Browse by Research Team

2024

Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater.
Wyler, E., Lauber, C., Manukyan, A., Deter, A., Quedenau, C., Teixeira Alves, L.G., Wylezich, C., Borodina, T., Seitz, S., Altmüller, J. and Landthaler, M.
Environment International 190 : 108875. August 2024

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

In situ Patch-seq analysis of microglia reveals a lack of stress genes as found in FACS-isolated microglia.
Bakina, O., Conrad, T., Mitic, N., Vidal, R.O., Obrusnik, T., Sai, S., Nolte, C., Semtner, M. and Kettenmann, H.
PLoS ONE 19 (7): e0302376. 11 July 2024

T- and L-type calcium channels maintain calcium oscillations in the murine zona glomerulosa.
Dinh, H.A., Volkert, M., Secener, A.K., Scholl, U.I. and Stölting, G.
Hypertension 81 (4): 811-822. April 2024

Activation of gp130 signaling in T cells drives T(H)17-mediated multi-organ autoimmunity.
Baumgartner, F., Bamopoulos, S.A., Faletti, L., Hsiao, H.J., Holz, M., Gonzalez-Menendez, I., Solé-Boldo, L., Horne, A., Gosavi, S., Özerdem, C., Singh, N., Liebig, S., Ramamoorthy, S., Lehmann, M., Demel, U., Kühl, A.A., Wartewig, T., Ruland, J., Wunderlich, F.T., Schick, M., Walther, W., Rose-John, S., Haas, S., Quintanilla-Martinez, L., Feske, S., Ehl, S., Glauben, R. and Keller, U.
Science Signaling 17 (824): eadc9662. 20 February 2024

The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression.
Jamil, M. A., Al-Rifai, R., Nuesgen, N., Altmüller, J., Oldenburg, J. and El-Maarri, O.
Frontiers in Genetics 15 : 1302685. 19 February 2024

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko, M., Elseed, M.A., Mohammed, I.N., Hamed, A.A., Abd Allah, A.S.I., Yahia, A., Siddig, R.A., Altmüller, J., Toliat, M.R., Elmahdi, E.O., Amin, M., Ahmed, E. A., Eltazi, I.Z.M., Elmugadam, F.A., Abdelgadir, W.A., Eltaraifee, E., Ibrahim, M.O.M., Ali, N.M.H., Malik, H.M., Babai, A.M., Bakhit, Y.H., Nürnberg, P., Ibrahim, M.E., Salih, M.A., Schubert, J., 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., Qvist, P., Kunz, S., Conrad, T., 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., Campe, J., Sunaga-Franze, D.Y., Verheyden, N.A., Ghimire, S., Meedt, E., Haslinger, D., Harenkamp, S., Staudenraus, D., Sauer, S., Kreft, A., Schubert, R., Lohoff, M., Krueger, A., Bonig, H., Chiocchetti, A.G., Zeiser, R., 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., Stratigi, K., Siametis, A., Goulielmaki, E., Akalestou-Clocher, A., Tsamardinos, I., Topalis, P., Austin, C., Bouwman, B.A.M., Crosetto, N., 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., Kleinenkuhnen, N., Parekh, S., Sandoval, T., Ziegenhain, C., Schneider, F., Giavalisco, P., Donahue, K.F., Vesting, A.J., Kirchner, M., Bozukova, M., Vossen, C., Altmüller, J., Wunderlich, T., Sandberg, R., Kondylis, V., 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., Meusemann, K., Martin, S., Hilgers, L., Spanke, T., Böhne, A., Herder, F., Mokodongan, D., Altmüller, J., Wowor, D., Misof, B., Nolte, A.W. and Schwarzer, J.
Genome Biology and Evolution 15 (8): evad138. 29 August 2023

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster, N., Erger, F., Kohl, S., Reusch, B., Wenzel, A., Walsh, S., Thiele, H., Becker, C., Franitza, M., Bartram, M.P., Kömhoff, M., Schumacher, L., Kukat, C., Borodina, T., Quedenau, C., Nürnberg, P., Rinschen, M.M., Driller, J.H., Pedersen, B.P., Schlingmann, K.P., Hüttel, B., Bockenhauer, D., 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., Lokau, J., Kespohl, B., Malik, N.A., Baig, S.M., Hartig, R., Behme, D., Schwab, R., Altmüller, J., Jameel, M., Mucha, S., Thiele, H., Tariq, M., Nürnberg, P., Erdmann, J. and Garbers, C.
Scientific Reports 13 (1): 13479. 18 August 2023

Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
Sholokh, A., Walter, S., Markó, L., McMurray, B.J., Sunaga-Franze, D.Y., Xu, M., Zühlke, K., Russwurm, M., Bartolomaeus, T.U.P., Langanki, R., Qadri, F., Heuser, A., Patzak, A., Forslund, S.K., Bähring, S., Borodina, T., Persson, P.B., Maass, P.G., 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., Guettler, J., Brugger, B.A., Stern, C., Forstner, D., Nonn, O., Fischer, C., Herse, F., Wernitznig, S., Hirschmugl, B., Wadsack, C. and Gauster, M.
Reproductive BioMedicine Online 47 (2): 103215. August 2023

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

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

iPSC-derived reactive astrocytes from patients with multiple-sclerosis protect cocultured neurons in inflammatory conditions.
Kerkering, J., Muinjonov, B., Rosiewicz, K.S., Diecke, S., Biese, C., Schiweck, J., Chien, C., Zocholl, D., Conrad, T., Paul, F., 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., Orgeur, M., Comai, G., Poehle-Kronnawitter, S., Fischer, C., Gloger, M., Dumas, C.E., Giesecke-Thiel, C., Sauer, S., Tajbakhsh, S., 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., Haslinger, D., Lindlar, S., Thiele, H., Bernsen, N., Zahnert, F., Reif, P.S., Balcik, Y., Au, P.Y.B., Josephson, C., Altmüller, J., Strzelczyk, A., Knake, S., Rosenow, F., Chiocchetti, A. and Klein, K.M.
Epilepsia Open 8 (2): 497-508. June 2023

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

The fate of oxidative strand breaks in mitochondrial DNA.
Trombly, G., Said, A.M., Kudin, A.P., Peeva, V., Altmüller, J., Becker, K., Köhrer, K., 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., Yigit, G., Li, Y., Altmüller, J., Büttel, H.M., Fiedler, B., Kretzschmar, C., Nürnberg, P., Seeger, J., Serpieri, V., Valente, E.M., Wollnik, B., 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., Conrad, T., Stöber, M.C., Xu, R., Giurgiu, M., Rodriguez-Fos, E., Kasack, K., Brückner, L., van Leen, E., Helmsauer, K., Dorado Garcia, H., Stefanova, M.E., Hung, K.L., Bei, Y., Schmelz, K., Lodrini, M., Mundlos, S., Chang, H.Y., Deubzer, H.E., Sauer, S., Eggert, A., Schulte, J.H., Schwarz, R.F., Haase, K., 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., Fassunke, J., Ernst, A., Schömig-Markiefka, B., Merkelbach-Bruse, S., Bartenhagen, C., Cartolano, M., Ackermann, S., Theissen, J., Blattner-Johnson, M., Jones, B., Schramm, K., Altmüller, J., Nürnberg, P., Ortmann, M., Berthold, F., Peifer, M., Büttner, R., Westermann, F., Schulte, J.H., Simon, T., 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., Al-Thihli, K., Surowy, H., Lüdecke, H.J., Drechsler, M., Yigit, G., Smorag, L., Hallak, B.A., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Abou Jamra, R., 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., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B. and Yigit, G.
Human Genetics 142 (4): 543-552. April 2023

Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
Mangiante, L., Alcala, N., Sexton-Oates, A., Di Genova, A., Gonzalez-Perez, A., Khandekar, A., Bergstrom, E.N., Kim, J., Liu, X., Blazquez-Encinas, R., Giacobi, C., Le Stang, N., Boyault, S., Cuenin, C., Tabone-Eglinger, S., Damiola, F., Voegele, C., Ardin, M., Michallet, M.C., Soudade, L., Delhomme, T.M., Poret, A., Brevet, M., Copin, M.C., Giusiano-Courcambeck, S., Damotte, D., Girard, C., Hofman, V., Hofman, P., Mouroux, J., Cohen, C., Lacomme, S., Mazieres, J., de Montpreville, V.T., Perrin, C., Planchard, G., Rousseau, N., Rouquette, I., Sagan, C., Scherpereel, A., Thivolet, F., Vignaud, J.M., Jean, D., Ilg, A.G.S., Olaso, R., Meyer, V., Boland-Auge, A., Deleuze, J.F., Altmuller, J., Nuernberg, P., Ibáñez-Costa, A., Castaño, J.P., Lantuejoul, S., Ghantous, A., Maussion, C., Courtiol, P., Hernandez-Vargas, H., Caux, C., Girard, N., Lopez-Bigas, N., Alexandrov, L.B., Galateau-Salle, F., 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., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Pérez-Palma, E., Hamer, H., Brandner, S., Rössler, K., Bien, C.G., Kalbhenn, T., Pieper, T., Hartlieb, T., Butler, E., Genovese, G., Becker, K., Altmüller, J., Niestroj, L.M., Ferguson, L., Busch, R.M., Nürnberg, P., Najm, I., Blümcke, I. and Lal, D.
Brain 146 (4): 1342-1356. April 2023

Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Strathmann, E.A., Hölker, I., Tschernoster, N., Hosseinibarkooie, S., Come, J., Martinat, C., Altmüller, J. 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., Pascual-Reguant, A., Koehler, R., Liebeskind, J., Liebheit, A., Bauherr, S., Philipsen, L., Dittmayer, C., Laue, M., von Manitius, R., Elezkurtaj, S., Durek, P., Heinrich, F., Heinz, G.A., Guerra, G.M., Obermayer, B., Meinhardt, J., Ihlow, J., Radke, J., Heppner, F.L., Enghard, P., Stockmann, H., Aschman, T., Schneider, J., Corman, V.M., Sander, L.E., Mashreghi, M.F., Conrad, T., Hocke, A.C., Niesner, R.A., 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., Bakina, O., Badillo Lisakowski, V., Olivares-Chauvet, P., Conrad, T., Gotthardt, M., 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., Keilholz, L., Conrad, T., Frentsch, M., Blau, I.W., Vuong, L., Lesch, S., Movasshagi, K., Tietze-Stolley, C., Loyal, L., Henze, L., Penack, O., Stervbo, U., Babel, N., Haas, S., Beule, D., Bullinger, L., Wittenbecher, Friedrich and Na, I.K.
Frontiers in Immunology 14 : 1114368. 10 February 2023

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

Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and development.
Freitag, K., Eede, P., Ivanov, A., Sterczyk, N., Schneeberger, S., Borodina, T., Sauer, S., Beule, D. and Heppner, F.L.
Communications Biology 6 (1): 40. 13 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., Wulf, A., Kachariya, N., Reuscher, S., Hühn, K., Silbern, I., Altmüller, J., Keller, M., Stehle, R., Zarnack, K., Sattler, M., 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., de Castro Cuadrat, R.R., Wyler, E., Wurmus, R., Deter, A., Quedenau, C., Dohmen, J., Faxel, M., Borodina, T., Blume, A., Freimuth, J., Meixner, M., Grau, J.H., Liere, K., Hackenbeck, T., Zietzschmann, F., Gnirss, R., Böckelmann, U., Uyar, B., Franke, V., Barke, N., Altmüller, J., Rajewsky, N., 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., Mücke, M.B., Pallien, T., Markó, L., Sholokh, A., Schächterle, C., Aydin, A., Kidd, A., Walter, S., Esmati, Y., McMurray, B.J., Lato, D.F., Sunaga-Franze, D.Y., Dierks, P.H., Flores, B.I.M., Walker-Gray, R., Gong, M., Merticariu, C., Zühlke, K., Russwurm, M., Liu, T., Batolomaeus, T.U.P., Pautz, S., Schelenz, S., Taube, M., Napieczynska, H., Heuser, A., Eichhorst, J., Lehmann, M., Miller, D.C., Diecke, S., Qadri, F., Popova, E., Langanki, R., Movsesian, M.A., Herberg, F.W., Forslund, S.K., Müller, D.N., Borodina, T., Maass, P.G., Bähring, S., Hübner, N., 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., Ellinghaus, D., Juzenas, S., Lerga-Jaso, J., Wendorff, M., Maya-Miles, D., Uellendahl-Werth, F., ElAbd, H., Rühlemann, M.C., Arora, J., Özer, O., Lenning, O.B., Myhre, R., Vadla, M.S., Wacker, E.M., Wienbrandt, L., Ortiz, A.B., de Salazar, A., Chercoles, A.G., Palom, A., Ruiz, A., Garcia-Fernandez, A.E., Blanco-Grau, A., Mantovani, A., Zanella, A., Holten, A.R., Mayer, A., Bandera, A., Cherubini, A., Protti, A., Aghemo, A., Gerussi, A., Ramirez, A., Braun, A., Nebel, A., Barreira, A., Lleo, A., Teles, A., Kildal, A.B., Biondi, A., Caballero-Garralda, A., Ganna, A., Gori, A., Glück, A., Lind, A., Tanck, A., Hinney, A., Nolla, A.C., Fracanzani, A.L., Peschuck, A., Cavallero, A., Dyrhol-Riise, A.M., Ruello, A., Julià, A., Muscatello, A., Pesenti, A., Voza, A., Rando-Segura, A., Solier, A., Schmidt, A., Cortes, B., Mateos, B., Nafria-Jimenez, B., Schaefer, B., Jensen, B., Bellinghausen, C., Maj, C., Ferrando, C., Horra, C., Quereda, C., Skurk, C., Thibeault, C., Scollo, C., Herr, C., Spinner, C.D., Gassner, C., Lange, C., Hu, C., Paccapelo, C., Lehmann, C., Angelini, C., Cappadona, C., Azuure, C., Bianco, C., Cea, C., Sancho, C., Hoff, D.A.L., Galimberti, D., Prati, D., Haschka, D., Jiménez, D., Pestaña, D., Toapanta, D., Muñiz-Diaz, E., Azzolini, E., Sandoval, E., Binatti, E., Scarpini, E., Helbig, E.T., Casalone, E., Urrechaga, E., Paraboschi, E.M., Pontali, E., Reverter, E., Calderón, E.J., Navas, E., Solligård, E., Contro, E., Arana-Arri, E., Aziz, F., Garcia, F., Sánchez, F.G., Ceriotti, F., Martinelli-Boneschi, F., Peyvandi, F., Kurth, F., Blasi, F., Malvestiti, F., Medrano, F.J., Mesonero, F., Rodriguez-Frias, F., Hanses, F., Müller, F., Hemmrich-Stanisak, G., Bellani, G., Grasselli, G., Pezzoli, G., Costantino, G., Albano, G., Cardamone, G., Bellelli, G., Citerio, G., Foti, G., Lamorte, G., Matullo, G., Baselli, G., Kurihara, H., Neb, H., My, I., Kurth, I., Hernández, I., Pink, I., Rojas, I., Galván-Femenia, I., Holter, J.C., Afset, J.E., Heyckendorf, J., Kässens, J., Damås, J.K., Rybniker, J., Altmüller, J., Ampuero, J., Martín, J., Erdmann, J., Banales, J.M., Badia, J.R., Dopazo, J., Schneider, J., Bergan, J., Barretina, J., Walter, J., Quero, J.H., Goikoetxea, J., Delgado, J., Guerrero, J.M., Fazaal, J., Kraft, J., Schröder, J., Risnes, K., Banasik, K., Müller, K.E., Gaede, K.I., Garcia-Etxebarria, K., Tonby, K., Heggelund, L., Izquierdo-Sanchez, L., Bettini, L.Rachele, Sumoy, L., Sander, L.E., Lippert, L.J., Terranova, L., Nkambule, L., Knopp, L., Gustad, L.T., Garbarino, L., Santoro, L., Téllez, L., Roade, L., Ostadreza, M., Intxausti, M., Kogevinas, M., Riveiro-Barciela, M., Berger, M.M., Schaefer, M., Niemi, M.E.K., Gutiérrez-Stampa, M.A., Carrabba, M., Figuera Basso, M.E., Valsecchi, M.G., Hernandez-Tejero, M., Vehreschild, M.J.G.T, Manunta, M., Acosta-Herrera, M., D'Angiò, M., Baldini, M., Cazzaniga, M., Grimsrud, M.M., Cornberg, M., Nöthen, M.M., Marquié, M., Castoldi, M., Cordioli, M., Cecconi, M., D'Amato, M., Augustin, M., Tomasi, M., Boada, M., Dreher, M., Seilmaier, M.J., Joannidis, M., Wittig, M., Mazzocco, M., Ciccarelli, M., Rodríguez-Gandía, M., Bocciolone, M., Miozzo, M., Ayo, N.I., Blay, N., Chueca, N., Montano, N., Braun, N., Ludwig, N., Marx, N., Martínez, N., Cornely, O.A., Witzke, O., Palmieri, O., Faverio, P., Preatoni, P., Bonfanti, P., Omodei, P., Tentorio, P., Castro, P., Rodrigues, P.M., España, P.P., Hoffmann, P., Rosenstiel, P., Schommers, P., Suwalski, P., Pablo, R., Ferrer, R., Bals, R., Gualtierotti, R., Gallego-Durán, R., Nieto, R., Carpani, R., Morilla, R., Badalamenti, S., Haider, S., Ciesek, S., May, S., Bombace, S., Marsal, S., Pigazzini, S., Klein, S., Pelusi, S., Wilfling, S., Bosari, S., Volland, S., Brunak, S., Raychaudhuri, S., Schreiber, S., Heilmann-Heimbach, S., Aliberti, S., Ripke, S., Dudman, S., Wesse, T., Zheng, T., Bahmer, T., Eggermann, T., Illig, T., Brenner, T., Pumarola, T., Feldt, T., Folseraas, T., Cejudo, T.G., Landmesser, U., Protzer, U., Hehr, U., Rimoldi, V., Monzani, V., Skogen, V., Keitel, V., Kopfnagel, V., Friaza, V., Andrade, V., Moreno, V., Albrecht, W., Peter, W., Poller, W., Farre, X., Yi, X., Wang, X., Khodamoradi, Y., Karadeniz, Z., Latiano, A., Goerg, S., Bacher, P., Koehler, P., Tran, F., Zoller, H., Schulte, E.C., Heidecker, B., Ludwig, K.U., Fernández, J., Romero-Gómez, M., Albillos, A., Invernizzi, P., Buti, M., Duga, S., Bujanda, L., Hov, J.R., Lenz, T.L., Asselta, R., Cid, R., Valenti, L., Karlsen, T.H., Cáceres, M. and Franke, A.
Human Molecular Genetics 31 (23): 3945-3966. 1 December 2022

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

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

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

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

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I., Khan, A., Noor Ul Ayan, H., Budde, B., Altmüller, J., Korejo, A.A., Nürnberg, G., Thiele, H., Tariq, M., Nürnberg, P. and Erdmann, J.
Journal of Human Genetics 11 October 2022

Candesartan does not activate PPAR(γ) and its target genes in early gestation trophoblasts.
Neuper, L., Kummer, D., Forstner, D., Guettler, J., Ghaffari-Tabrizi-Wizsy, N., Fischer, C., Juch, H., 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., Krawczyk, H.E., Jamra, R.A., Lin, S.J., Yigit, G., Hüning, I., Polo, A.M., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B.B., Busche, A., Biskup, S., Mendes, M.I., Smith, D.E.C., Salomons, G.S., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J.R., Li, Y., Zenker, M., Varshney, G.K., Hillen, H.S., Kratz, C.P. and Wollnik, B.
Human Mutation 43 (10): 1454-1471. October 2022

Reliable assessment of telomere maintenance mechanisms in neuroblastoma.
Meeser, A., Bartenhagen, C., Werr, L., Hellmann, A.M., Kahlert, Y., Hemstedt, N., Nürnberg, P., Altmüller, J., Ackermann, S., Hero, B., Simon, T., Peifer, M., 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., Erger, F., Altmüller, J., Wenzel, A., Thiele, H., Harth, A., Tschernoster, N., Lokhande, S., Joerres, A., Becker, J.U., Ekici, A., Huettel, B., Beck, B. and Weidemann, A.
Nephrology Dialysis Transplantation 37 (10): 1895-1905. 22 September 2022

Mutations in TAF8 cause a neurodegenerative disorder.
Wong, K.M., Jepsen, W.M., Efthymiou, S., Salpietro, V., Sanchez-Castillo, M., Yip, J., Kriouile, Y., Diegmann, S., Dreha-Kulaczewski, S., Altmüller, J., Thiele, H., Nürnberg, P., Toosi, M.B., Akhondian, J., Ghayoor Karimiani, E., Hummel-Abmeier, H., Huppke, B., Houlden, H., Gärtner, J., 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., Li, X., Naarmann-de Vries, I.S., Becker, C., Casper, R., Altmüller, J., Leuschner, F. and Dieterich, C.
Frontiers in Genetics 13 : 912572. 22 July 2022

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

Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry.
Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B.J., Dubois, S., Collin-Deschesnes, A.C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M.A., Allen, J., Altmüller, J., Arnold, N., Ausems, M.G.E.M., Berutti, R., Bolla, M.K., Bull, S., Carvalho, S., Cornelissen, S., Dufault, M.R., Dunning, A.M., Engel, C., Gehrig, A., Geurts-Giele, W.R.R., Gieger, C., Green, J., Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F.B.L., Hollestelle, A., Hooning, M.J., Horváth, J., Ikram, M.A., Kaulfuß, S., Keeman, R., Kuang, D., Luccarini, C., Maier, W., Martens, J.W.M., Niederacher, D., Nürnberg, P., Ott, C.E., Peters, A., Pharoah, P.D.P., Ramirez, A., Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stäbler, A., Strom, T.M., Sutter, C., Thiele, H., van Asperen, C.J., van der Kolk, L., van der Luijt, R.B., Volk, A.E., Wagner, M., Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B.H.F., Devilee, P., Tavtigian, S., Bader, G.D., Meindl, A., Goldgar, D.E., Andrulis, I.L., Schmutzler, R.K., Easton, D.F., Schmidt, M.K., 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., Borde, J., Möllenhoff, K., Kayali, M., Ernst, C., Gehrig, A., Sutter, C., Ramser, J., Niederacher, D., Horváth, J., Arnold, N., Meindl, A., Auber, B., Rump, A., Wang-Gohrke, S., Ritter, J., Hentschel, J., Thiele, H., Altmüller, J., Nürnberg, P., Rhiem, K., Engel, C., Wappenschmidt, B., Schmutzler, R.K., Hahnen, E. and Hauke, J.
Cancers 14 (13): 3292. 5 July 2022

Spermidine reduces neuroinflammation and soluble amyloid beta in an Alzheimer’s disease mouse model.
Freitag, K., Sterczyk, N., Wendlinger, S., Obermayer, B., Schulz, J., Farztdinov, V., Mülleder, M., Ralser, M., Houtman, J., Fleck, L., Braeuning, C., Sansevrino, R., Hoffmann, C., Milovanovic, D., Sigrist, S.J., Conrad, T., Beule, D., 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., Altmüller, J., Quedenau, C., Borodina, T., Nouailles, G., Teixeira Alves, L.G., Landthaler, M., Bieniara, M., 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., Violano, M., Müller, M., Patriki, D., Thibeault, C., Quedenau, C., Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H., Hinzmann, B., Beer, H.J., Wiggli, B., Siemann, S., Suttorp, N., Witzenrath, M., Hippenstiel, S., Skurk, C., Poller, W., Sander, L.E., Kurth, F., Borodina, T., Guettouche, T., 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., Zimmermann, K., Wagner, L.K., Dörr, D., Klose, C.S.N, Fischer, C., Jung, S., Yona, S., Hovav, A.H., Stenzel, W., Dommerich, S., Conrad, T., 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., Lackmann, J.W., Altmüller, J., Dieterich, C., 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., Erger, F., Walsh, P.R., McNicholas, B., Fistrek, M., Habbig, S., Schumacher, L., Folz-Donahue, K., Kukat, C., Toliat, M.R., Becker, C., Thiele, H., Kavanagh, D., Nürnberg, P., Beck, B. and Altmüller, J.
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., Escobar, H., Sunaga-Franze, D.Y., Sauer, S., 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., Sheffer, R., Daana, M., Li, Y., Kaygusuz, E., Mor-Shakad, H., Altmüller, J., Nürnberg, P., Douiev, L., Kaulfuss, S., Burfeind, P., 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., Lackmann, J.W., Kueckelmann, S., Altmüller, J., Dieterich, C., Boehm, V. and Gehring, N.H.
EMBO Journal 41 (10): e109191. 16 May 2022

RNA modification mapping with JACUSA2.
Piechotta, M., Naarmann-de Vries, I.S., Wang, Q., 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., Stachelscheid, J., Bley, N., Oberbeck, S., Otte, M., Müller, T.A., Wahnschaffe, L., Glaß, M., Ommer, K., Franitza, M., Gathof, B., Altmüller, J., Hallek, M., Auguin, D., Hüttelmaier, S., 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., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S.W., Rudnik-Schöneborn, S., 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., Elcioglu, N.H., Martinez Grijalva, C., Aras, S., Großmann, N., Praulich, I., Altmüller, J., Kaulfuß, S., Li, Y., Nürnberg, P., Burfeind, P., 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., Woestefeld, J., Döpper, H., Bozet, M., Brenzel, A., Altmüller, J., Kilpert, F., Lohmann, D., 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., Mocanu, I.D., Abdullah, U., Höhne, W., Altmüller, J., Makhdoom, E.U.H., Thiele, H., Baig, S.M., Nürnberg, P., 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., Himmerkus, N., Meoli, L., Fromm, A., Sewerin, S., Kriuchkova, N., Nagel, O., Ladilov, Y., Krug, S., Quintanova, C., Stumpp, M., Garbe-Schönberg, D., Westernströer, U., Merkel, C., Brinkhus, M., Altmüller, J., Schweiger, M., Mueller, D., Mutig, K., Morawski, M., Halbritter, J., Milatz, S., Bleich, M. and Günzel, D.
Journal of the American Society of Nephrology 33 (4): 699-717. April 2022

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

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

MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Reusch, B., Bartram, M.P., Dafinger, C., Palacio-Escat, N., Wenzel, A., Fenton, R.A., Saez-Rodriguez, J., Schermer, B., Benzing, T., Altmüller, J., 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., Roth, O., Nolte, A.W., Schüller, A., Spanke, T., Flury, J.M., Utama, I.V., Altmüller, J., Wowor, D., Misof, B., Herder, F., Böhne, A. and Schwarzer, J.
Current Biology 32 (3): 715-724. 7 February 2022

Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Schmidt, J., Schreiber, G., Altmüller, J., Thiele, H., Nürnberg, P., Li, Y., Kaulfuß, S., Funke, R., Wilken, B., 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., Chentli, F., Altmüller, J., Bögershausen, N., Nürnberg, P., Yigit, G., Li, Y. and Wollnik, B.
American Journal of Medical Genetics A 188 (2): 606-612. February 2022

A growth factor-expressing macrophage subpopulation orchestrates regenerative inflammation via GDF-15.
Patsalos, A., Halasz, L., Medina-Serpas, M.A., Berger, W.K., Daniel, B., Tzerpos, P., Kiss, M., Nagy, G., Fischer, C., Simandi, Z., 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., Rading, K., Campbell, S.E., Thiele, H., Altmüller, J., Gordon, L.B. and Kubisch, C.
American Journal of Medical Genetics A 188 (1): 216-223. January 2022

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

2021

Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer.
Schaufler, D., Ast, D.F., Tumbrink, H.L., Abedpour, N., Maas, L., Schwäbe, A.E., Spille, I., Lennartz, S., Fassunke, J., Aldea, M., Besse, B., Planchard, D., Nogova, L., Michels, S., Kobe, C., Persigehl, T., Westphal, T., Koleczko, S., Fischer, R., Weber, J.P., Altmüller, J., Thomas, R.K., Merkelbach-Bruse, S., Gautschi, O., Mezquita, L., Büttner, R., Wolf, J., Peifer, M., Brägelmann, J., 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., Goergens, J., Pochechueva, T., Kotter, A., Schwenzer, N., Sitte, M., Werner, G., Altmueller, J., Thiele, H., Nürnberg, P., Isensee, J., Li, Y., Müller, C., Leube, B., Reinhardt, H.C., Hucho, T., Salinas, G., Helm, M., Jachimowicz, R.D., Wieczorek, D., Kohl, T., Lehnart, S.E., Yigit, G. and Wollnik, B.
Human Genetics 140 (12): 1679-1693. December 2021

Chromothripsis followed by circular recombination drives oncogene amplification in human cancer.
Rosswog, C., Bartenhagen, C., Welte, A., Kahlert, Y., Hemstedt, N., Lorenz, W., Cartolano, M., Ackermann, S., Perner, S., Vogel, W., Altmüller, J., Nürnberg, P., Hertwig, F., Göhring, G., Lilienweiss, E., Stütz, A.M., Korbel, J.O., Thomas, R.K., 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., Keilwagen, J., Hoff, K.J., Steffen, R., Altmüller, J., Oettler, J. and Schrader, L.
Molecular Ecology 30 (23): 6211-6228. December 2021

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne, C., Peters, S., Cartolano, M., Horpaopan, S., Grimm, C., Altmüller, J., Sommer, A.K., Hillmer, A.M., Thiele, H., Odenthal, M., Möslein, G., Adam, R., Sivalingam, S., Kirfel, J., Schweiger, M.R., Peifer, M., Spier, I. and Aretz, S.
PLoS ONE 16 (11): e0259185. 29 November 2021

Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and aging.
Freitag, K., Eede, P., Ivanov, A., Schneeberger, S., Borodina, T., Sauer, S., 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., Stratigi, K., Goulielmaki, E., Niotis, G., Akalestou-Clocher, A., Gkirtzimanaki, K., Zafeiropoulos, A., Altmüller, J., Topalis, P. and Garinis, G.A.
Science Advances 7 (47): eabj5769. 19 November 2021

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

A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover.
Boileau, E., Altmüller, J., 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., Maroofian, R., Çavdarlı, B., Riccardi, F., Field, M., Banka, S., Bubshait, D.K., Li, Y., Hertecant, J., Baig, S.M., Dyment, D., Efthymiou, S., Abdullah, U., Makhdoom, E.U.H., Ali, Z., Scherf de Almeida, T, Molinari, F., Mignon-Ravix, C., Chabrol, B., Antony, J., Ades, L., Pagnamenta, A.T., Jackson, A., Douzgou, S., Beetz, C., Karageorgou, V., Vona, B., Rad, A., Baig, J.M., Sultan, T., Alvi, J.R., Maqbool, S., Rahman, F., Toosi, M.B., Ashrafzadeh, F., Imannezhad, S., Karimiani, E.G., Sarwar, Y., Khan, S., Jameel, M., Noegel, A.A., Budde, B., Altmüller, J., Motameny, S., Höhne, W., Houlden, H., Nürnberg, P., Wollnik, B., Villard, L., Alkuraya, F.S., Osmond, M., 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., Jouret, F., Shen, K., Nigam, A., Arjona, F., Dafinger, C., Houillier, P., Jones, D., Kleinerüschkamp, F., Oh, J., Godefroid, N., Eltan, M., Güran, T., Burtey, S., Parotte, M.C., König, J., Braun, A., Bos, C., Serra, M.I., Rehmann, H., Zwartkruis, F., Renkema, K., Klingel, K., Schulze-Bahr, E., Schermer, B., Bergmann, C., Altmüller, J., Thiele, H., Beck, B., Dahan, K., Sabatini, D., Liebau, M., Vargas-Poussou, R., Knoers, N., 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., Übelmesser, N., Josipovic, N., Forte, G., Slotman, J.A., Chiang, M., Gothe, H.J., Gusmao, E.G., Becker, C., Altmüller, J., Houtsmuller, A.B., Roukos, V., Wendt, K.S., Marenduzzo, D. and Papantonis, A.
Science Advances 7 (43): eabg8205. 22 October 2021

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

A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family.
Waseem, S.S., Moawia, A., Budde, B., Tariq, M., Khan, A., Ali, Z., Khan, S., Iqbal, M., Malik, N.A., Haque, S.U., Altmüller, J., Thiele, H., Hussain, M.S., Cirak, S., 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., Lozic, B., Tagoe, J., Hoffer, M.J.V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P.Y.B., Denecke, J., Bijlsma, E.K. and Lessel, D.
Neurogenetics 22 (4): 263-269. October 2021

Human brain organoids assemble functionally integrated bilateral optic vesicles.
Gabriel, E., Albanna, W., Pasquini, Gi., Ramani, A., Josipovic, N., Mariappan, A., Schinzel, F., Karch, C.M., Bao, G., Gottardo, M., Suren, A.A., Hescheler, J., Nagel-Wolfrum, K., Persico, V., Rizzoli, S.O., Altmüller, J., Riparbelli, M.G., Callaini, G., Goureau, O., Papantonis, A., Busskamp, V., 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., Suwalski, P., Holtgrewe, M., Rakitko, A., Thibeault, C., Müller, M., Patriki, D., Quedenau, C., Krüger, U., Ilinsky, V., Popov, I., Balnis, J., Jaitovich, A., Helbig, E.T., Lippert, L.J., Stubbemann, P., Real, L.M., Macías, J., Pineda, J.A., Fernandez-Fuertes, M., Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H., Hinzmann, B., Salvo, M., Blueher, A., Siemann, S., Jurisic, S., Beer, J.H., Rutishauser, J., Wiggli, B., Schmid, H., Danninger, K., Binder, R., Corman, V.M., Mühlemann, B., Arjun Arkal, R., Fragiadakis, G.K., Mick, E., Calfee, C.S., Erle, D.J., Hendrickson, C.M., Kangelaris, K.N., Krummel, M.F., Woodruff, P.G., Langelier, C.R., Venkataramani, U., García, F., Zyla, J., Drosten, C., Braun, A., Jones, T.C., Suttorp, N., Witzenrath, M., Hippenstiel, S., Zemojtel, T., Skurk, C., Wolfgang, P., Borodina, T., Ripke, S., Sander, L.E., Beule, D., Landmesser, U., Guettouche, T., Kurth, F. and Heidecker, B.
EClinicalMedicine 40 : 101099. October 2021

MFSD2A-associated primary microcephaly - expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller, K., Yigit, G., Martínez Grijalva, C., Altmüller, J., Thiele, H., Nürnberg, P., Elcioglu, N.H., Yeter, B., Hehr, U., Stein, A., Della Marina, A., Köninger, A., Depienne, C., Kaiser, F.J., Wollnik, B. and Kuechler, A.
European Journal of Medical Genetics 64 (10): 104310. October 2021

Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage.
Bubb, K., Holzer, T., Nolte, J.L., Krüger, M., Wilson, R., Schlötzer-Schrehardt, U., Brinckmann, J., Altmüller, J., Aszodi, A., Fleischhauer, L., Clausen-Schaumann, H., 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., Grimm, C., Herling, C.D., Lienhard, M., Königs, A., Timmermann, B., Altmüller, J., Mücke, O., Reinhardt, H.C., Plass, C., Herwig, R., Hallek, M. and Schweiger, M.R.
International Journal of Molecular Sciences 22 (17): 9337. 1 September 2021

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

Nuclei isolation from adult mouse kidney for single-nucleus RNA-sequencing.
Leiz, J., Hinze, C., Boltengagen, A., Braeuning, C., Kocks, C., 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., Rosignoli, S., Guo, L., Vardanega, I., Imani, J., Altmüller, J., Milner, S.G., Balzano, R:, Nagel, K.A., Pflugfelder, D., Forestan, C., Bovina, R., Koller, R., Stöcker, T.G., Mascher, M., Simmonds, J., Uauy, C., Schoof, H., Tuberosa, R., Salvi, S. and Hochholdinger, F.
Proceedings of the National Academy of Sciences of the United States of America 118 (35): e2101526118. 31 August 2021

Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
Theobald, S.J., Simonis, A., Georgomanolis, T., Kreer, C., Zehner, M., Eisfeld, H.S., Albert, M.C., Chhen, J., Motameny, S., Erger, F., Fischer, J., Malin, J.J., Gräb, J., Winter, S., Pouikli, A., David, F., Böll, B., Koehler, P., Vanshylla, K., Gruell, H., Suárez, I., Hallek, M., Fätkenheuer, G., Jung, N., Cornely, O.A., Lehmann, C., Tessarz, P., Altmüller, J., Nürnberg, P., Kashkar, H., Klein, F., 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., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J., von Ameln, S., Lorenz, B., Neugebauer, A., 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., Boehm, V., Lackmann, J.W., Altmüller, J., 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., Haas, F.B., Parzefall, K., Panzer, S., Schermuly, J., Altmüller, J., Engelsdorf, T., Terpitz, U., Rensing, S.A., Kiontke, S. and Batschauer, A.
Fungal Genetics and Biology 152 : 103570. July 2021

Cystatin M/E variant causes autosomal dominant keratosis follicularis spinulosa decalvans by dysregulating cathepsins L and V.
Eckl, K.M., Gruber, R., Brennan, L., Marriott, A., Plank, R., Moosbrugger-Martinz, V., Blunder, S., Schossig, A., Altmüller, J., Thiele, H., Nürnberg, P., Zschocke, J., 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., Miroshnikova, Y.A., Ghatak, S., Chacón-Martínez, C.A., Morgner, J., Li, X., Atanassov, I., Altmüller, J., Birk, D.E., Koch, M., Bloch, W., Bartusel, M., Niessen, C.M., 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., Schommers, P., Stecher, M., Dewald, F., Gieselmann, L., Gruell, H., Horn, C., Vanshylla, K., Cristanziano, V.D., Osebold, L., Roventa, M., Riaz, T., Tschernoster, N., Altmueller, J., Rose, L., Salomon, S., Priesner, V., Luers, J.C., Albus, C., Rosenkranz, S., Gathof, B., Fätkenheuer, G., Hallek, M., Klein, F., Suárez, I. and Lehmann, C.
The Lancet Regional Health - Europe 6 : 100122. July 2021

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

SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
Boehm, V., Kueckelmann, S., Gerbracht, J.V., Kallabis, S., Britto-Borges, T., Altmüller, J., Krüger, M., 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., Schultze, H., Shastry, K.L., Manamohan, S., Mukherjee, S., Garg, V., Sarveswara, R., Händler, K., Pickkers, P., Aziz, N.A., Ktena, S., Tran, F., Bitzer, M., Ossowski, S., Casadei, N., Herr, C., Petersheim, D., Behrends, U., Kern, F., Fehlmann, T., Schommers, P., Lehmann, C., Augustin, M., Rybniker, J., Altmüller, J., Mishra, N., Bernardes, J.P., Krämer, B., Bonaguro, L., Schulte-Schrepping, J., De Domenico, E., Siever, C., Kraut, M., Desai, M., Monnet, B., Saridaki, M., Siegel, C.M., Drews, A., Nuesch-Germano, M., Theis, H., Heyckendorf, J., Schreiber, S., Kim-Hellmuth, S., Nattermann, J., Skowasch, D., Kurth, I., Keller, A., Bals, R., Nürnberg, P., Rieß, O., Rosenstiel, P., Netea, M.G., Theis, F., Mukherjee, S., Backes, M., Aschenbrenner, A.C., Ulas, T., Breteler, M.M.B., Giamarellos-Bourboulis, E.J., Kox, M., Becker, M., Cheran, S., Woodacre, M.S., Goh, E.L. and Schultze, J.L.
Nature 594 (7862): 265-270. 10 June 2021

HMGB1 coordinates SASP-related chromatin folding and RNA homeostasis on the path to senescence.
Sofiadis, K., Josipovic, N., Nikolic, M., Kargapolova, Y., Übelmesser, N., Varamogianni-Mamatsi, V., Zirkel, A., Papadionysiou, I., Loughran, G., Keane, J., Michel, A., Gusmao, E.G., Becker, C., Altmüller, J., Georgomanolis, T., 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., Tsekrekou, M., Batsiotos, N., Ascensão-Ferreira, M., Ledaki, E., Stratigi, K., Chatzinikolaou, G., Topalis, P., Kosteas, T., Altmüller, J., Demmers, J.A., 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., Rehimi, R., Kayserili, H., Brühl, J., Sofiadis, K., Zirkel, A., Palikyras, S., Mizi, A., Li, Y., Yigit, G., Hoischen, A., Frank, S., Russ, N., Trautwein, J., van Bon, B., Gilissen, C., Laugsch, M., Gusmao, E.G., Josipovic, N., Altmüller, J., Nürnberg, P., Längst, G., Kaiser, F.J., Watrin, E., Brunner, H., Rada-Iglesias, A., Kurian, L., Wollnik, B., 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., Akpulat, U., Özdemir, Ö., Yis, U., Güngör, S., Talim, B., Diniz, G., Baydan, F., Thiele, H., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (6): 1678-1690. 14 May 2021

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

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

Maternal angiotensin increases placental leptin in early gestation via an alternative renin-angiotensin system pathway: suggesting a link to preeclampsia.
Nonn, O., Fischer, C., Geisberger, S., El-Heliebi, A., Kroneis, T., Forstner, D., Desoye, G., Staff, A.C., Sugulle, M., Dechend, R., Pecks, U., Kollmann, M., Stern, C., Cartwright, J.E., Whitley, G.S., Thilaganathan, B., Wadsack, C., Huppertz, B., 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., Waseem, S.S., Iqbal, M., Abdullah, U., Hussain, G., Asif, M., Budde, B., Höhne, W., Tinschert, S., Saadi, S.M., Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E., Khan, A., Jameel, M., Khan, S., Tariq, M., Anjum, I., Altmüller, J., Thiele, H., Höning, S., Baig, S.M., 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., Fogo, M.S., Pinto, B.G.G., Alves, A.Y., Suzuki, A.M., Morales, A.G., Ezquina, S., Sosa, O.J., Sutton, G.J., Sunaga-Franze, D.Y., Bueno, A.P., Seabra, G., Sardinha, L., Costa, S.S., Rosenberg, C., Zachi, E.C., Sertie, A.L., Martins-de-Souza, D., Reis, E.M., Voineagu, I. and Passos-Bueno, M.R.
Molecular Psychiatry 26 (5): 1589-1605. May 2021

The neuroinflammatory interleukin-12 signaling pathway drives Alzheimer's disease-like pathology by perturbing oligodendrocyte survival and neuronal homeostasis.
Schneeberger, S., Kim, S.J., Eede, P., Boltengagen, A., Braeuning, C., Andreadou, M., Becher, B., Karaiskos, N., Kocks, C., 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., Paketci, C., Altmueller, J., Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E.G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, Br. 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., Yigit, G., Altmüller, J., Nürnberg, P., Czeschik, J.C., Wollnik, B., Bögershausen, N., Burfeind, P., Wieczorek, D., Kaiser, F., Roos, A., Kölbel, H., Schara-Schmidt, U. and Kuechler, A.
American Journal of Medical Genetics A 185 (4): 1216-1221. April 2021

A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak, A., Diegmann, S., Dreha-Kulaczewski, S., Wiśniewski, J., Duda, P., Ohlenbusch, A., Huppke, B., Henneke, M., Höhne, W., Altmüller, J., Thiele, H., Nürnberg, P., Rakus, D., Gärtner, J. and Huppke, P.
Brain Communications 3 (2): fcab036. 11 March 2021

CALINCA - a novel pipeline for the identification of lncRNAs in podocyte disease.
Talyan, S., Filipów, S., Ignarski, M., Smieszek, M., Chen, H., Kühne, L., Butt, L., Göbel, H., Hoyer-Allo, K.J.R., Koehler, F.C., Altmüller, J., Brinkkötter, P., Schermer, B., Benzing, T., Kann, M., Müller, R.U. and Dieterich, C.
Cells 10 (3): 692. March 2021

MTBP phosphorylation controls DNA replication origin firing.
Ferreira, P., Höfer, V., Kronshage, N., Marko, A., Reusswig, K.U., Tetik, B., Dießel, C., Köhler, K., Tschernoster, N., Altmüller, J., Schulze, N., 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., Majmundar, A.J., Khan, K., Lim, T.Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D.F., Aggarwal, V.S., Bier, L.E., Heinzen, E.L., Onuchic-Whitford, A.C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T.M., Klämbt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B.B., Altmüller, J., Benz, M.R., Yano, S., Mikati, M.A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A.S., Martinez-Agosto, J.A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A.V., Parboosingh, J.S., Innes, A.M., Bierzynska, A., Koziell, A.B., Muorah, M., Saleem, M.A., Hoefele, J., Riedhammer, K.M., Gharavi, A.G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E.G., O'Donnell-Luria, A., Rehm, H.L., Mane, S., D'Agati, V.D., Pollak, M.R., Ghiggeri, G.M., Lifton, R.P., Goldstein, D.B., Davis, E.E., Hildebrandt, F. and Sanna-Cherchi, S.
American Journal of Human Genetics 108 (2): 357-367. 4 February 2021

hiPSC-derived epidermal keratinocytes from ichthyosis patients show altered expression of cornification markers.
Lima Cunha, D., Oram, A., Gruber, R., Plank, R., Lingenhel, A., Gupta, M.K., Altmüller, J., Nürnberg, P., Schmuth, M., Zschocke, J., Šarić, T., 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., Li, Y., Yigit, G., Altmüller, J., Bader, I., Bevot, A., Biskup, S., Dreha-Kulaczewski, S., Korenke, C.G., Kottke, R., Mayr, J.A., Preisel, M., Toelle, S.P., Wente-Schulz, S., Wortmann, S.B., Hahn, H., Boltshauser, E., Uhmann, A., Wollnik, B. and Brockmann, K.
Genetics in Medicine 23 (2): 341-351. February 2021

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

Dissecting herpes simplex virus 1-induced host shutoff at the RNA level.
Friedel, C.C., Whisnant, A.W., Djakovic, L., Rutkowski, A.J., Friedl, M.S., Kluge, M., Williamson, J.C., Sai, S., Vidal, R.O., Sauer, S., Hennig, T., Grothey, A., Milić, A., Prusty, B.K., Lehner, P.J., Matheson, N.J., Erhard, F. and Dölken, L.
Journal of Virology 95 (3): e01399-20. 13 January 2021

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

An autochthonous mouse model of Myd88- and BCL2-driven diffuse large B-cell lymphoma reveals actionable molecular vulnerabilities.
Flümann, R., Rehkämper, T., Nieper, P., Pfeiffer, P., Holzem, A., Klein, S., Bhatia, S., Kochanek, M., Kisis, I., Pelzer, B.W., Ahlert, H., Hauer, J., da Palma Guerreiro, A., Ryan, J.A., Reimann, M., Riabinska, A., Wiederstein, J., Krüger, M., Deckert, M., Altmüller, J., Klatt, A.R., Frenzel, L.P., Pasqualucci, L., Béguelin, W., Melnick, A.M., Sander, S., Montesinos-Rongen, M., Brunn, A., Lohneis, P., Büttner, R., Kashkar, H., Borkhardt, A., Letai, A., Persigehl, T., Peifer, M., Schmitt, C.A., 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., Özdemir, Ö., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dötsch, J., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (1): 90-96. January 2021

2020

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

Noncanonical effector functions of the T-memory-like T-PLL cell are shaped by cooperative TCL1A and TCR signaling.
Oberbeck, S., Schrader, A., Warner, K., Jungherz, D., Crispatzu, G., von Jan, J., Chmielewski, M., Ianevski, A., Diebner, H.H., Mayer, P., Kondo Ados, A., Wahnschaffe, L., Braun, T., Müller, T.A., Wagle, P., Bouska, A., Neumann, T., Pützer, S., Varghese, L., Pflug, N., Thelen, M., Makalowski, J., Riet, N., Göx, H.J.M, Rappl, G., Altmüller, J., Kotrová, M., Persigehl, T., Hopfinger, G., Hansmann, M.L., Schlößer, H., Stilgenbauer, S., Dürig, J., Mougiakakos, D., von Bergwelt-Baildon, M., Roeder, I., Hartmann, S., Hallek, M., Moriggl, R., Brüggemann, M., Aittokallio, T., Iqbal, J., Newrzela, S., 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., Wieland, B., Ohlenbusch, A., Yigit, G., Altmüller, J., Boltshauser, E., Dörk, T. and Brockmann, K.
American Journal of Medical Genetics A 182 (12): 2971-2975. December 2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R., Berger, H., Till, K., Salinas, G., Sturm, M., Altmüller, J., Nürnberg, P., Thiele, H., Funke, R., Apeshiotis, N., Langen, H., Wollnik, B., 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., Ntini, E., Lang, B., Cozzuto, L., Andersen, J.B., Marquardt, J.U., Ponomarenko, J., Tartaglia, G.G. and Vang Orom, U.A.
RNA 26 (11): 1726-1730. November 2020

Intestinal expression of toll-like receptor gene changes early after gastric bypass surgery and association with type 2 diabetes remission.
Sala, P., Torrinhas, R.S.M.M., Fonseca, D.C., Machado, N.M., Singer, J., Singer, P., Ravacci, G.R., Belarmino, G., Ferreira, B.A.M., Marques, M., Ishida, R.K., Guarda, I.F.M.S., de Moura, E.G.H., Sakai, P., Santo, M.A., Sunaga, D.Y., Heymsfield, S.B., Bezerra, D.P.D.S., 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., Li, D., Nair, D., Alaimo, J.T., Alders, M., Altmüller, J., Barakat, T.S., Bebin, E.M., Bertsch, N.L., Blackburn, P.R., Blesson, A., Bouman, A.M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G.M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L.E., Gunderson, L.B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E.W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J.L., Milunsky, J.M., Napier, M.P., Ortiz-Gonzalez, X.R., Pichurin, P.N., Pinner, J., Powis, Z., Prasad, C., Radio, F.C., Rasmussen, K.J., Renaud, D.L., Rush, E.T., Saunders, C., Selcen, D., Seman, A.R., Shinde, D.N., Smith, E.D., Smol, T., Snijders Blok, L., Stoler, J.M., Tang, S., Tartaglia, M., Thompson, M.L., van de Kamp, J.M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E.H., Zampino, G., 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., Brunn, A., Tuchscherer, A., Borchmann, P., Schorb, E., Kasenda, B., Altmüller, J., Illerhaus, G., Ruge, M.I., Maarouf, M., Büttner, R., Hansmann, M.L., Hallek, M., Prinz, M., Siebert, R. and Deckert, M.
Journal of Molecular Diagnostics 22 (10): 1300-1307. October 2020

Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies.
Hackl, A., Erger, F., Skerka, C., Wenzel, A., Tschernoster, N., Ehren, R., Burgmaier, K., Riehmer, V., Licht, C., Kirschfink, M., Weber, L.T., Altmueller, J., 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., Alonso, G., Georgana, I., El-Jesr, M., Martín, R., Shair, K.H.Y., Fischer, C., Sauer, S., 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., Kleinsorge, M., Roos, L., Yigit, G., Li, Y., Barbarics, B., El-Battrawy, I., Lan, H., Tiburcy, M., Hindmarsh, R., Lenz, C., Salinas, G., Diecke, S., Müller, C., Adham, I., Altmüller, J., Nürnberg, P., Paul, T., Zimmermann, W.H., Hasenfuss, G., Wollnik, B. and Cyganek, L.
Circulation 142 (11): 1059-1076. 15 September 2020

Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity.
Koch, C., Kuske, A., Joosse, S.A., Yigit, G., Sflomos, G., Thaler, S., Smit, D.J., Werner, S., Borgmann, K., Gärtner, S., Mossahebi Mohammadi, P., Battista, L., Cayrefourcq, L., Altmüller, J., Salinas-Riester, G., Raithatha, K., Zibat, A., Goy, Y., Ott, L., Bartkowiak, K., Tan, T.Z., Zhou, Q., Speicher, M.R., Müller, V., Gorges, T.M., Jücker, M., Thiery, J.P., Brisken, C., Riethdorf, S., 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., Boehm, V., Britto-Borges, T., Kallabis, S., Wiederstein, J.L., Ciriello, S., Aschemeier, D.U., Krüger, M., Frese, C.K., Altmüller, J., 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., Shang, F., Wang, X., Fanti, A.K., Greco, A., Busch, K., Klapproth, K., Zhang, Q., Quedenau, C., Sauer, S., Feyerabend, T.B., Höfer, T. and Rodewald, H.R.
Cell Stem Cell 27 (3): 383-395. 3 September 2020

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
Sauvigny, T., Alawi, M., Krause, L., Renner, S., Spohn, M., Busch, Al., Kolbe, V., Altmüller, J., Löscher, B.S., Franke, A., Brockmann, C., Lieb, W., Westphal, M., Schmidt, N.O., 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., Plumbom, I., Alcobendas, M., Vidal, R. and Sauer, S.
Communications Biology 3 (1): 439. 14 August 2020

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

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

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde, B.S., Aly, M.A., Mohamed, M.R., Breß, A., Altmüller, J., Motameny, S., Kawalia, A., Thiele, H., Konrad, K., Becker, C., Toliat, M.R., Nürnberg, G., Sayed, E.A.F., Mohamed, E.S., Pfister, M. and Nürnberg, P.
Clinical Genetics 98 (1): 32-42. July 2020

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

Benchmarking single-cell RNA-sequencing protocols for cell atlas projects.
Mereu, E., Lafzi, A., Moutinho, C., Ziegenhain, C., McCarthy, D.J., Álvarez-Varela, A., Batlle, E., Sagar, Grün, D., Lau, J.K., Boutet, S.C., Sanada, C., Ooi, A., Jones, R.C., Kaihara, K., Brampton, C., Talaga, Y., Sasagawa, Y., Tanaka, K., Hayashi, T., Braeuning, C., Fischer, C., Sauer, S., Trefzer, T., Conrad, C., Adiconis, X., Nguyen, L.T., Regev, A., Levin, J.Z., Parekh, S., Janjic, A., Wange, L.E., Bagnoli, J.W., Enard, W., Gut, M., Sandberg, R., Nikaido, I., Gut, I., 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., Plum, P.S., Velazquez Camacho, O., Folz-Donahue, K., Thelen, M., Garcia-Marquez, I., Wölwer, C., Büsker, S., Wittig, J., Franitza, M., Altmüller, J., Löser, H., Schlößer, H., Büttner, R., Schröder, W., Bruns, C.J., Alakus, H., Quaas, A., 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., Whisnant, A.W., Djakovic, L., Rutkowski, A.J., Friedl, M.S., Kluge, M., Williamson, J.C., Sai, S., Oliveira Vidal, R., Sauer, S., Hennig, T., Prusty, B., Lehner, P.J., Matheson, N.J., 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., Postmus, D., Wyler, E., Fischer, C., Jansen, J., Meixenberger, K., Vitcetz, S.N., Sohn, M., Sauer, S., Bannert, N., 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., Hauke, J., Loibl, S., Möbus, V., Denkert, C., Fasching, P.A., Kayali, M., Ernst, C., Weber-Lassalle, N., Hanusch, C., Tesch, H., Müller, V., Altmüller, J., Thiele, H., Untch, M., Lübbe, K., Nürnberg, P., Rhiem, K., Furlanetto, J., Lederer, B., Jackisch, C., Nekljudova, V., Schmutzler, R.K., Schneeweiss, A. and Hahnen, E.
JAMA Oncology 6 (5): 744-748. May 2020

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

The integrated RNA landscape of renal preconditioning against ischemia-reperfusion injury.
Johnsen, M., Kubacki, T., Yeroslaviz, A., Späth, M.R., Mörsdorf, J., Göbel, H., Bohl, K., Ignarski, M., Meharg, C., Habermann, B., Altmüller, J., Beyer, A., Benzing, T., Schermer, B., Burst, V. and Müller, R.U.
Journal of the American Society of Nephrology 31 (4): 716-730. April 2020

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

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M., Fischer, C., Urzi, A., Vidal, R., Kunz, S., Ruffault, P.L., Kabuss, L., Hube, I., Gazzerro, E., Birchmeier, C., Spuler, S., 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., Funke, R., Wilken, B., Knaus, A., Altmüller, J., Nürnberg, P., Li, Y., Wollnik, B., Burfeind, P. and Pauli, S.
Molecular Syndromology 11 (1): 30-37. February 2020

Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage.
Goulielmaki, E., Ioannidou, A., Tsekrekou, M., Stratigi, K., Poutakidou, I.K., Gkirtzimanaki, K., Aivaliotis, M., Evangelou, K., Topalis, P., Altmüller, J., Gorgoulis, V.G., 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., Markova, M., Weber, D., Sucher, S., Hornemann, S., Rudovich, N., Raila, J., Sunaga-Franze, D., Sauer, S., Rohn, S., Pfeiffer, A.F.H. and Grune, T.
Redox Biology 29 (2): 101397. January 2020

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

2019

A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant angiosperms.
Kivivirta, K., Herbert, D., Lange, M., Beuerlein, K., Altmüller, J. and Becker, A.
Plant Methods 15 : 151. 16 December 2019

Transcriptional heterogeneity of fibroblasts is a hallmark of the aging heart.
Vidal, R., Wagner, J.U.G., Braeuning, C., Fischer, C., Patrick, R., Tombor, L., Muhly-Reinholz, M., John, D., Kliem, M., Conrad, T., Guimarães-Camboa, N., Harvey, R., 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., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N.T., Aprea, I., Dougherty, G.W., Pennekamp, P., Kaiser, T., Mitchison, H.M., Hogg, C., Carr, S.B., Zariwala, M.A., Ferkol, T., Leigh, M.W., Davis, S.D., Atkinson, J., Dutcher, S.K., Knowles, M.R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D.J. and Omran, H.
American Journal of Human Genetics 105 (5): 1030-1039. 7 November 2019

Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj, L.M., May, P., Artomov, M., Kobow, K., Coras, R., Pérez-Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M.J., Klein, K.M., Beschorner, R., Weber, Y.G., Blümcke, I. and Lal, D.
European Journal of Human Genetics 27 (11): 1738-1744. November 2019

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian, R.T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A.F., Buratti, J., Kühnel, T., Schröder, C., Giesselmann, S., Tschernoster, N., Altmüller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J, 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., Yamamoto, G.L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C.A., Valadares, E.R., de Sousa, S.B., Maia, S., Saraiva, J., Honjo, R.S., Kim, C.A., Cabral de Menezes, H., Lausch, E., Lorini, P.V., Lamounier, A., Carniero, T.C.B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmüller, J., Nürnberg, P., Cavalcanti, D.P., Zabel, B., Warman, M.L., Bertola, D.R., Wollnik, B. and Netzer, C.
American Journal of Human Genetics 105 (4): 836-843. 3 October 2019

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

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

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

Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.
Alcala, N., Leblay, N., Gabriel, A.A.G., Mangiante, L., Hervas, D., Giffon, T., Sertier, A.S., Ferrari, A., Derks, J., Ghantous, A., Delhomme, T.M., Chabrier, A., Cuenin, C., Abedi-Ardekani, B., Boland, A., Olaso, R., Meyer, V., Altmuller, J., Le Calvez-Kelm, F., Durand, G., Voegele, C., Boyault, S., Moonen, L., Lemaitre, N., Lorimier, P., Toffart, A.C., Soltermann, A., Clement, J.H., Saenger, J., Field, J.K., Brevet, M., Blanc-Fournier, C., Galateau-Salle, F., Le Stang, N., Russell, P.A., Wright, G., Sozzi, G., Pastorino, U., Lacomme, S., Vignaud, J.M., Hofman, V., Hofman, P., Brustugun, O.T., Lund-Iversen, M., Thomas de Montpreville, V., Muscarella, L.A., Graziano, P., Popper, H., Stojsic, J., Deleuze, J.F., Herceg, Z., Viari, A., Nuernberg, P., Pelosi, G., Dingemans, A.M.C., Milione, M., Roz, L., Brcic, L., Volante, M., Papotti, M.G., Caux, C., Sandoval, J., Hernandez-Vargas, H., Brambilla, E., Speel, E.J.M., Girard, N., Lantuejoul, S., McKay, J.D., 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., Nguyen, T.T.M., Baratang, N., Raju, P.K., Knaus, A., Ellard, S., Jones, G., Lace, B., Rousseau, J., Ajeawung, N.F., Kamei, A., Minase, G., Akasaka, M., Araya, N., Koshimizu, E., van den Ende, J., Erger, F., Altmüller, J., Krumina, Z., Strautmanis, J., Inashkina, I., Stavusis, J., El-Gharbawy, A., Sebastian, J., Puri, R.D., Kulshrestha, S., Verma, I.C., Maier, E.M., Haack, T.B., Israni, A., Baptista, J., Gunning, A., Rosenfeld, J.A, Liu, P., Joosten, M., Rocha, M.E., Hashem, M.O., Aldhalaan, H.M., Alkuraya, F.S., Miyatake, S., Matsumoto, N., Krawitz, P.M., Rossignol, E., Kinoshita, T. and Campeau, P.M.
American Journal of Human Genetics 105 (2): 384-394. 1 August 2019

Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem.
Frerichs, A., Engelhorn, J., Altmüller, J., 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., Paketci, C., Altmueller, J., Thiele, H., Hoelker, I., 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., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V.C., Olfe, J., Roser, E., Seggewies, F.S., Mahlmann, A., Hempel, M., Hartmann, M.J., Hillebrand, M., Wieczorek, D., Volk, A.E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R.i, Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., 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., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J., Thiele, H., Assmann, B., Koy, A. and Cirak, S.
Journal of Human Genetics 64 (8): 803-813. August 2019

R-spondin-3 induces secretory, antimicrobial Lgr5(+) cells in the stomach.
Sigal, M., Del Mar Reinés, M., Müllerke, S., Fischer, C., Kapalczynska, M., Berger, H., Bakker, E.R.M., Mollenkopf, H.J., Rothenberg, M.E., Wiedenmann, B., 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., Marbach, F., Tschernitz, S., Ortner, C., Berneburg, M., Felthaus, O., Prantl, L., Kye, M.J., Rappl, G., Altmüller, J., Thiele, H., Schreml, S. and Schreml, J.
Scientific Reports 9 (1): 8444. 11 June 2019

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

HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Kause, F., Zhang, R., Ludwig, M., Schmiedeke, E., Rissmann, A., Thiele, H., Altmueller, J., Herms, S., Hilger, A.C., 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., Maurer, A., Eipel, M., Knoll, K., Geelvink, M., Veeck, J., Knuechel, R., van Essen, J., Stoehr, R., Hartmann, A., Altmueller, J., 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., Metsger, M., Bauch, S., Vidal, R., Böttcher, M., Grote, P., 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., Dworschak, G.C., Frese, S., Japp, A.S., Schuster, P., Wenzlitschke, N., Yilmaz, Ö., Lopes, F.M., Pryalukhin, A., Schierbaum, L., van der Zanden, L.F.M., Kause, F., Schneider, R., Taranta-Janusz, K., Szczepańska, M., Pawlaczyk, K., Newman, W.G., Beaman, G.M., Stuart, H.M., Cervellione, R.M., Feitz, W.F.J., van Rooij, I.A.L.M., Schreuder, M.F., Steffens, M., Weber, S., Merz, W.M., Feldkötter, M., Hoppe, B., Thiele, H., Altmüller, J., Berg, C., Kristiansen, G., Ludwig, M., Reutter, H., Woolf, A.S., Hildebrandt, F., Grote, P., Zaniew, M., Odermatt, B. and Hilger, A.C.
American Journal of Human Genetics 104 (5): 994-1006. 2 May 2019

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

Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine.
Herberg, M., Siebert, S., Quaas, M., Thalheim, T., Rother, K., Hussong, M., Altmüller, J., Kerner, C., Galle, J., Schweiger, M.R. and Aust, G.
Clinical Epigenetics 11 (1): 65. 27 April 2019

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

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

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

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

m(6)A-mRNA methylation regulates cardiac gene expression and cellular growth.
Kmietczyk, V., Riechert, E., Kalinski, L., Boileau, E., Malovrh, E., Malone, B., Gorska, A., Hofmann, C., Varma, E., Jürgensen, L., Kamuf-Schenk, V., Altmüller, J., Tappu, R., Busch, M., Most, P., Katus, H.A., 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., George, A., Ratbi, I., Schneider, R., Elalaoui, S.C., Moosa, S., Bharti, S., Sharma, R., Abu-Asab, M., Onojafe, F., Adadi, N., Lodder, E.M., Laarabi, F.Z., Lamsyah, Y., Elorch, H., Chebbar, I., Postma, A.V., Lougaris, V., Plebani, A., Altmueller, J., Kyrieleis, H., Meiner, V., McNeill, H., Bharti, K., Lyonnet, S., Wollnik, B., Henrion-Caude, A., Berraho, A., Hildebrandt, F., Bezzina, C.R., Brooks, B.P. and Sefiani, A.
Nature Communications 10 (1): 1180. 12 March 2019

Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing.
Grimm, C., Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, Anne M, Altmüller, J., Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M., 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., Sedlazeck, F.J., Schatz, M.C, Altmüller, J., 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., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., 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., Seufert, J., Raimondi, F., Bens, S., Kleinheinz, K., Nagel, I., Altmüller, J., Thiele, H., Hübschmann, D., Kohler, C.W., Nürnberg, P., Au-Yeung, R., Burkhardt, B., Horn, H., Leoncini, L., Jaffe, E.S., Ott, G., Rymkiewicz, G., Schlesner, M., Russell, R.B., Klapper, W. and Siebert, R.
Blood 133 (9): 962-966. 28 February 2019

The Wnt-driven Mll1 epigenome regulates salivary gland and head and neck cancer.
Zhu, Q., Fang, L., Heuberger, J., Kranz, A., Schipper, J., Scheckenbach, K., Oliveira Vidal, R., Sunaga-Franze, D.Y., Müller, M., Wulf-Goldenberg, A., 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., Alonso-Lobo, J.M., Montanuy, I., Fischer, C., Sauer, S., Sigal, L., Sevilla, N. and Alcamí, A.
Nature Communications 9 (1): 5440. 21 December 2018

A mechanistic classification of clinical phenotypes in neuroblastoma.
Ackermann, S., Cartolano, M., Hero, B., Welte, A., Kahlert, Y., Roderwieser, A., Bartenhagen, C., Walter, E., Gecht, J., Kerschke, L., Volland, R., Menon, R., Heuckmann, J.M., Gartlgruber, M., Hartlieb, S., Henrich, K.O., Okonechnikov, K., Altmüller, J., Nürnberg, P., Lefever, S., de Wilde, B., Sand, F., Ikram, F., Rosswog, C., Fischer, J., Theissen, J., Hertwig, F., Singhi, A.D., Simon, T., Vogel, W., Perner, S., Krug, B., Schmidt, M., Rahmann, S., Achter, V., Lang, U., Vokuhl, C., Ortmann, M., Büttner, R., Eggert, A., Speleman, F., O'Sullivan, R.J., Thomas, R.K., Berthold, F., Vandesompele, J., Schramm, A., Westermann, F., Schulte, J.H., Peifer, M. and Fischer, M.
Science 362 (6419): 1165-1170. 7 December 2018

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

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

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

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

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

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.
Harms, F.L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V.V., Alawi, M., Altmüller, J., 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., Britto-Borges, T., Steckelberg, A.L., Singh, K.K., Gerbracht, J.V., Gueney, E., Blazquez, L., Altmüller, J., 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., Bandulik, S., Mammen, C., Tarailo-Graovac, M., Holm, R., Baumann, M., König, J., Lee, J.J.Y., Drögemöller, B., Imminger, K., Beck, B.B., Altmüller, J., Thiele, H., Waldegger, S., Van't Hoff, W., Kleta, R., Warth, R., van Karnebeek, C.D.M., Vilsen, B., Bockenhauer, D. and Konrad, M.
American Journal of Human Genetics 103 (5): 808-816. 1 November 2018

Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.
Mroß, C., Marko, M., Munck, M., Glöckner, G., Motameny, S., Altmüller, J., Noegel, A.A., Eichinger, L., Peche, V.S. and Neumann, S.
Nucleus 9 (1): 503-515. 20 October 2018

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

Senior-Løken syndrome with IQCB1 mutation in Taiwan.
Yu, P.H., Kuo, Y.R., Altmüller, J. and Hwang, D.Y.
Kaohsiung Journal of Medical Sciences 34 (10): 588-589. October 2018

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

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

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

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

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

A de novo KCNA1 mutation in a patient with tetany and hypomagnesemia.
van der Wijst, J., Konrad, M., Verkaart, S.A.J., Tkaczyk, M., Latta, F., Altmüller, J., Thiele, H., Beck, B., 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., Girard, S., Harrer, M., Bobbili, D.R., Schubert, J., Wolking, S., Becker, F., Lachance-Touchette, P., Meloche, C., Gravel, M., Niturad, C.E., Knaus, J., De Kovel, C., Toliat, M., Polvi, A., Iacomino, M., Guerrero-López, R., Baulac, S., Marini, C., Thiele, H., Altmüller, J., Jabbari, K., Ruppert, A.K., Jurkowski, W., Lal, D., Rusconi, R., Cestèle, S., Terragni, B., Coombs, I.D., Reid, C.A., Striano, P., Caglayan, H., Siren, A., Everett, K., Møller, R.S., Hjalgrim, H., Muhle, H., Helbig, I., Kunz, W.S., Weber, Y.G., Weckhuysen, S., Jonghe, P.D., Sisodiya, S.M., Nabbout, R., Franceschetti, S., Coppola, A., Vari, M.S., Kasteleijn-Nolst Trenité, D., Baykan, B., Ozbek, U., Bebek, N., Klein, K.M., Rosenow, F., Nguyen, D.K., Dubeau, F., Carmant, L., Lortie, A., Desbiens, R., Clément, J.F., Cieuta-Walti, C., Sills, G.J., Auce, P., Francis, B., Johnson, M.R., Marson, A.G., Berghuis, B., Sander, J.W., Avbersek, A., McCormack, M., Cavalleri, G.L., Delanty, N., Depondt, C., Krenn, M., Zimprich, F., Peter, S., Nikanorova, M., Kraaij, R., van Rooij, J., Balling, R., Ikram, M.A., Uitterlinden, A.G., Avanzini, G., Schorge, S., Petrou, S., Mantegazza, M., Sander, T., LeGuern, E., Serratosa, J.M., Koeleman, B.P.C., Palotie, A., Lehesjoki, A.E., Nothnagel, M., Nürnberg, P., Maljevic, S., Zara, F., Cossette, P., Krause, R. and Lerche, H.
Lancet Neurology 17 (8): 699-708. August 2018

Transient N-6-methyladenosine transcriptome sequencing reveals a regulatory role of m6A in splicing efficiency.
Louloupi, A., Ntini, E., 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., Fischer, C., Ambrosi, T.H., Bothe, M., Han, C.T., Muenzner, M., Mathia, S., Salminen, M., Seifert, G., Thiele, M., Duda, G.N., Meijsing, S.H., Sauer, S., Schulz, T.J. and Schupp, M.
Molecular and Cellular Biology 38 (12): e00599-17. June 2018

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Gonçalves, I.C.G., Brecht, J., Thelen, M.P., Rehorst, W.A., Peters, M., Lee, H.J., Motameny, S., Torres-Benito, L., Ebrahimi-Fakhari, D., Kononenko, N.L., Altmüller, J., Vilchez, D., Sahin, M., 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., Nikolic, M., Sofiadis, K., Mallm, J.P., Brackley, C.A., Gothe, H., Drechsel, O., Becker, C., Altmüller, J., Josipovic, N., Georgomanolis, T., Brant, L., Franzen, J., Koker, M., Gusmao, E.G., Costa, I.G., Ullrich, R.T., Wagner, W., Roukos, V., Nürnberg, P., Marenduzzo, D., Rippe, K. and Papantonis, A.
Molecular Cell 70 (4): 730-744.e6. 17 May 2018

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

Targeted resequencing reveals genomic signatures of barley domestication.
Pankin, A., Altmüller, J., Becker, C. and von Korff, M.
New Phytologist 218 (3): 1247-1259. May 2018

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Peeva, V., Blei, D., Trombly, G., Corsi, S., Szukszto, M.J., Rebelo-Guiomar, P., Gammage, P.A., Kudin, A.P., Becker, C., Altmüller, J., Minczuk, M., 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., Zhang, R., Bungenberg, J., Marks, M., Gehlen, J., Ralser, D.J., Hilger, A.C., Sharma, A., Schumacher, J., Gembruch, U., Merz, W.M., Becker, A., Altmüller, J., Thiele, H., Herrmann, B.G., Odermatt, B., 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., Horvath, J., Groß, E., Gehrig, A., Honisch, E., Hackmann, K., Schmidt, G., Arnold, N., Faust, U., Sutter, C., Hentschel, J., Wang-Gohrke, S., Smogavec, M., Weber, B.H.F., Weber-Lassalle, N., Weber-Lassalle, K., Borde, J., Ernst, C., Altmüller, J., Volk, A.E., Thiele, H., Hübbel, V., Nürnberg, P., Keupp, K., Versmold, B., Pohl, E., Kubisch, C., Grill, S., Paul, V., Herold, N., Lichey, N., Rhiem, K., Ditsch, N., Ruckert, C., Wappenschmidt, B., Auber, B., Rump, A., Niederacher, D., Haaf, T., Ramser, J., Dworniczak, B., Engel, C., Meindl, A., Schmutzler, R.K. and Hahnen, E.
Cancer Medicine 7 (4): 1349-1358. April 2018

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

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Wenzel, A., Altmueller, J., Ekici, A.B., Popp, B., Stueber, K., Thiele, H., Pannes, A., Staubach, S., Salido, E., Nuernberg, P., Reinhardt, R., Reis, A., Rump, P., Hanisch, F.G., Wolf, M.T.F., Wiesener, M., Huettel, B. and Beck, B.B.
Scientific Reports 8 (1): 4170. 8 March 2018

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

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

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

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

Olfactory receptors as biomarkers in human breast carcinoma tissues.
Weber, L., Maßberg, D., Becker, C., Altmüller, J., Ubrig, B., Bonatz, G., Wölk, G., Philippou, S., Tannapfel, A., Hatt, H. and Gisselmann, G.
Frontiers in Oncology 8 : 33. 15 February 2018

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

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

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

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

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

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

2017

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
Alawbathani, S., Kawalia, A., Karakaya, M., Altmüller, J., 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., Gabel, P., Tsaousidou, E., Nolte, H., Krüger, M., Schmitz, J., Ackermann, P.J., Brandt, C., Altmüller, J., Motameny, S., Wunderlich, F.T., Kornfeld, J.W., Blüher, M. and Brüning, J.C.
Nature Medicine 23 (12): 1466-1473. 1 December 2017

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

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

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

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

Alterations in the α(2)δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., Moyanova, S., Ngomba, R.T., van Luijtelaar, G., Battaglia, G., Bruno, V., Striano, P. 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., Ticozzi, N., Weishaupt, J.H., Kenna, K., Diekstra, F.P., Verde, F., Andersen, P.M., Dekker, A.M, Tiloca, C., Marroquin, N., Overste, D.J., Pensato, V., Nürnberg, P., Pulit, S.L., Schellevis, R.D., Calini, D., Altmüller, J., Francioli, L.C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A.C., van den Berg, L.H., Kubisch, C., Landers, J.E., Veldink, J.H., Silani, V. and Volk, A.E.
Human Mutation 38 (11): 1534-1541. November 2017

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

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

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

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

Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin.
Dennenmoser, S., Sedlazeck, F.J., Iwaszkiewicz, E., Li, X.Y., 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., Piard, J., Bonnard, C., Alfadhel, M., Lim, S., Bisteau, X., Blouin, S., Ali, N.A.B., Ng, A.Y.J., Lu, H., Tohari, S., Talib, S.Z.A., van Hul, N., Caldez, M.J., Van Maldergem, L., Yigit, G., Kayserili, H., Youssef, S.A., Coppola, V., de Bruin, A., Tessarollo, L., Choi, H., Rupp, V., Roetzer, K., Roschger, P., Klaushofer, K., Altmüller, J., Roy, S., Venkatesh, B., Ganger, R., Grill, F., Ben Chehida, F., Wollnik, B., Altunoglu, U., Al Kaissi, A., Reversade, B. and Kaldis, P.
American Journal of Human Genetics 101 (3): 391-403. 7 September 2017

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

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

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Moosa, S., Loeys, B., Altmüller, J., Mortier, G., Nürnberg, P., Li, Y., Wollnik, B. and Vogel, I.
Clinical Genetics 92 (3): 342-343. September 2017

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Moosa, S., Altmüller, J., Lyngbye, T., Christensen, R., Li, Y., Nürnberg, P., Yigit, G., 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., Bartusel, M., Solinas, F., 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., Feyerabend, T.B., Rössler, J., Wang, X., Postrach, D., Busch, K., Rode, I., Klapproth, K., Dietlein, N., Quedenau, C., Chen, W., Sauer, S., Wolf, S., Höfer, T. and Rodewald, H.Re.
Nature 548 (7668): 456-460. 24 August 2017

Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease.
Siede, D., Rapti, K., Gorska, A.A., Katus, H.A., Altmüller, J., Boeckel, J.N., Meder, B., Maack, C., Völkers, M., Müller, O.J., 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., Baig, S.M., Abdulkareem, A.R., Hussain, M.S., Sur, I., Toliat, M.R., Nürnberg, G., Dalibor, N., Moawia, A., Waseem, S.S., Asif, M., Nagra, H., Sher, M., Khan, M.M.A., Hassan, I., Rehman, S.U., Thiele, H., Altmüller, J., 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., Lüdecke, H.J., Hamdan, F.F., Altmüller, J., Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P.A., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T. and Wieczorek, D.
Human Genetics 136 (7): 821-834. July 2017

Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin.
Paeger, L., Karakasilioti, I., Altmüller, J., Frommolt, P., 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., Haenisch, B., Kawalia, A., Menzen, M., Nöthen, M.M., Fier, H. and Molderings, G.J.
Immunogenetics 69 (6): 359-369. June 2017

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

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

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

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

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

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

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

RNA-seq based transcriptome analysis of the type I interferon host response upon vaccinia virus infection of mouse cells.
Hernáez, B., Alonso, G., Alonso-Lobo, J.M., Rastrojo, A., Fischer, C., Sauer, S., 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., Veitinger, S., Peek, I., Busse, D., Eckardt, J., Vladimirova, D., Jovancevic, N., Wojcik, S., Gisselmann, G., Altmüller, J., Ständer, S., Luger, T., Paus, R., Cheret, J. and Hatt, H.
Experimental Dermatology 26 (1): 58-65. January 2017