ladda, R. and Sell, S. and Altmüller, J. and Bögershausen, N. and Timms, A.E. and Hackmann, K. and Schrock, E. and Collins, S. and Olds, C. and 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. and Karakoc, E. and Neme, R. and Teschke, M. and Pfeifle, C. and Pezer, Ž. and Babiker, H. and Linnenbrink, M. and Montero, I. and Scavetta, R. and Abai, M.R. and Molins, M.P. and Schlegel, M. and Ulrich, R.G. and Altmüller, J. and Franitza, M. and Büntge, A. and 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. and Fano, V. and Obregon, M.G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and 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. and Vogel, F. and Hofreuter, A. and Wojcik, S. and Schoeder, C. and Kieć-Kononowicz, K. and Brockmeyer, N.H. and Müller, C.E. and Becker, C. and Altmüller, J. and 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. and Spier, I. and Zhao, B. and Kloth, M. and Marquez, J. and Hinrichsen, I. and Kirfel, J. and Tafazzoli, A. and Horpaopan, S. and Uhlhaas, S. and Stienen, D. and Friedrichs, N. and Altmüller, J. and Laner, A. and Holzapfel, S. and Peters, S. and Kayser, K. and Thiele, H. and Holinski-Feder, E. and Marra, G. and Kristiansen, G. and Nöthen, M.M. and Büttner, R. and Möslein, G. and Betz, R.C. and Brieger, A. and 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. and Motameny, S. and Becker, C. and Thiele, H. and Chatterjee, S. and Wollnik, B. and Nürnberg, P.
Biological Chemistry 397 (8): 791-801. 1 August 2016

The activation of OR51E1 causes growth suppression of human prostate cancer cells.
Maßberg, D. and Jovancevic, N. and Offermann, A. and Simon, A. and Baniahmad, A. and Perner, S. and Pungsrinont, T. and Luko, K. and Philippou, S. and Ubrig, B. and Heiland, M. and Weber, L. and Altmüller, J. and Becker, C. and Gisselmann, G. and 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. and Klaumünzer, M. and Rocha, C.K. and Altmüller, J. and Thiele, H. and Bahlo, J. and Kluth, S. and Crispatzu, G. and Herling, M. and Schiller, J. and Engelke, A. and Tausch, E. and Döhner, H. and Fischer, K. and Goede, V. and Nürnberg, P. and Reinhardt, H.C. and Stilgenbauer, S. and 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. and Beleggia, F. and Herzig, H. and Altmüller, J. and Nürnberg, P. and Bloch, W. and Wollnik, B. and Hammerschmidt, M.
eLife 5 : e14277. 15 July 2016

A large deletion in RPGR causes XLPRA in Weimaraner dogs.
Kropatsch, R. and Akkad, D.A. and Frank, M. and Rosenhagen, C. and Altmüller, J. and Nürnberg, P. and 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. and Lemke, J. and Altmüller, J. and Thiele, H. and Glaus, E. and Fleischhauer, J. and Nürnberg, P. and Neidhardt, J. and Berger, W.
PLoS ONE 11 (7): e0158692. 8 July 2016

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

Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations.
Laghmani, K. and Beck, B.B. and Yang, S.S. and Seaayfan, E. and Wenzel, A. and Reusch, B. and Vitzthum, H. and Priem, D. and Demaretz, S. and Bergmann, K. and Duin, L.K. and Göbel, H. and Mache, C. and Thiele, H. and Bartram, M.P. and Dombret, C. and Altmüller, J. and Nürnberg, P. and Benzing, T. and Levtchenko, E. and Seyberth, H.W. and Klaus, G. and Yigit, G. and Lin, S.H. and Timmer, A. and de Koning, T.J. and Scherjon, S.A. and Schlingmann, K.P. and Bertrand, M.J.M. and Rinschen, M.M. and de Backer, O. and 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. and Obregon, M.G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and 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. and Kalbe, B. and Jansen, F. and Altmüller, J. and Becker, C. and Mohrhardt, J. and Schreiner, B. and Gisselmann, G. and 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. and Kerick, M. and Drichel, D. and Horpaopan, S. and Altmüller, J. and Laner, A. and Holzapfel, S. and Peters, S. and Adam, R. and Zhao, B. and Becker, T. and Lifton, R.P. and Holinski-Feder, E. and Perner, S. and Thiele, H. and Nöthen, M.M. and Hoffmann, P. and Timmermann, B. and Schweiger, M.R. and Aretz, S.
Familial Cancer 15 (2): 281-288. April 2016

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Moosa, S. and Chung, B.H.Y. and Tung, J.Y.L. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Netzer, C. and 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. and Reinthaler, E.M. and Dejanovic, B. and May, P. and Thiele, H. and Lehesjoki, A.E. and Schwarz, G. and Riesch, E. and Ikram, M.A. and van Duijn, C.M. and Uitterlinden, A.G. and Hofman, A. and Steinböck, H. and Gruber-Sedlmayr, U. and Neophytou, B. and Zara, F. and Hahn, A. and Gormley, P. and Becker, F. and Weber, Y.G. and Cilio, M.R. and Kunz, W.S. and Krause, R. and Zimprich, F. and Lemke, J.R. and Nürnberg, P. and Sander, T. and 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. and Habbig, S. and Pahmeyer, C. and Höhne, M. and Weber, L.T. and Thiele, H. and Altmüller, J. and Kottoor, N. and Wenzel, A. and Krueger, M. and Schermer, B. and Benzing, T. and 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. and Wieczorek, D. and Bögershausen, N. and Beleggia, F. and Möller-Hartmann, C. and Altmüller, J. and Thiele, H. and 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. and Becker, F. and Møller, R.S. and Schubert, J. and Lemke, J.R. and Larsen, L.H.G. and Eiberg, H. and Nothnagel, M. and Thiele, H. and Altmüller, J. and Syrbe, S. and Merkenschlager, A. and Bast, T. and Steinhoff, B. and Nürnberg, P. and Mang, Y. and Bakke Møller, L. and Gellert, P. and Heron, S.E. and Dibbens, L.M. and Weckhuysen, S. and Dahl, H.A. and Biskup, S. and Tommerup, N. and Hjalgrim, H. and Lerche, H. and 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. and Schulz, A. and Krägeloh-Mann, I. and Dieckmann, N.M.G. and Niethammer, K. and Fuchs, S. and Eckl, K.M. and Plank, R. and Werner, R. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Bank, J. and Strauss, A. and von Bernuth, H. and Zur Stadt, U. and Grieve, S. and Griffiths, G.M. and Lehmberg, K. and Hennies, H.C. 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. and Hussain, M.S. and Sur, I. and Altmüller, J. and Thiele, H. and Abdullah, U. and Waseem, S.S. and Moawia, A. and Nürnberg, G. and Noegel, A.A. and 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. and Kakar, N. and Tayebi, N. and Leettola, C. and Nürnberg, G. and Sowada, N. and Lupiáñez, D.G. and Harabula, I. and Flöttmann, R. and Horn, D. and Chan, W.L. and Wittler, L. and Yilmaz, R. and Altmüller, J. and Thiele, H. and van Bokhoven, H. and Schwartz, C.E. and Nürnberg, P. and Bowie, J.U. and Ahmad, J. and Kubisch, C. and Mundlos, S. and Borck, G.
Genome Research 26 (2): 183-191. February 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. and Neubauer, B.A. and Toliat, M.R. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Kamrath, C. and Schänzer, A. and Sander, T. and Hahn, A. and Nothnagel, M.
PLoS ONE 11 (1): e0146040. January 2016

2015

Cold-aggravated pain in humans caused by a hyperactive Na(V)1.9 channel mutant.
Leipold, E. and Hanson-Kahn, A. and Frick, M. and Gong, P. and Bernstein, J.A. and Voigt, M. and Katona, I. and Oliver Goral, R. and Altmüller, J. and Nürnberg, P. and Weis, J. and Hübner, C.A. and 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. and Volk, A.E. and Herkenrath, P. and Thiele, H. and Fricke, J. and Altmüller, J. and Nürnberg, P. and 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. and Krugman, T. and Altmüller, J. and Blaustein, L. and Steinfartz, S. and Templeton, A.R. and 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. and Just, W. and Rosenbohm, A. and Müller, K. and Marroquin, N. and Goebel, I. and Högel, J. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Weishaupt, J.H. and Kubisch, C. and 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. and Romera-Branchat, M. and Martínez-Gallegos, R. and Patel, V. and Schneeberger, K. and Jang, S. and Altmüller, J. and 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. and Basmanav, F.B. and Nanda, A. and Fritz, G. and Mahmoudi, H. and Thiele, H. and Wehner, M. and Wolf, S. and Altmüller, J. and Nürnberg, P. and Frank, J. and Betz, R.C.
American Journal of Medical Genetics Part A 167 (11): 2555-2562. November 2015

Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex.
Olbrich, H. and Cremers, C. and Loges, N.T. and Werner, C. and Nielsen, K.G. and Marthin, J.K. and Philipsen, M. and Wallmeier, J. and Pennekamp, P. and Menchen, T. and Edelbusch, C. and Dougherty, G.W. and Schwartz, O. and Thiele, H. and Altmüller, J. and 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. and Altmüller, J. and Nürnberg, P. and Kotthoff, S. and 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. and Sedlazek, F. and Altmüller, J. and Nolte, A.W.
Proceedings of the Royal Society of London Series B-Biological Sciences 282 (1815): 20150746. 22 September 2015

Mutational dynamics between primary and relapse neuroblastomas.
Schramm, A. and Köster, J. and Assenov, Y. and Althoff, K. and Peifer, M. and Mahlow, E. and Odersky, A. and Beisser, D. and Ernst, C. and Henssen, A.G. and Stephan, H. and Schröder, C. and Heukamp, L. and Engesser, A. and Kahlert, Y. and Theissen, J. and Hero, B. and Roels, F. and Altmüller, J. and Nürnberg, P. and Astrahantseff, K. and Gloeckner, C. and De Preter, K. and Plass, C. and Lee, S. and Lode, H.N. and Henrich, K.O. and Gartlgruber, M. and Speleman, F. and Schmezer, P. and Westermann, F. and Rahmann, S. and Fischer, M. and Eggert, A. and Schulte, J.H.
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. and Holzapfel, S. and Altmüller, J. and Zhao, B. and Horpaopan, S. and Vogt, S. and Chen, S. and Morak, M. and Raeder, S. and Kayser, K. and Stienen, D. and Adam, R. and Nürnberg, P. and Plotz, G. and Holinski-Feder, E. and Lifton, R.P. and Thiele, H. and Hoffmann, P. and 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. and Elcioglu, N.H. and Beleggia, F. and Isgüven, P. and Altmüller, J. and Thiele, H. and Steindl, K. and Joset, P. and Rauch, A. and Nürnberg, P. and Wollnik, B. and Yigit, G.
Human Molecular Genetics 24 (13): 3708-3717. 1 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. and Mizumoto, S. and Kogawa, R. and Becker, C. and Altmüller, J. and Thiele, H. and Rueschendorf, F. and Toliat, M.R. and Kaleschke, G. and Haemmerle, J.M. and Hoehne, W. and Sugahara, K. and 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. and Dejanovic, B. and Lal, D. and Semtner, M. and Merkler, Y. and Reinhold, A. and Pittrich, D.A. and Hotzy, C. and Feucht, M. and Steinboeck, H. and Gruber-Sedlmayr, U. and Ronen, G. and Neophytou, B. and Geldner, J. and Haberlandt, E. and Muhle, H. and Ikram, M.A. and van Duijn, CM. and Uitterlinden, A.G. and Hofman, A. and Altmüller, J. and Kawalia, A. and Toliat, M.R. and Nuernberg, P. and Lerche, H. and Nothnagel, M. and Thiele, H. and Sander, T. and Meier, J.C. and Schwarz, G. and 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. and Altmueller, J. and Dieterich, C. and Gehring, N.H.
Nucleic Acids Research 43 (9): 4687-4700. 19 May 2015

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

2005

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J. and Seidel, C. and Lee, Y.A. and Loesgen, S. and Bulle, D. and Friedrichs, F. and Jellouschek, H. and Kelber, J. and Keller, A. and Schuster, A. and Silbermann, M. and Wahlen, W. and Wolff, P. and Rueschendorf, F. and Schlenvoigt, G. and 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. and Altmueller, J. and Strauch, K. and Rueschendorf, F. and Heinzmann, A. and Moffatt, M.F. and Cookson, W.O.C.M. and Inacio, F. and Nuernberg, P. and Stassen, H.H. and Deichmann, K.A.
Allergy 60 : 192-199. 1 January 2005

2002

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

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