Universität zu Köln

2023

Ahmad, Ilyas ORCID: 0000-0003-4845-9227, Khan, Ayaz ORCID: 0000-0002-4743-7387, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmueller, Janine, Korejo, Asad Aslam, Nurnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nuernberg, Peter and Erdmann, Jeanette (2023). A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. J. Hum. Genet., 68 (2). S. 107 - 110. LONDON: SPRINGERNATURE. ISSN 1435-232X

2022

Andreotti, Sandro, Altmueller, Janine, Quedenau, Claudia, Borodina, Tatiana, Nouailles, Geraldine, Teixeira Alves, Luiz Gustavo, Landthaler, Markus ORCID: 0000-0002-1075-8734, Bieniara, Maximilian, Trimpert, Jakob and Wyler, Emanuel (2022). De Novo-Whole Genome Assembly of the Roborovski Dwarf Hamster (Phodopus roborovskii) Genome: An Animal Model for Severe/Critical COVID-19. Genome Biol. Evol., 14 (7). OXFORD: OXFORD UNIV PRESS. ISSN 1759-6653

Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Hoehne, Wolfgang, Altmueller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nuernberg, Peter, Graul-Neumann, Luitgard and Hussain, Muhammad Sajid (2022). A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am. J. Med. Genet. A, 188 (4). S. 1251 - 1259. HOBOKEN: WILEY. ISSN 1552-4833

Boegershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng-Jia ORCID: 0000-0002-7559-6529, Yigit, Goekhan, Huening, Irina, Polo, Anna M., Vona, Barbara ORCID: 0000-0002-6719-3447, Huang, Kevin ORCID: 0000-0002-2512-7812, Schmidt, Julia, Altmueller, Janine, Luppe, Johannes, Platzer, Konrad, Doergeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa, I, Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bueltmann, Eva, Nuernberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K. ORCID: 0000-0002-0429-1904, Hillen, Hauke S., Kratz, Christian P. and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Hum. Mutat., 43 (10). S. 1454 - 1472. HOBOKEN: WILEY. ISSN 1098-1004

Boileau, Etienne, Li, Xue, Naarmann-de Vries, Isabel S., Becker, Christian, Casper, Ramona, Altmueller, Janine, Leuschner, Florian and Dieterich, Christoph (2022). Full-Length Spatial Transcriptomics Reveals the Unexplored Isoform Diversity of the Myocardium Post-MI. Front. Genet., 13. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Braun, Till, Stachelscheid, Johanna ORCID: 0000-0001-7419-8900, Bley, Nadine, Oberbeck, Sebastian, Otte, Moritz, Muller, Tony Andreas, Wahnschaffe, Linus, Glass, Markus ORCID: 0000-0003-2718-8907, Ommer, Katharina, Franitza, Marek, Gathof, Birgit, Altmueller, Janine, Hallek, Michael ORCID: 0000-0002-7425-4455, Auguin, Daniel ORCID: 0000-0003-4713-9096, Huettelmaier, Stefan, Schrader, Alexandra and Herling, Marco (2022). Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia. Cancer Res., 82 (9). S. 1818 - 1832. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445

Conrad, Thomas ORCID: 0000-0001-5618-6295 and Altmueller, Janine (2022). Single cell- and spatial 'Omics revolutionize physiology. Acta Physiol., 235 (4). HOBOKEN: WILEY. ISSN 1748-1716

Dumont, Martine ORCID: 0000-0002-5488-4839, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna ORCID: 0000-0001-7756-8815, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stephane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallee, Maxime, Fournier, Frederic, Lemacon, Audrey, Adank, Muriel A., Allen, Jamie, Altmueller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley ORCID: 0000-0002-3280-7154, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horvath, Judit, Ikram, M. Arf An, Kaulfuss, Silke ORCID: 0000-0003-2577-9711, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Ott, Claus-Eric, Peters, Annette ORCID: 0000-0001-6645-0985, Pharoah, Paul D. P., Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stabler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael ORCID: 0000-0003-2589-6440, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter ORCID: 0000-0002-8023-2009, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric and Simard, Jacques ORCID: 0000-0001-6906-3390 (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. Cancers, 14 (14). BASEL: MDPI. ISSN 2072-6694

Goenenc, Ipek Ilgin, Elcioglu, Nursel H., Grijalva, Carolina Martinez, Aras, Seda, Grossmann, Nadine, Praulich, Inka, Altmueller, Janine, Kaulfuss, Silke, Li, Yun, Nuernberg, Peter, Burfeind, Peter, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome. Clin. Genet., 101 (5-6). S. 559 - 565. HOBOKEN: WILEY. ISSN 1399-0004

Hilgers, Leon ORCID: 0000-0002-3539-2513, Roth, Olivia, Nolte, Arne W., Schueller, Alina, Spanke, Tobias, Flury, Jana M., Utama, Ilham, V, Altmueller, Janine, Wowor, Daisy, Misof, Bernhard, Herder, Fabian, Boehne, Astrid and Schwarzer, Julia (2022). Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue. Curr. Biol., 32 (3). S. 715 - 730. CAMBRIDGE: CELL PRESS. ISSN 1879-0445

Kanber, Deniz, Woestefeld, Julia, Doepper, Hannah, Bozet, Morgane, Brenzel, Alexandra, Altmueller, Janine, Kilpert, Fabian, Lohmann, Dietmar, Pommerenke, Claudia and Steenpass, Laura (2022). RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation. Cancers, 14 (9). BASEL: MDPI. ISSN 2072-6694

Lessel, Davor ORCID: 0000-0003-4496-244X, Rading, Katrin, Campbell, Susan E., Thiele, Holger, Altmueller, Janine, Gordon, Leslie B. and Kubisch, Christian (2022). A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies. Am. J. Med. Genet. A, 188 (1). S. 216 - 224. HOBOKEN: WILEY. ISSN 1552-4833

Marko, Hannah L., Hornig, Nadine C., Betz, Regina C., Holterhus, Paul-Martin, Altmueller, Janine, Thiele, Holger, Fabiano, Marietta ORCID: 0000-0002-4360-6809, Schweikert, Hans-Udo, Braun, Doreen and Schweizer, Ulrich ORCID: 0000-0003-1380-4780 (2022). Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development. Hum. Mutat., 43 (3). S. 420 - 434. HOBOKEN: WILEY. ISSN 1098-1004

Meeser, Alina, Bartenhagen, Christoph, Werr, Lisa, Hellmann, Anna-Maria, Kahlert, Yvonne, Hemstedt, Nadine, Nuernberg, Peter, Altmueller, Janine, Ackermann, Sandra, Hero, Barbara, Simon, Thorsten ORCID: 0000-0002-3425-8451, Peifer, Martin ORCID: 0000-0002-5243-5503, Fischer, Matthias and Rosswog, Carolina (2022). Reliable assessment of telomere maintenance mechanisms in neuroblastoma. Cell Biosci., 12 (1). LONDON: BMC. ISSN 2045-3701

Odenthal, Johanna, Dittrich, Sebastian, Ludwig, Vivian, Merz, Tim, Reitmeier, Katrin, Reusch, Bjoern, Hoehne, Martin, Cosgun, Zuelfue C., Hohenadel, Maximilian, Putnik, Jovana, Goebel, Heike, Rinschen, Markus M., Altmueller, Janine, Koehler, Sybille, Schermer, Bernhard, Benzing, Thomas ORCID: 0000-0003-0512-1066, Beck, Bodo B., Brinkkoetter, Paul T., Habbig, Sandra and Bartram, Malte P. (2022). Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes. Kidney Int. Rep., 8 (2). S. 317 - 330. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Piechotta, Michael, Naarmann-de Vries, Isabel S., Wang, Qi, Altmueller, Janine and Dieterich, Christoph ORCID: 0000-0001-9468-6311 (2022). RNA modification mapping with JACUSA2. Genome Biol., 23 (1). LONDON: BMC. ISSN 1474-760X

Reusch, Bjorn, Bartram, Malte P., Dafinger, Claudia, Palacio-Escat, Nicolas ORCID: 0000-0002-7022-1437, Wenzel, Andrea, Fenton, Robert A., Saez-Rodriguez, Julio ORCID: 0000-0002-8552-8976, Schermer, Bernhard, Benzing, Thomas, Altmueller, Janine, Beck, Bodo B. and Rinschen, Markus M. (2022). MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells. J. Proteomics, 252. AMSTERDAM: ELSEVIER. ISSN 1876-7737

Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian ORCID: 0000-0003-4220-0978, Scherer, Stephen W. ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor ORCID: 0000-0003-4496-244X (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet., 30 (5). S. 611 - 619. LONDON: SPRINGERNATURE. ISSN 1476-5438

Rolfes, Muriel, Borde, Julika, Moellenhoff, Kathrin, Kayali, Mohamad ORCID: 0000-0003-2092-5695, Ernst, Corinna ORCID: 0000-0001-7756-8815, Gehrig, Andrea, Sutter, Christian ORCID: 0000-0003-4051-5888, Ramser, Juliane, Niederacher, Dieter, Horvath, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Rhiem, Kerstin, Engel, Christoph ORCID: 0000-0002-7247-282X, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric and Hauke, Jan ORCID: 0000-0001-8236-4075 (2022). Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers, 14 (13). BASEL: MDPI. ISSN 2072-6694

Schlautmann, Lena P., Lackmann, Jan-Wilm ORCID: 0000-0001-8182-8034, Altmueller, Janine, Dieterich, Christoph ORCID: 0000-0001-9468-6311, Boehm, Volker ORCID: 0000-0001-7588-9842 and Gehring, Niels H. (2022). Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance. Nucleic Acids Res., 50 (10). S. 5899 - 5919. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuss, Silke, Yigit, Goekhan and Wollnik, Bernd (2022). Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Front. Cell. Dev. Biol., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

Schmidt, Julia ORCID: 0000-0002-5942-2924, Schreiber, Gudrun, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Li, Yun, Kaulfuss, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Eur. J. Hum. Genet., 30 (2). S. 211 - 219. LONDON: SPRINGERNATURE. ISSN 1476-5438

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Walsh, Patrick R., McNicholas, Bairbre, Fistrek, Margareta, Habbig, Sandra, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Folz-Donahue, Kat, Kukat, Christian ORCID: 0000-0003-1508-0229, Toliat, Mohammad R., Becker, Christian, Thiele, Holger, Kavanagh, David, Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2022). Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. J. Mol. Diagn., 24 (6). S. 619 - 632. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Vesting, Anna Juliane, Jais, Alexander, Klemm, Paul, Steuernagel, Lukas ORCID: 0000-0003-0043-1436, Wienand, Peter, Fog-Tonnesen, Morten, Hvid, Henning, Schumacher, Anna-Lena, Kukat, Christian ORCID: 0000-0003-1508-0229, Nolte, Hendrik, Georgomanolis, Theodoros, Altmueller, Janine, Pasparakis', Manolis, Schmidt', Andreas, Krueger', Marcus, Supprian, Marc Schmidt, Waisman, Ari, Straub, Beate Katharina, Raschzok, Nathanael, Bernier, Michel, Birkenfeld, Andreas L. ORCID: 0000-0003-1407-9023, Hoevelmeyer, Nadine, Bruening, Jens C. and Wunderlich, F. Thomas (2022). NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition. Mol. Metab., 66. AMSTERDAM: ELSEVIER. ISSN 2212-8778

Wallmeroth, Damaris ORCID: 0000-0003-3437-4070, Lackmann, Jan-Wilm ORCID: 0000-0001-8182-8034, Kueckelmann, Sabrina ORCID: 0000-0001-8070-8823, Altmueller, Janine, Dieterich, Christoph ORCID: 0000-0001-9468-6311, Boehm, Volker ORCID: 0000-0001-7588-9842 and Gehring, Niels H. (2022). Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay. Embo J., 41 (10). HOBOKEN: WILEY. ISSN 1460-2075

2021

Augustin, Max ORCID: 0000-0002-2300-9337, Schommers, Philipp ORCID: 0000-0003-3375-6800, Stecher, Melanie, Dewald, Felix, Gieselmann, Lutz, Gruell, Henning, Horn, Carola, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Di Cristanziano, Veronica, Osebold, Luise, Roventa, Maria, Riaz, Toqeer, Tschernoster, Nikolai, Altmueller, Janine, Rose, Leonard, Salomon, Susanne, Priesner, Vanessa, Luers, Jan Christoffer, Albus, Christian, Rosenkranz, Stephan, Gathof, Birgit, Faetkenheuer, Gerd, Hallek, Michael, Klein, Florian, Suarez, Isabelle and Lehmann, Clara (2021). Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study. Lancet Reg. Health-Eur., 6. AMSTERDAM: ELSEVIER. ISSN 2666-7762

Augustin, Max ORCID: 0000-0002-2300-9337, Schommers, Philipp Frederik ORCID: 0000-0003-3375-6800, Stecher, Melanie, Dewald, Felix, Gieselmann, Lutz ORCID: 0000-0003-3699-3318, Grüll, Henning ORCID: 0000-0002-0725-7138, Horn, Carola, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Cristanziano, Veronica Di ORCID: 0000-0003-1604-8386, Osebold, Luise, Roventa, Maria, Riaz, Toqeer, Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Altmueller, Janine ORCID: 0000-0003-4372-1521, Rose, Leonard, Salomon, Susanne ORCID: 0000-0002-5143-2351, Priesner, Vanessa, Luers, Jan Christoffer, Albus, Christian ORCID: 0000-0002-4033-887X, Rosenkranz, Stephan, Gathof, Birgit, Fätkenheuer, Gerd ORCID: 0000-0002-5054-1871, Hallek, Michael ORCID: 0000-0002-7425-4455, Klein, Florian ORCID: 0000-0003-1376-1792, Suarez, Isabelle ORCID: 0000-0002-9863-9675 and Lehmann, Clara ORCID: 0000-0002-7042-1578 (2021). Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study. The Lancet Regional Health - Europe, 6. p. 100122. Elsevier. ISSN 2666-7762

Bamborschke, Daniel, Oezdemir, Oezkan, Kreutzer, Mona, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Kribs, Angela, Doetsch, Joerg, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. Am. J. Med. Genet. A, 185 (1). S. 90 - 97. HOBOKEN: WILEY. ISSN 1552-4833

Boehm, Volker ORCID: 0000-0001-7588-9842, Kueckelmann, Sabrina ORCID: 0000-0001-8070-8823, Gerbracht, Jennifer, V, Kallabis, Sebastian ORCID: 0000-0003-1580-7109, Britto-Borges, Thiago, Altmueller, Janine, Krueger, Marcus, Dieterich, Christoph and Gehring, Niels H. (2021). SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. Nat. Commun., 12 (1). BERLIN: NATURE PORTFOLIO. ISSN 2041-1723

Boileau, Etienne, Altmueller, Janine, Naarmann-de Vries, Isabel S. and Dieterich, Christoph (2021). A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover. Brief. Bioinform., 22 (6). OXFORD: OXFORD UNIV PRESS. ISSN 1477-4054

Brych, Annika, Haas, Fabian B., Parzefall, Katharina, Panzer, Sabine, Schermuly, Jeanette, Altmueller, Janine, Engelsdorf, Timo ORCID: 0000-0002-2169-0536, Terpitz, Ulrich ORCID: 0000-0003-3031-3422, Rensing, Stefan A., Kiontke, Stephan and Batschauer, Alfred (2021). Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis. Fungal Genet. Biol., 152. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1096-0937

Bubb, Kristina ORCID: 0000-0002-8457-0566, Holzer, Tatjana, Nolte, Janica L., Krueger, Marcus, Wilson, Richard, Schloetzer-Schrehardt, Ursula, Brinckmann, Juergen, Altmueller, Janine, Aszodi, Attila, Fleischhauer, Lutz, Clausen-Schaumann, Hauke ORCID: 0000-0002-9413-0310, Probst, Kristina and Brachvogel, Bent (2021). Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage. J. Biol. Chem., 297 (4). AMSTERDAM: ELSEVIER. ISSN 1083-351X

Chatzidoukaki, Ourania ORCID: 0000-0002-8746-2405, Stratigi, Kalliopi, Goulielmaki, Evi, Niotis, George ORCID: 0000-0002-4874-7336, Akalestou-Clocher, Alexia, Gkirtzimanaki, Katerina ORCID: 0000-0002-6489-0351, Zafeiropoulos, Alexandros, Altmueller, Janine, Topalis, Pantelis ORCID: 0000-0002-1635-4810 and Garinis, George A. (2021). R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage. Sci. Adv., 7 (47). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 2375-2548

Daimagueler, Huelya-Sevcan, Akpulat, Ugur, Oezdemir, Oezkan, Yis, Uluc, Gungor, Serdal, Talim, Beril, Diniz, Gulden, Baydan, Figen, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am. J. Med. Genet. A, 185 (6). S. 1678 - 1691. HOBOKEN: WILEY. ISSN 1552-4833

Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Zschocke, Johannes, Hennies, Hans Christian and Schmuth, Matthias (2021). Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V. Front. Genet., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Elalaoui, Siham Chafai, Fejjal, Nawfal, Li, Yun, Thiele, Holger, Altmueller, Janine, Guaoua, Soukaina, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Sefiani, Abdelaziz and Ratbi, Ilham (2021). Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. Pan Afr. Med. J., 39. KAMPALA: AFRICAN FIELD EPIDEMIOLOGY NETWORK-AFENET. ISSN 1937-8688

Errbii, Mohammed ORCID: 0000-0001-7719-0998, Keilwagen, Jens, Hoff, Katharina J., Steffen, Raphael ORCID: 0000-0003-4947-3899, Altmueller, Janine, Oettler, Jan and Schrader, Lukas (2021). Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior. Mol. Ecol., 30 (23). S. 6211 - 6229. HOBOKEN: WILEY. ISSN 1365-294X

Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea ORCID: 0000-0002-6398-3919, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Koentges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B. and Habbig, Sandra (2021). Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling. Kidney Int. Rep., 6 (5). S. 1368 - 1379. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Ferreira, Pedro, Hoefer, Verena, Kronshage, Nora, Marko, Anika, Reusswig, Karl-Uwe, Tetik, Bilal, Diessel, Christoph, Koehler, Kerstin, Tschernoster, Nikolai, Altmueller, Janine, Schulze, Nina, Pfander, Boris and Boos, Dominik (2021). MTBP phosphorylation controls DNA replication origin firing. Sci Rep, 11 (1). BERLIN: NATURE RESEARCH. ISSN 2045-2322

Fluemann, Ruth, Rehkaemper, Tim, Nieper, Pascal, Pfeiffer, Pauline, Holzem, Alessandra, Klein, Sebastian ORCID: 0000-0002-2188-9377, Bhatia, Sanil ORCID: 0000-0001-6494-7744, Kochanek, Moritz, Kisis, Ilmars ORCID: 0000-0001-6207-3991, Pelzer, Benedikt W., Ahlert, Heinz, Hauer, Julia, Guerreiro, Alexandra da Palma, Ryan, Jeremy A., Reimann, Maurice, Riabinska, Arina, Wiederstein, Janica, Krueger, Marcus, Deckert, Martina, Altmueller, Janine, Klatt, Andreas R., Frenzel, Lukas P., Pasqualucci, Laura, Beguelin, Wendy, Melnick, Ari M., Sander, Sandrine, Montesinos-Rongen, Manuel ORCID: 0000-0003-4724-5526, Brunn, Anna, Lohneis, Philipp, Buettner, Reinhard, Kashkar, Hamid, Borkhardt, Arndt, Letai, Anthony, Persigehl, Thorsten, Peifer, Martin, Schmitt, Clemens A. ORCID: 0000-0002-4731-2226, Reinhardt, Hans Christian and Knittel, Gero ORCID: 0000-0001-8395-3701 (2021). An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities. Blood Cancer Discov., 2 (1). S. 70 - 92. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 2643-3249

Gangfuss, Andrea ORCID: 0000-0002-9975-0092, Yigit, Goekhan, Altmueller, Janine, Nuernberg, Peter, Czeschik, Johanna Christina, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Boegershausen, Nina, Burfeind, Peter, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kaiser, Frank, Roos, Andreas, Koelbel, Heike, Schara-Schmidt, Ulrike and Kuechler, Alma (2021). Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am. J. Med. Genet. A, 185 (4). S. 1216 - 1222. HOBOKEN: WILEY. ISSN 1552-4833

Gizak, Agnieszka ORCID: 0000-0001-9367-0270, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wisniewski, Janusz, Duda, Przemyslaw ORCID: 0000-0001-5207-4157, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Hoehne, Wolfgang, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Rakus, Dariusz ORCID: 0000-0002-3823-3163, Gaertner, Jutta and Huppke, Peter (2021). A novel remitting leukodystrophy associated with a variant in FBP2. Brain Commun., 3 (2). OXFORD: OXFORD UNIV PRESS. ISSN 2632-1297

Iqbal, Maria, Maroofian, Reza, Cavdarli, Busranur, Riccardi, Florence ORCID: 0000-0002-7223-2172, Field, Michael, Banka, Siddharth ORCID: 0000-0002-8527-2210, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Makhdoom, Ehtisham Ul Haq, Ali, Zafar ORCID: 0000-0002-2389-3337, de Almeida, Tobias Scherf, Molinari, Florence ORCID: 0000-0001-5111-7215, Mignon-Ravix, Cecile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara ORCID: 0000-0002-6719-3447, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz ORCID: 0000-0003-3207-4074, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit ORCID: 0000-0001-9385-4168, Altmueller, Janine, Motameny, Susanne, Hoehne, Wolfgang, Houlden, Henry, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Villard, Laurent ORCID: 0000-0001-6657-5008, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Yigit, Gokhan ORCID: 0000-0003-2777-0198 (2021). Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Genet. Med., 23 (11). S. 2138 - 2150. LONDON: SPRINGERNATURE. ISSN 1530-0366

Kargapolova, Yulia ORCID: 0000-0001-7541-5778, Rehimi, Rizwan, Kayserili, Huelya, Bruehl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Goekhan, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian ORCID: 0000-0003-1693-9699, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Altmueller, Janine, Nuernberg, Peter, Laengst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341, Kurian, Leo ORCID: 0000-0001-7466-5169, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Bouazoune, Karim and Papantonis, Argyris (2021). Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nat. Commun., 12 (1). BERLIN: NATURE RESEARCH. ISSN 2041-1723

Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum. Mutat., 42 (4). S. 460 - 473. HOBOKEN: WILEY. ISSN 1098-1004

Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Kuechler, Alma (2021). MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur. J. Med. Genet., 64 (10). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Kirschner, K. Gwendolyn, Rosignoli, Serena ORCID: 0000-0002-4319-8761, Guo, Li ORCID: 0000-0003-0406-6966, Vardanega, Isaia ORCID: 0000-0002-3642-9381, Imani, Jafargholi ORCID: 0000-0001-8265-1656, Altmueller, Janine, Milner, G. Sara, Balzano, Raffaella, Nagel, A. Kerstin, Pflugfelder, Daniel, Forestan, Cristian ORCID: 0000-0002-1712-825X, Bovina, Riccardo, Koller, Robert, Stoecker, G. Tyll, Mascher, Martin, Simmonds, James, Uauy, Cristobal, Schoof, Heiko ORCID: 0000-0002-1527-3752, Tuberosa, Roberto, Salvi, Silvio and Hochholdinger, Frank (2021). ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF-containing protein that controls root growth angle in barley and wheat. Proc. Natl. Acad. Sci. U. S. A., 118 (35). WASHINGTON: NATL ACAD SCIENCES. ISSN 1091-6490

Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariette J. V., Van der Ven, Amelie, Thiele, Holger, Altmueller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K. and Lessel, Davor ORCID: 0000-0003-4496-244X (2021). ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics, 22 (4). S. 263 - 270. NEW YORK: SPRINGER. ISSN 1364-6753

Koester, Janis ORCID: 0000-0002-5274-0591, Miroshnikova, Yekaterina A., Ghatak, Sushmita, Chacon-Martinez, Carlos Andres, Morgner, Jessica ORCID: 0000-0001-6374-8639, Li, Xinping ORCID: 0000-0002-7427-0017, Atanassov, Ilian ORCID: 0000-0001-8259-2545, Altmueller, Janine, Birk, David E., Koch, Manuel ORCID: 0000-0002-2962-7814, Bloch, Wilhelm, Bartusel, Michaela, Niessen, Carien M. ORCID: 0000-0002-4892-9391, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341 and Wickstroem, Sara A. (2021). Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility. Nat. Cell Biol., 23 (7). S. 771 - 797. BERLIN: NATURE RESEARCH. ISSN 1476-4679

Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Hoehne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam ORCID: 0000-0001-5962-2101, Yousaf, Hammad, Ali, Zafar ORCID: 0000-0002-2389-3337, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Anjum, Iram, Altmueller, Janine, Thiele, Holger, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2021). Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes, 12 (5). BASEL: MDPI. ISSN 2073-4425

Pacholewska, Alicja ORCID: 0000-0002-4888-4883, Grimm, Christina ORCID: 0000-0002-4676-8870, Herling, Carmen D., Lienhard, Matthias ORCID: 0000-0002-2549-3142, Koenigs, Anja, Timmermann, Bernd, Altmueller, Janine, Muecke, Oliver, Reinhardt, Hans Christian, Plass, Christoph, Herwig, Ralf, Hallek, Michael and Schweiger, Michal R. (2021). Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients. Int. J. Mol. Sci., 22 (17). BASEL: MDPI. ISSN 1422-0067

Rosswog, Carolina, Bartenhagen, Christoph, Welte, Anne, Kahlert, Yvonne, Hemstedt, Nadine, Lorenz, Witali, Cartolano, Maria, Ackermann, Sandra ORCID: 0000-0002-5869-7344, Perner, Sven, Vogel, Wenzel, Altmueller, Janine, Nuernberg, Peter, Hertwig, Falk, Goehring, Gudrun, Lilienweiss, Esther, Stuetz, Adrian M., Korbel, Jan O., Thomas, Roman K., Peifer, Martin and Fischer, Matthias (2021). Chromothripsis followed by circular recombination drives oncogene amplification in human cancer. Nature Genet., 53 (12). S. 1673 - 1706. BERLIN: NATURE PORTFOLIO. ISSN 1546-1718

Schaufler, Diana, Ast, David F., Tumbrink, Hannah L., Abedpour, Nima, Maas, Lukas, Schwaebe, Ayla E., Spille, Inga, Lennartz, Stefanie, Fassunke, Jana, Aldea, Mihaela, Besse, Benjamin, Planchard, David, Nogova, Lucia, Michels, Sebastian, Kobe, Carsten, Persigehl, Thorsten, Westphal, Theresa, Koleczko, Sophia, Fischer, Rieke, Weber, Jan-Phillip, Altmueller, Janine, Thomas, Roman K., Merkelbach-Bruse, Sabine, Gautschi, Oliver, Mezquita, Laura, Buettner, Reinhard, Wolf, Juergen, Peifer, Martin, Braegelmann, Johannes, Scheffler, Matthias and Sos, Martin L. (2021). Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer. npj Precis. Oncol., 5 (1). BERLIN: NATURE PORTFOLIO. ISSN 2397-768X

Schlingmann, Karl P., Jouret, Francois, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerueschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Guran, Tulay, Burtey, Stephane, Parotte, Marie-Christine, Koenig, Jens, Braun, Alina, Bos, Caro ORCID: 0000-0001-5016-9435, Serra, Maria Ibars, Rehmann, Holger, Zwartkruis, Fried J. T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmueller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V. A. M., Konrad, Martin and de Baaij, Jeroen H. F. (2021). mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J. Am. Soc. Nephrol., 32 (11). S. 2885 - 2900. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Schmidt, Julia ORCID: 0000-0002-5942-2924, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Isensee, Joerg, Li, Yun, Mueller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim ORCID: 0000-0002-4147-9308, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2021). Biallelic variants in YRDC cause a developmental disorder with progeroid features. Hum. Genet., 140 (12). S. 1679 - 1694. NEW YORK: SPRINGER. ISSN 1432-1203

Sofiadis, Konstantinos, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Nikolic, Milos ORCID: 0000-0003-0029-7601, Kargapolova, Yulia ORCID: 0000-0001-7541-5778, Ubelmesser, Nadine, Varamogianni-Mamatsi, Vassiliki, Zirkel, Anne, Papadionysiou, Ioanna, Loughran, Gary, Keane, James ORCID: 0000-0001-7640-8326, Michel, Audrey, Gusmao, Eduardo G., Becker, Christian, Altmueller, Janine, Georgomanolis, Theodore, Mizi, Athanasia and Papantonis, Argyris (2021). HMGB1 coordinates SASP-related chromatin folding and RNA homeostasis on the path to senescence. Mol. Syst. Biol., 17 (6). HOBOKEN: WILEY. ISSN 1744-4292

Theobald, Sebastian J., Simonis, Alexander ORCID: 0000-0003-2945-9897, Georgomanolis, Theodoros ORCID: 0000-0002-4066-9257, Kreer, Christoph ORCID: 0000-0002-9140-9850, Zehner, Matthias, Eisfeld, Hannah S., Albert, Marie-Christine, Chhen, Jason, Motameny, Susanne, Erger, Florian ORCID: 0000-0002-2768-1702, Fischer, Julia ORCID: 0000-0001-6138-7454, Malin, Jakob J. ORCID: 0000-0002-2989-0436, Graeb, Jessica, Winter, Sandra, Pouikli, Andromachi ORCID: 0000-0003-1868-6875, David, Friederike ORCID: 0000-0001-9521-5669, Boell, Boris, Koehler, Philipp ORCID: 0000-0002-7386-7495, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Gruell, Henning, Suarez, Isabelle, Hallek, Michael, Faetkenheuer, Gerd, Jung, Norma, Cornely, Oliver A., Lehmann, Clara, Tessarz, Peter ORCID: 0000-0002-6953-9835, Altmueller, Janine, Nuernberg, Peter, Kashkar, Hamid, Klein, Florian, Koch, Manuel ORCID: 0000-0002-2962-7814 and Rybniker, Jan (2021). Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19. EMBO Mol. Med., 13 (8). HOBOKEN: WILEY. ISSN 1757-4684

Volk, Alexander E., Hedergott, Andrea ORCID: 0000-0002-6398-3919, Preising, Markus, Rading, Sebastian, Fricke, Julia, Herkenrath, Peter, Nurnberg, Peter, Altmueller, Janine, von Ameln, Simon, Lorenz, Birgit, Neugebauer, Antje, Karsak, Meliha and Kubisch, Christian (2021). Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism. Hum. Genet., 140 (8). S. 1157 - 1169. NEW YORK: SPRINGER. ISSN 1432-1203

Wang, Qi ORCID: 0000-0002-7827-4808, Boenigk, Sven, Boehm, Volker ORCID: 0000-0001-7588-9842, Gehring, Niels, Altmueller, Janine and Dieterich, Christoph ORCID: 0000-0001-9468-6311 (2021). Single-cell transcriptome sequencing on the Nanopore platform with ScNapBar. RNA, 27 (7). S. 763 - 771. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1469-9001

Warnat-Herresthal, Stefanie, Schultze, Hartmut ORCID: 0000-0001-5008-7851, Shastry, Krishnaprasad Lingadahalli, Manamohan, Sathyanarayanan, Mukherjee, Saikat, Garg, Vishesh ORCID: 0000-0001-5133-5896, Sarveswara, Ravi, Haendler, Kristian, Pickkers, Peter, Aziz, N. Ahmad, Ktena, Sofia, Tran, Florian, Bitzer, Michael, Ossowski, Stephan, Casadei, Nicolas, Herr, Christian, Petersheim, Daniel, Behrends, Uta, Kern, Fabian, Fehlmann, Tobias, Schommers, Philipp ORCID: 0000-0003-3375-6800, Lehmann, Clara, Augustin, Max, Rybniker, Jan, Altmueller, Janine, Mishra, Neha, Bernardes, Joana P., Kraemer, Benjamin, Bonaguro, Lorenzo, Schulte-Schrepping, Jonas, De Domenico, Elena ORCID: 0000-0003-0336-8284, Siever, Christian, Kraut, Michael, Desai, Milind, Monnet, Bruno, Saridaki, Maria, Siegel, Charles Martin, Drews, Anna, Nuesch-Germano, Melanie, Theis, Heidi, Heyckendorf, Jan, Schreiber, Stefan, Kim-Hellmuth, Sarah ORCID: 0000-0001-8791-5729, Nattermann, Jacob, Skowasch, Dirk, Kurth, Ingo, Keller, Andreas ORCID: 0000-0002-5361-0895, Bals, Robert, Nuernberg, Peter, Riess, Olaf, Rosenstiel, Philip, Netea, Mihai G., Theis, Fabian, Mukherjee, Sach, Backes, Michael, Aschenbrenner, Anna C., Ulas, Thomas, Breteler, Monique M. B., Giamarellos-Bourboulis, Evangelos J., Kox, Matthijs, Becker, Matthias, Cheran, Sorin, Woodacre, Michael S., Goh, Eng Lim and Schultze, Joachim L. ORCID: 0000-0003-2812-9853 (2021). Swarm Learning for decentralized and confidential clinical machine learning. Nature, 594 (7862). S. 265 - 290. BERLIN: NATURE RESEARCH. ISSN 1476-4687

Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Ayaz, Ali, Zafar ORCID: 0000-0002-2389-3337, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, ul Haque, Saif, Altmueller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood and Nuernberg, Peter (2021). A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes, 12 (10). BASEL: MDPI. ISSN 2073-4425

Zhang, Shu, Uebelmesser, Nadine, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Forte, Giada ORCID: 0000-0001-9939-4465, Slotman, Johan A. ORCID: 0000-0001-9705-9620, Chiang, Michael ORCID: 0000-0002-1620-2550, Gothe, Henrike, Gusmao, Eduardo Gade, Becker, Christian, Altmueller, Janine, Houtsmuller, Adriaan B., Roukos, Vassilis, Wendt, Kerstin S., Marenduzzo, Davide and Papantonis, Argyris (2021). RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis. Sci. Adv., 7 (43). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 2375-2548

2020

Budde, Birgit S., Aly, Maha Abdelgaber, Mohamed, Mostafa R., Bress, Andreas, Altmueller, Janine, Motameny, Susanne, Kawalia, Amit, Thiele, Holger, Konrad, Kathryn, Becker, Christian, Toliat, Mohammad R., Nuernberg, Gudrun, Sayed, Eman Abdel Fattah, Mohamed, Enass Sayed, Pfister, Markus and Nuernberg, Peter (2020). Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin. Genet., 98 (1). S. 32 - 43. HOBOKEN: WILEY. ISSN 1399-0004

Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmueller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba ORCID: 0000-0001-5371-6756, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas ORCID: 0000-0002-0119-5896, Blok, Lot Snijders, Stoler, Joan M., Tang, Sha, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe ORCID: 0000-0001-9713-7107 and Bhoj, Elizabeth (2020). A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur. J. Hum. Genet., 28 (10). S. 1422 - 1432. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Erger, Florian ORCID: 0000-0002-2768-1702, Noerling, Deborah, Borchert, Domenica, Leenen, Esther, Habbig, Sandra, Wiesener, Michael S., Bartram, Malte P., Wenzel, Andrea, Becker, Christian, Toliat, Mohammad R., Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2020). cfNOMe- A single assay for comprehensive epigenetic analyses of cell-free DNA. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

Gerbracht, Jennifer, V, Boehm, Volker, Britto-Borges, Thiago, Kallabis, Sebastian, Wiederstein, Janica L., Ciriello, Simona, Aschemeier, Dominik U., Krueger, Marcus, Frese, Christian K., Altmueller, Janine, Dieterich, Christoph and Gehring, Niels H. ORCID: 0000-0001-7792-1164 (2020). CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex. Nucleic Acids Res., 48 (15). S. 8626 - 8645. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Goulielmaki, Evi, Ioannidou, Anna, Tsekrekou, Maria ORCID: 0000-0002-0635-1499, Stratigi, Kalliopi, Poutakidou, Ioanna K., Gkirtzimanaki, Katerina, Aivaliotis, Michalis ORCID: 0000-0003-1173-7705, Evangelou, Konstantinos, Topalis, Pantelis, Altmueller, Janine, Gorgoulis, Vassilis G., Chatzinikolaou, Georgia and Garinis, George A. ORCID: 0000-0002-3200-5004 (2020). Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage. Nat. Commun., 11 (1). LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Hackl, Agnes, Erger, Florian ORCID: 0000-0002-2768-1702, Skerka, Christine, Wenzel, Andrea, Tschernoster, Nikolai, Ehren, Rasmus, Burgmaier, Kathrin, Riehmer, Vera, Licht, Christoph, Kirschfink, Michael, Weber, Lutz T., Altmueller, Janine, Zipfel, Peter F. and Habbig, Sandra (2020). Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies. Clin. Nephrol., 94 (4). S. 197 - 207. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

Hanses, Ulrich, Kleinsorge, Mandy, Roos, Lennart, Yigit, Goekhan, Li, Yun, Barbarics, Boris, El-Battrawy, Ibrahim, Lan, Huan, Tiburcy, Malte, Hindmarsh, Robin, Lenz, Christof, Salinas, Gabriela, Diecke, Sebastian, Mueller, Christian, Adham, Ibrahim, Altmueller, Janine, Nuernberg, Peter, Paul, Thomas, Zimmermann, Wolfram-Hubertus, Hasenfuss, Gerd, Wollnik, Bernd and Cyganek, Lukas ORCID: 0000-0001-9120-1382 (2020). Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy. Circulation, 142 (11). S. 1059 - 1077. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1524-4539

Hollenhorst, Monika I., Jurastow, Innokentij, Nandigama, Rajender ORCID: 0000-0002-7344-4732, Appenzeller, Silke, Li, Lei, Vogel, Joerg, Wiederhold, Stephanie, Althaus, Mike ORCID: 0000-0002-3554-7538, Empting, Martin, Altmueller, Janine, Hirsch, Anna K. H., Flockerzi, Veit, Canning, Brendan J., Saliba, Antoine-Emmanuel and Krasteva-Christ, Gabriela ORCID: 0000-0002-0113-521X (2020). Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling. Faseb J., 34 (1). S. 316 - 333. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Jiang, Hong, Gallet, Sarah, Klemm, Paul ORCID: 0000-0002-5985-1737, Scholl, Pia, Folz-Donahue, Kat, Altmueller, Janine, Alber, Jens, Heilinger, Christian, Kukat, Christian ORCID: 0000-0003-1508-0229, Loyens, Anne, Mueller-Fielitz, Helge, Sundaram, Sivaraj, Schwaninger, Markus, Prevot, Vincent ORCID: 0000-0001-7185-3615 and Bruening, Jens C. (2020). MCH Neurons Regulate Permeability of the Median Eminence Barrier. Neuron, 107 (2). S. 306 - 329. CAMBRIDGE: CELL PRESS. ISSN 1097-4199

Johnsen, Marc, Kubacki, Torsten, Yeroslaviz, Assa, Spaeth, Martin Richard, Moersdorf, Jannis, Gobel, Heike, Bohl, Katrin, Ignarski, Michael ORCID: 0000-0001-6057-7694, Meharg, Caroline, Habermann, Bianca ORCID: 0000-0002-2457-7504, Altmueller, Janine, Beyer, Andreas ORCID: 0000-0002-3891-2123, Benzing, Thomas, Schermer, Bernhard, Burst, Volker and Mueller, Roman-Ulrich (2020). The Integrated RNA Landscape of Renal Preconditioning against Ischemia-Reperfusion Injury. J. Am. Soc. Nephrol., 31 (4). S. 716 - 731. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Koch, Claudia, Kuske, Andra, Joosse, Simon A., Yigit, Goekhan, Sflomos, George ORCID: 0000-0003-2972-0549, Thaler, Sonja, Smit, Daniel J. ORCID: 0000-0002-3190-9511, Werner, Stefan, Borgmann, Kerstin, Gaertner, Sebastian, Mossahebi Mohammadi, Parinaz, Battista, Laura, Cayrefourcq, Laure, Altmueller, Janine, Salinas-Riester, Gabriela, Raithatha, Kaamini, Zibat, Arne, Goy, Yvonne, Ott, Leonie ORCID: 0000-0002-6308-0242, Bartkowiak, Kai, Tan, Tuan Zea, Zhou, Qing, Speicher, Michael R., Mueller, Volkmar, Gorges, Tobias M., Juecker, Manfred, Thiery, Jean-Paul, Brisken, Cathrin, Riethdorf, Sabine, Alix-Panabieres, Catherine and Pantel, Klaus (2020). Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity. EMBO Mol. Med., 12 (9). HOBOKEN: WILEY. ISSN 1757-4684

Kraemer, Max, Plum, Patrick S. ORCID: 0000-0002-8165-4553, Camacho, Oscar Velazquez, Folz-Donahue, Kat, Thelen, Martin ORCID: 0000-0002-2785-9726, Garcia-Marquez, Isabel, Woelwer, Christina, Buesker, Soeren, Wittig, Jana, Franitza, Marek, Altmueller, Janine, Loeser, Heike, Schloesser, Hans, Buettner, Reinhard, Schroeder, Wolfgang, Bruns, Christiane J., Alakus, Hakan, Quaas, Alexander, Chon, Seung-Hun ORCID: 0000-0002-8923-6428 and Hillmer, Axel M. (2020). Cell type-specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics. Mol. Oncol., 14 (6). S. 1170 - 1185. HOBOKEN: WILEY. ISSN 1878-0261

Montesinos-Rongen, Manuel, Brunn, Anna, Tuchscherer, Armin, Borchmann, Peter, Schorb, Elisabeth, Kasenda, Benjamin, Altmueller, Janine, Illerhaus, Gerald, Ruge, Maximilian, I, Maarouf, Mohammad, Buettner, Reinhard, Hansmann, Martin-Leo, Hallek, Michael, Prinz, Marco, Siebert, Reiner and Deckert, Martina (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. J. Mol. Diagn., 22 (10). S. 1300 - 1308. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmueller, Janine, Nuernberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter and Pauli, Silke (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. Mol. Syndromol., 11 (1). S. 30 - 38. BASEL: KARGER. ISSN 1661-8777

Patil, Paurnima, Cieslak, Agata ORCID: 0000-0003-1015-9448, Bernhart, Stephan H., Toprak, Umut H., Wagener, Rabea, Lopez, Cristina ORCID: 0000-0001-6644-1659, Wiehle, Laura ORCID: 0000-0001-6081-3925, Bens, Susanne, Altmueller, Janine, Franitza, Marek, Scholz, Ingrid, Jayne, Sandrine, Ahearne, Matthew J., Scheffold, Annika, Jebaraj, Billy M. C., Schneider, Christof, Costa, Dolors, Braun, Till, Schrader, Alexandra, Campo, Elias, Dyer, Martin J. S., Nuernberg, Peter, Duerig, Jan, Johansson, Patricia, Boettcher, Sebastian, Schlesner, Matthias, Herling, Marco, Stilgenbauer, Stephan, Macintyre, Elizabeth and Siebert, Reiner (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. Gene Chromosomes Cancer, 59 (4). S. 261 - 268. HOBOKEN: WILEY. ISSN 1098-2264

Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin (2020). The genomic and clinical landscape of fetal akinesia. Genet. Med., 22 (3). S. 511 - 524. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Pohl-Rescigno, Esther, Hauke, Jan, Loibl, Sibylle, Moebus, Volker, Denkert, Carsten, Fasching, Peter A., Kayali, Mohamad, Ernst, Corinna ORCID: 0000-0001-7756-8815, Weber-Lassalle, Nana, Hanusch, Claus, Tesch, Hans, Mueller, Volkmar, Altmueller, Janine, Thiele, Holger ORCID: 0000-0002-0169-998X, Untch, Michael, Luebbe, Kristina, Nuernberg, Peter, Rhiem, Kerstin, Furlanetto, Jenny, Lederer, Bianca, Jackisch, Christian, Nekljudova, Valentina, Schmutzler, Rita K., Schneeweiss, Andreas and Hahnen, Eric (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. JAMA Oncol., 6 (5). S. 744 - 749. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Sauvigny, Thomas, Alawi, Malik, Krause, Linda ORCID: 0000-0002-8490-5717, Renner, Sina, Spohn, Michael, Busch, Alice, Kolbe, Verena, Altmueller, Janine, Loescher, Britt-Sabina, Franke, Andre, Brockmann, Christian, Lieb, Wolfgang, Westphal, Manfred, Schmidt, Nils Ole ORCID: 0000-0001-6910-8843, Regelsberger, Jan and Rosenberger, Georg (2020). Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage. J. Neurol., 267 (9). S. 2533 - 2546. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1459

Schroeder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Goekhan, Altmueller, Janine, Boltshauser, Eugen, Doerk, Thilo and Brockmann, Knut (2020). Evidence of pathogenicity for the leaky splice variant c.1066-6T>G inATM. Am. J. Med. Genet. A, 182 (12). S. 2971 - 2976. HOBOKEN: WILEY. ISSN 1552-4833

Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke (2020). De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum. Genet., 139 (11). S. 1363 - 1380. NEW YORK: SPRINGER. ISSN 1432-1203

Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortuem, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmueller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C. and Lin, Zhimiao (2020). Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am. J. Hum. Genet., 107 (1). S. 34 - 46. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Yigit, Goekhan, Saida, Ken, DeMarzo, Danielle, Miyake, Noriko, Fujita, Atsushi, Yang Tan, Tiong, White, Susan M., Wadley, Alexandrea, Toliat, Mohammad R., Motameny, Susanne, Franitza, Marek, Stutterd, Chloe A., Chong, Pin F., Kira, Ryutaro ORCID: 0000-0002-6878-5081, Sengoku, Toru ORCID: 0000-0001-9461-8714, Ogata, Kazuhiro, Guillen Sacoto, Maria J., Fresen, Christine, Beck, Bodo B., Nuernberg, Peter, Dieterich, Christoph, Wollnik, Bernd, Matsumoto, Naomichi and Altmueller, Janine (2020). The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum. Mutat., 41 (3). S. 591 - 600. HOBOKEN: WILEY. ISSN 1098-1004

2019

Bauer, Christiane K., Schneeberger, Pauline E., Kortuem, Fanny, Altmueller, Janine, Santos-Simarro, Fernando ORCID: 0000-0002-1201-9118, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W. and Kutsche, Kerstin (2019). Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. Am. J. Hum. Genet., 104 (6). S. 1139 - 1158. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med., 7 (3). HOBOKEN: WILEY. ISSN 2324-9269

Dafsari, Hormos Salimi, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Wunderlich, Gilbert, Daimagueler, Huelya-Sevcan, Karaca, Ezgi ORCID: 0000-0002-4926-7991, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tulay ORCID: 0000-0002-4644-2774, Kloss, Manja, Horn, Annette, Pauls, Amande, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne and Cirak, Sebahattin (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J. Hum. Genet., 64 (8). S. 803 - 814. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Dennenmoser, Stefan, Sedlazeck, Fritz J., Schatz, Michael C., Altmueller, Janine, Zytnicki, Matthias and Nolte, Arne W. (2019). Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish. Mol. Ecol., 28 (6). S. 1491 - 1506. HOBOKEN: WILEY. ISSN 1365-294X

Florian, Rahel T., Kraft, Florian ORCID: 0000-0002-5324-9155, Leitao, Elsa ORCID: 0000-0001-5051-9714, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi ORCID: 0000-0003-3036-9266, van Rootselaar, Anne-Fleur ORCID: 0000-0002-8376-9098, Buratti, Julien ORCID: 0000-0002-0901-0905, Kuehnel, Theresa, Schroeder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, lamiral, AnaiDe, Keren, Boris, Nava, Caroline ORCID: 0000-0003-1272-0518, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-Francois, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle ORCID: 0000-0002-2050-3911, Hirsch, Edouard, Kroes, Thessa ORCID: 0000-0003-1416-5407, Reif, Philipp S., Rosenow, Felix, Ganos, Christos ORCID: 0000-0001-8077-8530, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Berkovic, Samuel F., Bisulli, Francesca, Brancati, Francesco, Canafoglia, Laura, Casari, Giorgio, Guerrini, Renzo, Ishiura, Hiroyuki, Licchetta, Laura, Mei, Davide, Pippucci, Tommaso, Sadleir, Lynette, Scheffer, Ingrid E., Striano, Pasquale ORCID: 0000-0002-6065-1476, Tinuper, Paolo, Tsuji, Shoji, Zara, Federico, LeGuern, Eric, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie ORCID: 0000-0001-5132-0774, Gecz, Jozef ORCID: 0000-0002-7884-6861, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M. and Depienne, Christel (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Frerichs, Anneke, Engelhorn, Julia, Altmueller, Janine, Gutierrez-Marcos, Jose ORCID: 0000-0002-5441-9080 and Werr, Wolfgang (2019). Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem. J. Exp. Bot., 70 (15). S. 3867 - 3880. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2431

Grimm, Christina ORCID: 0000-0002-4676-8870, Fischer, Axel ORCID: 0000-0001-6130-6984, Farrelly, Angela M., Kalachand, Roshni, Castiglione, Roberta ORCID: 0000-0002-9828-4405, Wasserburger, Elena, Hussong, Michelle, Schultheis, Anne M., Altmueller, Janine, Thiele, Holger, Reinhardt, H. Christian, Hauschulz, Kai, Hennessy, Bryan T., Herwig, Ralf, Lienhard, Matthias, Buettner, Reinhard and Schweiger, Michal R. (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. J. Mol. Diagn., 21 (2). S. 198 - 214. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Hauke, Jan, Hahnen, Eric, Schneider, Stephanie, Reuss, Alexander, Richters, Lisa, Kommoss, Stefan, Heimbach, Andre, Marme, Frederik, Schmidt, Sandra, Prieske, Katharina, Gevensleben, Heidrun, Burges, Alexander, Borde, Julika, De Gregorio, Nikolaus, Nuernberg, Peter, El-Balat, Ahmed, Thiele, Holger, Hilpert, Felix, Altmueller, Janine, Meier, Werner, Dietrich, Dimo, Kimmig, Rainer, Schoemig-Markiefka, Birgid, Kast, Karin, Braicu, Elena, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Ernst, Corinna, Hanker, Lars, Pfisterer, Jacobus, Schnelzer, Andreas, du Bois, Andreas, Schmutzler, Rita K. and Harter, Philipp (2019). Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). J. Med. Genet., 56 (9). S. 574 - 581. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Heide, Timon, Maurer, Angela, Eipel, Monika, Knoll, Katrin, Geelvink, Mirja, Veeck, Juergen, Knuechel, Ruth, van Essen, Julius, Stoehr, Robert, Hartmann, Arndt, Altmueller, Janine, Graham, Trevor A. and Gaisa, Nadine T. (2019). Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy. J. Pathol., 248 (2). S. 230 - 243. HOBOKEN: WILEY. ISSN 1096-9896

Herberg, Maria, Siebert, Susann, Quaas, Marianne, Thalheim, Torsten, Rother, Karen, Hussong, Michelle, Altmueller, Janine, Kerner, Christiane, Galle, Joerg, Schweiger, Michal R. and Aust, Gabriela (2019). Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine. Clin. Epigenetics, 11. LONDON: BMC. ISSN 1868-7083

Jurkute, Neringa ORCID: 0000-0002-3092-7451, Leu, Costin, Pogoda, Hans-Martin, Arno, Gavin, Robson, Anthony G., Nuernberg, Gudrun, Altmueller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Hoehne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nuernberg, Peter, Yu-Wai-Man, Patrick and Votruba, Marcela ORCID: 0000-0002-7680-9135 (2019). SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann. Neurol., 86 (3). S. 368 - 384. HOBOKEN: WILEY. ISSN 1531-8249

Kalasova, Ilona ORCID: 0000-0001-8235-1805, Hanzlikova, Hana ORCID: 0000-0001-7235-7269, Gupta, Neerja, Li, Yun, Altmueller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Goekhan and Caldecott, Keith W. (2019). Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ. Neurol.-Genet., 5 (2). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Karakaya, Mert, Paketci, Cem ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am. J. Med. Genet. A, 179 (8). S. 1580 - 1585. HOBOKEN: WILEY. ISSN 1552-4833

Kause, Franziska ORCID: 0000-0002-0074-8962, Zhang, Rong, Ludwig, Michael, Schmiedeke, Eberhard, Rissmann, Anke, Thiele, Holger, Altmueller, Janine, Herms, Stefan, Hilger, Mina C., Hildebrandt, Friedhelm and Reutter, Heiko (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res., 111 (10). S. 591 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Kivivirta, Kimmo, Herbert, Denise, Lange, Matthias, Beuerlein, Knut, Altmueller, Janine and Becker, Annette ORCID: 0000-0002-3229-2162 (2019). A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant. Plant Methods, 15 (1). LONDON: BMC. ISSN 1746-4811

Kmietczyk, Vivien, Riechert, Eva ORCID: 0000-0003-4876-7860, Kalinski, Laura, Boileau, Etienne, Malovrh, Ellen ORCID: 0000-0003-0911-6125, Malone, Brandon, Gorska, Agnieszka, Hofmann, Christoph ORCID: 0000-0002-3389-6582, Varma, Eshita, Juergensen, Lonny, Kamuf-Schenk, Verena, Altmueller, Janine, Tappu, Rewati, Busch, Martin, Most, Patrick, Katus, Hugo A., Dieterich, Christoph and Voelkers, Mirko (2019). m(6)A-mRNA methylation regulates cardiac gene expression and cellular growth. Life Sci. Alliance, 2 (2). COLD SPRING HARBOR: LIFE SCIENCE ALLIANCE LLC. ISSN 2575-1077

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F. J., van Rooij, Iris A. L. M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C., Moosa, Shahida ORCID: 0000-0002-4463-3067, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M., Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex, V, Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R., Brooks, Brian P. and Sefiani, Abdelaziz (2019). Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Lindner, Angie, Marbach, Felix, Tschernitz, Sebastian, Ortner, Christine, Berneburg, Mark, Felthaus, Oliver, Prantl, Lukas, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Rappl, Gunter, Altmueller, Janine, Thieles, Holger, Schreml, Stephan ORCID: 0000-0002-2820-1942 and Schreml, Julia (2019). Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Dukic, Dejan, Hsieh, Tzung-Chien ORCID: 0000-0003-3828-4419, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz ORCID: 0000-0003-0017-8338, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor ORCID: 0000-0003-4496-244X and Netzer, Christian (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. Am. J. Hum. Genet., 104 (4). S. 749 - 758. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Moosa, Shahida ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am. J. Hum. Genet., 105 (4). S. 836 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba ORCID: 0000-0001-5371-6756, Rousseau, Justine ORCID: 0000-0002-3554-2673, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian ORCID: 0000-0002-2768-1702, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna ORCID: 0000-0002-7560-797X, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth ORCID: 0000-0001-6749-3661, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh and Campeau, Philippe M. (2019). Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am. J. Hum. Genet., 105 (2). S. 384 - 395. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Niestroj, Lisa-Marie, May, Patrick ORCID: 0000-0001-8698-3770, Artomov, Mykyta ORCID: 0000-0001-5282-8764, Kobow, Katja ORCID: 0000-0002-0074-2480, Coras, Roland, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J., Klein, Karl Martin ORCID: 0000-0002-6654-1665, Beschorner, Rudi, Weber, Yvonne G., Bluemcke, Ingmar and Lal, Dennis (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur. J. Hum. Genet., 27 (11). S. 1738 - 1745. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Preising, Markus N., Goerg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmueller, Janine, Herebian, Diran ORCID: 0000-0002-8528-0122, Beyer, Mila, Zoellner, Helge J., Wittsack, Hans-Joerg, Schaper, Joerg, Klee, Dirk, Zechner, Ulrich, Nuernberg, Peter, Schipper, Joerg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit ORCID: 0000-0002-9737-8127, Haeussinger, Dieter and Bolz, Hanno J. (2019). Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Faseb J., 33 (10). S. 11507 - 11528. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Renner, Sina, Schueler, Helke, Alawi, Malik, Kolbe, Verena, Rybczynski, Meike, Woitschach, Rixa, Sheikhzadeh, Sara, Stark, Veronika C., Olfe, Jakob, Roser, Elke, Seggewies, Friederike Sophia, Mahlmann, Adrian, Hempel, Maja, Hartmann, Melanie J., Hillebrand, Mathias, Wieczorek, Dagmar, Volk, Alexander Erich, Kloth, Katja, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Mitter, Diana, Altmueller, Janine, Wey-Fabrizius, Alexandra, Petersen, Christine, Rau, Isabella, Borck, Guntram, Kubisch, Christian, Mir, Thomas S., von Kodolitsch, Yskert, Kutsche, Kerstin and Rosenberger, Georg (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet. Med., 21 (8). S. 1832 - 1842. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Wagener, Rabea, Seufert, Julian, Raimondi, Francesco, Bens, Susanne, Kleinheinz, Kortine, Nagel, Inga, Altmueller, Janine, Thiele, Holger, Huebschmann, Daniel, Kohler, Christian W., Nuernberg, Peter, Au-Yeung, Rex, Burkhardt, Birgit, Horn, Heike, Leoncini, Lorenzo, Jaffe, Elaine S., Ott, German, Rymkiewicz, Grzegorz ORCID: 0000-0002-3478-8014, Schlesner, Matthias ORCID: 0000-0002-5896-4086, Russell, Robert B., Klapper, Wolfram and Siebert, Reiner (2019). The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood, 133 (9). S. 962 - 967. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Noethe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas ORCID: 0000-0002-6699-0014, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhan B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmueller, Janine, Krenz, Henrike, Woeste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J. and Omran, Heymut (2019). De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am. J. Hum. Genet., 105 (5). S. 1030 - 1040. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horvath, Judit, Niederacher, Dieter, Arnold, Norbert ORCID: 0000-0003-4523-8808, Kaulfuss, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmueller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nuernberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric and Hauke, Jan (2019). Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res., 21. LONDON: BMC. ISSN 1465-542X

2018

Ackermann, Sandra ORCID: 0000-0002-5869-7344, Cartolano, Maria, Hero, Barbara, Welte, Anne, Kahlert, Yvonne, Roderwieser, Andrea, Bartenhagen, Christoph, Walter, Esther, Gecht, Judith, Kerschke, Laura, Volland, Ruth, Menon, Roopika, Heuckmann, Johannes M., Gartlgruber, Moritz, Hartlieb, Sabine ORCID: 0000-0003-3746-7010, Henrich, Kai-Oliver, Okonechnikov, Konstantin, Altmueller, Janine, Nuernberg, Peter, Lefever, Steve, de Wilde, Bram, Sand, Frederik, Ikram, Fakhera, Rosswog, Carolina, Fischer, Janina, Theissen, Jessica, Hertwig, Falk ORCID: 0000-0003-4784-6516, Singhi, Aatur D., Simon, Thorsten, Vogel, Wenzel, Perner, Sven, Krug, Barbara, Schmidt, Matthias, Rahmann, Sven, Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Vokuhl, Christian, Ortmann, Monika, Buettner, Reinhard, Eggert, Angelika, Speleman, Frank, O'Sullivan, Roderick J., Thomas, Roman K., Berthold, Frank, Vandesompele, Jo, Schramm, Alexander, Westermann, Frank, Schulte, Johannes H., Peifer, Martin and Fischer, Matthias (2018). A mechanistic classification of clinical phenotypes in neuroblastoma. Science, 362 (6419). S. 1165 - 1205. WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1095-9203

Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2018). Late diagnosis of a truncating W1SP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. Cold Spring Harb. Mol. Case Stud., 4 (1). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Krause, Roland ORCID: 0000-0001-9938-7126, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz ORCID: 0000-0002-6998-5480, Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Lal, Dennis, Nrnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Balling, Rudi ORCID: 0000-0003-2902-5650, Lerche, Holger and Neubauer, Bernd A. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur. J. Hum. Genet., 26 (2). S. 258 - 265. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Boehm, Volker ORCID: 0000-0001-7588-9842, Britto-Borges, Thiago, Steckelberg, Anna-Lena ORCID: 0000-0001-7988-9946, Singh, Kusum K., Gerbracht, Jennifer V. ORCID: 0000-0002-3377-4649, Gueney, Elif, Blazquez, Lorea, Altmueller, Janine, Dieterich, Christoph and Gehring, Niels H. (2018). Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity. Mol. Cell, 72 (3). S. 482 - 503. CAMBRIDGE: CELL PRESS. ISSN 1097-4164

Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan ORCID: 0000-0003-3377-7599, Asif, Maria, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Daga, Ankana, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman ORCID: 0000-0001-9802-6783, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung ORCID: 0000-0002-8741-6177, Warejko, Jillian K., Hermle, Tobias ORCID: 0000-0002-0441-7749, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmueller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroglu, Erkin ORCID: 0000-0002-6863-8866, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nuernberg, Peter, Khokha, Mustafa K. and Hildebrandt, Friedhelm (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J. Clin. Invest., 128 (10). S. 4313 - 4329. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Broekaert, Ilse Julia, Becker, Kerstin, Gottschalk, Ingo, Koerber, Friederike, Doetsch, Joerg, Thiele, Holer, Altmueller, Janine, Nuernberg, Peter, Huenseler, Christoph and Cirak, Sebahattin (2018). Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J. Med. Genet., 55 (9). S. 637 - 641. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Demenais, Florence ORCID: 0000-0001-8361-0936, Margaritte-Jeannin, Patricia, Barnes, Kathleen C., Cookson, William O. C., Altmueller, Janine, Ang, Wei, Barr, R. Graham, Beaty, Terri H., Becker, Allan B., Beilby, John ORCID: 0000-0002-4915-2254, Bisgaard, Hans ORCID: 0000-0003-4131-7592, Bjornsdottir, Unnur Steina, Bleecker, Eugene, Bonnelykke, Klaus ORCID: 0000-0003-2003-1018, Boomsma, Dorret I., Bouzigon, Emmanuelle ORCID: 0000-0001-5756-4286, Brightling, Christopher E., Brossard, Myriam, Brusselle, Guy G., Burchard, Esteban, Burkart, Kristin M., Bush, Andrew, Chan-Yeung, Moira, Chung, Kian Fan ORCID: 0000-0001-7101-1426, Alves, Alexessander Couto, Curtin, John A., Custovic, Adnan ORCID: 0000-0001-5218-7071, Daley, Denise, de Jongste, Johan C., Del-Rio-Navarro, Blanca E., Donohue, Kathleen M., Duijts, Liesbeth, Eng, Celeste, Eriksson, Johan G., Farrall, Martin, Fedorova, Yuliya ORCID: 0000-0002-9344-828X, Feenstra, Bjarke, Ferreira, Manuel A., Freidin, Maxim B., Gajdos, Zofia, Gauderman, Jim, Gehring, Ulrike, Geller, Frank ORCID: 0000-0002-9238-3269, Genuneit, Jon, Gharib, Sina A., Gilliland, Frank, Granell, Raquel ORCID: 0000-0002-4890-4012, Graves, Penelope E., Gudbjartsson, Daniel F., Haahtela, Tari, Heckbert, Susan R., Heederik, Dick, Heinrich, Joachim ORCID: 0000-0002-9620-1629, Heliovaara, Markku, Henderson, John, Himes, Blanca E., Hirose, Hiroshi, Hirschhorn, Joel N., Hofman, Albert, Holt, Patrick ORCID: 0000-0003-1193-0935, Hottenga, Jouke, Hudson, Thomas J., Hui, Jennie ORCID: 0000-0002-1653-2496, Imboden, Medea, Ivanov, Vladimir, Jaddoe, Vincent W. V., James, Alan, Janson, Christer, Jarvelin, Marjo-Riitta, Jarvis, Deborah ORCID: 0000-0002-1753-3896, Jones, Graham, Jonsdottir, Ingileif, Jousilahti, Pekka, Kabesch, Michael, Kahonen, Mika ORCID: 0000-0002-4510-7341, Kantor, David B., Karunas, Alexandra S., Khusnutdinova, Elza, Koppelman, Gerard H., Kozyrskyj, Anita L., Kreiner, Eskil, Kubo, Michiaki, Kumar, Rajesh, Kumar, Ashish, Kuokkanen, Mikko ORCID: 0000-0003-4375-9327, Lahousse, Lies ORCID: 0000-0002-3494-4363, Laitinen, Tarja, Laprise, Catherine ORCID: 0000-0001-5526-9945, Lathrop, Mark, Lau, Susanne, Lee, Young-Ae, Lehtimaki, Terho, Letort, Sebastien, Levin, Albert M., Li, Guo, Liang, Liming, Loehr, Laura R., London, Stephanie J., Loth, Daan W., Manichaikul, Ani, Marenholz, Ingo, Martinez, Fernando J., Matheson, Melanie C., Mathias, Rasika A., Matsumoto, Kenji, Mbarek, Hamdi ORCID: 0000-0002-1108-0371, McArdle, Wendy L., Melbye, Mads, Melen, Erik, Meyers, Deborah, Michel, Sven, Mohamdi, Hamida, Musk, Arthur W., Myers, Rachel A., Nieuwenhuis, Maartje A. E., Noguchi, Emiko, O'Connor, George T., Ogorodova, Ludmila M., Palmer, Cameron D., Palotie, Aarno, Park, Julie E., Pennell, Craig E., Pershagen, Goran, Polonikov, Alexey ORCID: 0000-0001-6280-247X, Postma, Dirkje S., Probst-Hensch, Nicole, Puzyrev, Valery P., Raby, Benjamin A., Raitakari, Olli T., Ramasamy, Adaikalavan ORCID: 0000-0002-7598-2892, Rich, Stephen S., Robertson, Colin F., Romieu, Isabelle, Salam, Muhammad T., Salomaa, Veikko, Schlunssen, Vivi ORCID: 0000-0003-4915-1734, Scott, Robert, Selivanova, Polina A., Sigsgaard, Torben ORCID: 0000-0002-2043-7571, Simpson, Angela ORCID: 0000-0003-2733-6666, Siroux, Valerie, Smith, Lewis J., Solodilova, Maria, Standl, Marie ORCID: 0000-0002-5345-2049, Stefansson, Kari, Strachan, David P., Stricker, Bruno H., Takahashi, Atsushi, Thompson, Philip J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiesler, Carla M. T., Torgerson, Dara G., Tsunoda, Tatsuhiko ORCID: 0000-0002-5439-7918, Uitterlinden, Andre G., van der Valk, Ralf J. P., Vaysse, Amaury ORCID: 0000-0003-2397-4230, Vedantam, Sailaja, von Berg, Andrea, von Mutius, Erika, Vonk, Judith M., Waage, Johannes, Wareham, Nick J., Weiss, Scott T., White, Wendy B., Wickman, Magnus, Widen, Elisabeth, Willemsen, Gonneke ORCID: 0000-0003-3755-0236, Williams, L. Keoki, Wouters, Inge M., Yang, James J., Zhao, Jing Hua, Moffatt, Miriam F., Ober, Carole ORCID: 0000-0003-4626-9809 and Nicolae, Dan L. (2018). Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nature Genet., 50 (1). S. 42 - 56. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Goncalves, Ines do Carmo G., Brecht, Johanna, Thelen, Maximilian P., Rehorst, Wiebke A., Peters, Miriam, Lee, Hyun Ju, Motameny, Susanne, Torres-Benito, Laura, Ebrahimi-Fakhari, Darius ORCID: 0000-0002-0026-4714, Kononenko, Natalia L., Altmueller, Janine, Vilchez, David ORCID: 0000-0002-0801-0743, Sahin, Mustafa, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Kye, Min Jeong ORCID: 0000-0002-1323-7256 (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Goncalves, Ines do Carmo G., Brecht, Johanna, Thelen, Maximilian P., Rehorst, Wiebke A., Peters, Miriam, Lee, Hyun Ju, Motameny, Susanne, Torres-Benito, Laura, Ebrahimi-Fakhari, Darius ORCID: 0000-0002-0026-4714, Kononenko, Natalia L., Altmueller, Janine, Vilchez, David, Sahin, Mustafa, Wirth, Brunhilde and Kye, Min Jeong (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy (vol 8, 7907, 2018). Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Hauke, Jan, Horvath, Judit, Gross, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert ORCID: 0000-0003-4523-8808, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber-Lassalle, Nana, Weber-Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmueller, Janine, Volk, Alexander E., Thiele, Holger, Huebbel, Verena, Nuernberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian ORCID: 0000-0003-4220-0978, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian ORCID: 0000-0001-9915-1287, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (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. Cancer Med., 7 (4). S. 1349 - 1359. HOBOKEN: WILEY. ISSN 2045-7634

Herling, Carmen D., Abedpour, Nima, Weiss, Jonathan, Schmitt, Anna, Jachimowicz, Ron Daniel, Merkel, Olaf ORCID: 0000-0001-5089-344X, Cartolano, Maria, Oberbeck, Sebastian, Mayer, Petra, Berg, Valeska, Thomalla, Daniel, Kutsch, Nadine, Stiefelhagen, Marius, Cramer, Paula, Wendtner, Clemens-Martin ORCID: 0000-0003-2866-2260, Persigehl, Thorsten, Saleh, Andreas, Altmueller, Janine, Nuernberg, Peter, Pallasch, Christian, Achter, Viktor, Lang, Ulrich, Eichhorst, Barbara, Castiglione, Roberta ORCID: 0000-0002-9828-4405, Schaefer, Stephan C., Buettner, Reinhard, Kreuzer, Karl-Anton, Reinhardt, Hans Christian, Hallek, Michael, Frenzel, Lukas P. and Peifer, Martin ORCID: 0000-0002-5243-5503 (2018). Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Irmak, Dilber, Fatima, Azra, Gutierrez-Garcia, Ricardo, Rinschen, Markus M., Wagle, Prerana, Altmueller, Janine, Arrigoni, Laura, Hummel, Barbara ORCID: 0000-0001-6563-3675, Klein, Corinna, Frese, Christian K., Sawarkar, Ritwick, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341 and Vilchez, David ORCID: 0000-0002-0801-0743 (2018). Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations. Hum. Mol. Genet., 27 (23). S. 4117 - 4135. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmueller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, Andre G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Sander, Thomas, Neubauer, Bernd A., May, Patrick ORCID: 0000-0001-8698-3770, Lerche, Holger and Nuernberg, Peter (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One, 13 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Kalbe, Benjamin, Osterloh, Markus, Schulz, Viola M., Altmueller, Janine, Becker, Christian, Osterloh, Sabrina and Hatt, Hanns (2018). OR2H2 regulates the differentiation of human myoblast cells by its ligand aldehyde 13-13. Arch. Biochem. Biophys., 645. S. 72 - 81. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1096-0384

Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum. Mutat., 39 (9). S. 1284 - 1299. HOBOKEN: WILEY. ISSN 1098-1004

Kause, Franziska, Reutter, Heiko, Marsch, Florian, Thiele, Holger, Altmueller, Janine, Ludwig, Michael and Zhang, Rong (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? Mol. Med. Rep., 17 (2). S. 3200 - 3206. ATHENS: SPANDIDOS PUBL LTD. ISSN 1791-3004

Lanver, Daniel, Mueller, Andre N., Happel, Petra, Schweizer, Gabriel ORCID: 0000-0002-8679-4598, Haas, Fabian B., Franitza, Marek, Pellegrin, Clement ORCID: 0000-0002-6591-655X, Reissmann, Stefanie, Altmueller, Janine, Rensing, Stefan A. and Kahmann, Regine (2018). The Biotrophic Development of Ustilago maydis Studied by RNA-Seq Analysis. Plant Cell, 30 (2). S. 300 - 324. ROCKVILLE: AMER SOC PLANT BIOLOGISTS. ISSN 1532-298X

Leblay, Noemie, Alcala, Nicolas, Marin, David Hervas, Delhomme, Tiffany M., Giffon, Theo, Ghantous, Akram, Chabrier, Amelie, Cuenin, Cyrille, Altmueller, Janine, Durand, Geoffroy, Voegele, Catherine, Lorimier, Philippe, Toffart, Anne-Claire, Derks, Jules, Brustugun, Odd Terje, Clement, Joachim H., Saenger, Joerg, Field, John K., Soltermann, Alex, Wright, Gavin M., Roz, Luca ORCID: 0000-0001-5817-7149, Muscarella, Lucia Anna, Graziano, Paolo, Herceg, Zdenko, Speel, Ernst-Jan, Nuernberg, Peter, McKay, James, Girard, Nicolas, Lantuejoul, Sylvie, Sandoval, Juan, Brambilla, Elisabeth, Foll, Matthieu and Fernandez-Cuesta, Lynnette (2018). Multi-omics comparative analyses of pulmonary typical carcinoids, atypical carcinoids, and large-cell neuroendocrine carcinoma. Cancer Res., 78 (13). PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445

Lopez, Cristina ORCID: 0000-0001-6644-1659, Wagener, Rabea, Kleinheinz, Kortine, Bausinger, Julia, Aukema, Sietse M., Nagel, Inga, Toprak, Umut H., Seufert, Julian, Altmueller, Janine, Thiele, Holger, Schneider, Christof, Kolarova, Julia, Park, Jeongbin, Huebschmann, Daniel, Penas, Eva M. Murga, Drexler, Hans G., Attarbaschi, Andishe, Hovland, Randi, Kjeldsen, Eigil, Kneba, Michael, Kontny, Udo, de Leval, Laurence ORCID: 0000-0003-3994-516X, Nuernberg, Peter, Oschlies, Ilske, Oscier, David, Schlegelberger, Brigitte, Stilgenbauer, Stephan, Woessmann, Wilhelm, Schlesner, Matthias, Burkhardt, Birgit, Klapper, Wolfram, Jaffe, Elaine S., Kueppers, Ralf and Siebert, Reiner (2018). IG-MYC-positive leukemia and lymphoma with precursor B-cell phenotype are genetically and epigenetically distinct from Burkitt lymphomas. Br. J. Haematol., 182. S. 19 - 21. HOBOKEN: WILEY. ISSN 1365-2141

Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sarlos, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmueller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A. Y., Barraza-Garcia, Jimena, Begtrup, Amber, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Grainne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito ORCID: 0000-0003-4978-1680, Kohda, Masakazu, Stabej, Polona Le Quesne, Malallah, Asam Jassim, Nuernberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria Jose, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel ORCID: 0000-0001-7758-0312, Wilson, Carolyn, Yigit, Goekhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D. and Jackson, Andrew P. (2018). Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am. J. Hum. Genet., 103 (2). S. 221 - 232. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Matei, Alexandra, Ernst, Corinna, Guenl, Markus, Thiele, Bjoern, Altmueller, Janine, Walbot, Virginia, Usadel, Bjoern and Doehlemann, Gunther ORCID: 0000-0002-7353-8456 (2018). How to make a tumour: cell type specific dissection of Ustilago maydis-induced tumour development in maize leaves. New Phytol., 217 (4). S. 1681 - 1696. HOBOKEN: WILEY. ISSN 1469-8137

May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin ORCID: 0000-0003-3026-3082, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven ORCID: 0000-0002-4960-6375, Mantegazza, Massimo ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland ORCID: 0000-0001-9938-7126 and Lerche, Holger (2018). Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol., 17 (8). S. 699 - 709. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

Mross, Carmen, Marko, Marija, Munck, Martina, Gloeckner, Gernot, Motameny, Susanne, Altmueller, Janine, Noegel, Angelika A., Eichinger, Ludwig ORCID: 0000-0003-1594-6117, Peche, Vivek S. and Neumann, Sascha (2018). Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice. Nucleus, 9 (1). S. 503 - 516. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1949-1042

Pankin, Artem ORCID: 0000-0002-1149-9746, Altmueller, Janine, Becker, Christian and von Korff, Maria (2018). Targeted resequencing reveals genomic signatures of barley domestication. New Phytol., 218 (3). S. 1247 - 1260. HOBOKEN: WILEY. ISSN 1469-8137

Paolacci, Stefano ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C. (2018). Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J. Med. Genet., 55 (12). S. 837 - 846. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Peeva, Viktoriya, Blei, Daniel, Trombly, Genevieve, Corsi, Sarah ORCID: 0000-0002-8680-7870, Szukszto, Maciej J., Rebelo-Guiomar, Pedro, Gammage, Payam A., Kudin, Alexei P., Becker, Christian, Altmueller, Janine, Minczuk, Michal, Zsurka, Gabor ORCID: 0000-0002-6379-849X and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2018). Linear mitochondrial DNA is rapidly degraded by components of the replication machinery. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander ORCID: 0000-0002-2131-4581, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Ellwanger, Juergen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Luetjohann, Dieter, Frank, Jorge, Geyer, Matthias ORCID: 0000-0002-7718-5002, Bertolini, Marta ORCID: 0000-0002-5927-6998, Kokordelis, Pavlos and Betz, Regina C. (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am. J. Hum. Genet., 103 (5). S. 777 - 786. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X and Konrad, Martin (2018). Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am. J. Hum. Genet., 103 (5). S. 808 - 817. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Vasileiou, Georgia ORCID: 0000-0002-1993-1134, Vergarajauregui, Silvia ORCID: 0000-0002-9247-6123, Endele, Sabine, Popp, Bernt ORCID: 0000-0002-3679-1081, Buettner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmueller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renee, Cho, Megan T., Thiel, Christian T., Luedecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo ORCID: 0000-0001-6399-6528, Wilkie, Andrew O. M., Wieczorek, Dagmar, Engel, Felix B. ORCID: 0000-0003-2605-3429 and Reis, Andre ORCID: 0000-0002-6301-6363 (2018). Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am. J. Hum. Genet., 102 (3). S. 468 - 480. CAMBRIDGE: CELL PRESS. ISSN 1537-6605