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Journal Article

Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie ORCID: 0000-0001-5132-0774, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin ORCID: 0000-0003-0044-4632, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng ORCID: 0000-0002-0460-7446, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andres, Jamnadas-Khoda, Jennifer ORCID: 0000-0002-3372-4924, Johnson, Michael R., Kalviainen, Reetta, Kantanen, Anne-Mari, Kasperaviciute, Dalia, Trenite, Dorothee Kasteleijn-Nolst, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland ORCID: 0000-0001-9938-7126, Krenn, Martin ORCID: 0000-0003-3026-3082, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin ORCID: 0000-0003-0598-3301, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia ORCID: 0000-0002-6221-6822, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Moller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Noethen, Markus M., Nuernberg, Peter, O'Brien, Terence J., Oliver, Karen L., Palotie, Aarno, Pangilinan, Faith, Peter, Sarah, Petrovski, Slave, Poduri, Annapurna, Privitera, Michael, Radtke, Rodney, Rau, Sarah, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sham, Pak C., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, Alexander, Smith, David F., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug ORCID: 0000-0002-0096-9765, Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Stevelink, Remi, Strauch, Konstantin, Striano, Pasquale ORCID: 0000-0002-6065-1476, Stroink, Hans, Surges, Rainer, Tan, K. Meng, Thio, Liu Lin ORCID: 0000-0002-9779-7903, Thomas, G. Neil, Todaro, Marian, Tozzi, Rossana, Vari, Maria S., Vining, Eileen P. G., Visscher, Frank, von Spiczak, Sarah, Walley, Nicole M., Weber, Yvonne G., Wei, Zhi ORCID: 0000-0001-6059-4267, Weisenberg, Judith, Whelan, Christopher D., Widdess-Walsh, Peter, Wolff, Markus ORCID: 0000-0001-5640-0888, Wolking, Stefan ORCID: 0000-0002-1460-6623, Yang, Wanling, Zara, Federico and Zimprich, Fritz ORCID: 0000-0002-6998-5480 (2018). Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

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, 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

Acuna, Mariana, Martinez, Pablo, Moraga, Carol, He, Xingxuan, Moraga, Mauricio, Hunter, Bessie, Nuernberg, Peter, Gutierrez, Rodrigo A., Gonzalez, Mauricio, Schuchman, Edward H., Luis Santos, Jose, Francisco Miquel, Juan, Mabe, Paulina and Zanlungo, Silvana (2016). Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. Eur. J. Hum. Genet., 24 (2). S. 208 - 214. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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

Altmueller, Janine, Motameny, Susanne, Becker, Christian, Thiele, Holger, Chatterjee, Sreyoshi, Wollnik, Bernd and Nuernberg, Peter (2016). A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biol. Chem., 397 (8). S. 791 - 802. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1437-4315

Ammann, Sandra ORCID: 0000-0003-0385-1890, Schulz, Ansgar, Kraegeloh-Mann, Ingeborg, Dieckmann, Nele M. G., Niethammer, Klaus, Fuchs, Sebastian ORCID: 0000-0001-9191-7970, Eckl, Katja Martina, Plank, Roswitha, Werner, Roland, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Bank, Julia, Strauss, Anne, von Bernuth, Horst, zur Stadt, Udo, Grieve, Samantha, Griffiths, Gillian M., Lehmberg, Kai, Hennies, Hans Christian and Ehl, Stephan (2016). Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). S. 997 - 1007. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Bamborschke, Daniel, Daimagueler, Huelya-Sevcan, Hahn, Andreas, Hussain, Muhammad S., Nuernberg, Peter and Cirak, Sebahattin (2020). Mutation inCEP135causing primary microcephaly and subcortical heterotopia. Am. J. Med. Genet. A, 182 (10). S. 2450 - 2454. HOBOKEN: WILEY. ISSN 1552-4833

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

Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre ORCID: 0000-0003-1530-5811, Gieger, Christian ORCID: 0000-0001-6986-9554, Strauch, Konstantin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter and Hennies, Hans Christian (2016). Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Bey, Katharina, Lennertz, Leonhard, Markett, Sebastian, Petrovsky, Nadine, Gallinat, Juergen, Gruender, Gerhard, Spreckelmeyer, Katja N., Wienker, Thomas F., Mobascher, Arian, Dahmen, Norbert, Thuerauf, Norbert, Kornhuber, Johannes ORCID: 0000-0002-8096-3987, Kiefer, Falk, Toliat, Mohammad R., Nuernberg, Peter, Winterer, Georg and Wagner, Michael ORCID: 0000-0003-2589-6440 (2016). Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample. Eur. Neuropsychopharmacol., 26 (1). S. 150 - 156. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1873-7862

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

Boegershausen, Nina, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Yigit, Goekhan, Kayserili, Huelya, Nuernberg, Peter, Li, Yun, Altmueller, Janine and Wollnik, Bernd (2016). An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity. Am. J. Med. Genet. A, 170 (12). S. 3282 - 3289. HOBOKEN: WILEY. ISSN 1552-4833

Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Tzschach, Andreas ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd (2016). Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum. Mutat., 37 (9). S. 847 - 865. HOBOKEN: WILEY. ISSN 1098-1004

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

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

Bustos, Bernabe I., Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Buch, Stephan, Azocar, Lorena, Riveras, Eleodoro, Ugarte, Giorgia D., Toliat, Mohammad, Nuernberg, Peter, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Schoenfels, Witigo, Schafmayer, Clemens, Voelzke, Henry, Voelker, Uwe, Homuth, Georg, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Luis Santos, Jose, Puschel, Klaus, Bambs, Claudia, Carlos Roa, Juan, Gutierrez, Rodrigo A., Hampe, Jochen ORCID: 0000-0002-2421-6127, De Ferrari, Giancarlo V. and Francisco Miquel, Juan (2019). Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Claushuis, Theodora A. M., van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Klouwenberg, Peter M. C. Klein, Hoogendijk, Arie J., Ong, David S. Y., Cremer, Olaf L., Horn, Janneke, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Zwinderman, Aeilko H., Bonten, Marc J., Schultz, Marcus J. and van der Poll, Tom (2016). Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients. Blood, 127 (24). S. 3062 - 3073. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Cetica, Valentina, Lal, Dennis, Djemie, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank ORCID: 0000-0003-2024-0485, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia ORCID: 0000-0001-5608-5902, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale ORCID: 0000-0002-6065-1476, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Moller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Clementella, Claudia, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina ORCID: 0000-0002-3954-326X, Holmgren, Philip, Leu, Costin, Mari, Francesco, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana ORCID: 0000-0001-8920-9078, Rosati, Anna ORCID: 0000-0002-8754-7214, Sander, Josemir, Schoeler, Natasha ORCID: 0000-0001-6202-1497, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke ORCID: 0000-0002-6713-2943 and Zuffardi, Orsetta (2019). Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia, 60 (4). S. 689 - 707. HOBOKEN: WILEY. ISSN 1528-1167

Crispatzu, Giuliano, Kulkarni, Pranav, Toliat, Mohammad R., Nuernberg, Peter, Herling, Marco, Herling, Carmen D. and Frommolt, Peter ORCID: 0000-0002-1966-8014 (2017). Semi-automated cancer genome analysis using high-performance computing. Hum. Mutat., 38 (10). S. 1325 - 1336. HOBOKEN: WILEY. ISSN 1098-1004

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, Kawalia, Amit, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nuernberg, Peter, Motameny, Susanne, Thiele, Holger and Cirak, Sebahattin (2019). Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb. Mol. Case Stud., 5 (6). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

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

Daud, Shakeela, Kakar, Naseebullah, Goebel, Ingrid, Hashmi, Abu Saeed, Yaqub, Tahir ORCID: 0000-0001-8698-3818, Nuernberg, Gudrun, Nuernberg, Peter, Morris-Rosendahl, Deborah J., Wasim, Muhammad, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jainil and Borck, Guntram (2016). Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Amyotroph. Lateral Scher. Frontotemp. Degenerat., 17 (3-4). S. 260 - 266. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 2167-9223

Ding, Chao, Scicluna, Brendon P., Stroo, Ingrid, Yang, Jack, Roelofs, Joris J. T. H., de Boer, Onno J., de Vos, Alex F., Nuernberg, Peter, Revenko, Alexey S., Crosby, Jeff, van't Veer, Cornelis and van der Poll, Tom (2020). Prekallikrein inhibits innate immune signaling in the lung and impairs host defense during pneumosepsis in mice. J. Pathol., 250 (1). S. 95 - 107. HOBOKEN: WILEY. ISSN 1096-9896

Du, Juanjiangmeng, Sudarsanam, Monica, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Ganna, Andrea ORCID: 0000-0002-8147-240X, Francioli, Laurent, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Leu, Costin, Weisburd, Ben, Poterba, Tim, Nuernberg, Peter, Daly, Mark J., Palotie, Aarno, May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2019). Variant Score Ranker-a web application for intuitive missense variant prioritization. Bioinformatics, 35 (21). S. 4478 - 4480. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2059

Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara ORCID: 0000-0002-0939-3213, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmueller, Janine, Netzer, Christian, Thiele, Holger, Nuernberg, Peter, Yigit, Goekhan, Jaeger, Marten, Hecht, Jochen, Krueger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus ORCID: 0000-0003-2824-3891, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Bjoern and Kornak, Uwe (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am. J. Hum. Genet., 101 (5). S. 833 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Eisenberger, Tobias, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nuernberg, Gudrun, Toliat, Mohammad, Nuernberg, Peter, Muerbe, Dirk and Bolz, Hanno Joern (2018). A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. Genet. Med., 20 (6). S. 614 - 622. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

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

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

Forstner, Andreas J., Fischer, Sascha B., Schenk, Lorena M., Strohmaier, Jana ORCID: 0000-0002-4364-1487, Maaser-Hecker, Anna, Reinbold, Celine S., Sivalingam, Sugirthan ORCID: 0000-0001-5239-5137, Hecker, Julian, Streit, Fabian ORCID: 0000-0003-1080-4339, Degenhardt, Franziska, Witt, Stephanie H., Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter, Guzman-Parra, Jose ORCID: 0000-0002-1463-6435, Orozco Diaz, Guillermo, Auburger, Georg, Albus, Margot, Borrmann-Hassenbach, Margitta, Jose Gonzalez, Maria, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Rio Noriega, Francisco, Perez Perez, Fermin, Haro Gonzalez, Jesus, Rivas, Fabio, Mayoral, Fermin, Bauer, Michael, Pfennig, Andrea, Reif, Andreas, Herms, Stefan, Hoffmann, Per, Pirooznia, Mehdi ORCID: 0000-0002-4210-6458, Goes, Fernando S., Rietschel, Marcella, Noethen, Markus M. and Cichon, Sven (2020). Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. Transl. Psychiatr., 10 (1). LONDON: SPRINGERNATURE. ISSN 2158-3188

Gardella, Elena ORCID: 0000-0002-7138-6022, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels ORCID: 0000-0003-2304-0112, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor ORCID: 0000-0002-6035-6581 and Weber, Yvonne G. (2016). Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation. Ann. Neurol., 79 (3). S. 428 - 437. HOBOKEN: WILEY. ISSN 1531-8249

Gardella, Elena ORCID: 0000-0002-7138-6022, Beniczky, Sandor ORCID: 0000-0002-6035-6581, Moller, Rikke S., Becker, Felicitas, Lemke, Johannes R., Syrbe, Steffen, Eiberg, Hans, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Gellert, Pia, Dahl, Hans Atli, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Heron, Sarah E., Dibbens, Leanne M., Hjalgrim, Helle, Lerche, Holger and Weber, Yvonne G. (2016). PKD or Not PKD: That Is the Question Reply. Ann. Neurol., 80 (1). S. 168 - 171. HOBOKEN: WILEY. ISSN 1531-8249

Geisel, Marie H., Coassin, Stefan ORCID: 0000-0001-5677-8979, Hessler, Nicole, Bauer, Marcus, Eisele, Lewin, Erbel, Raimund, Haun, Margot, Hennig, Frauke, Moskau-Hartmann, Susanna, Hoffmann, Barbara, Joeckel, Karl-Heinz, Kedenko, Lyudmyla, Kiechl, Stefan, Kollerits, Barbara, Mahabadi, Amir-Abbas, Moebus, Susanne, Nuernberg, Gudrun, Nuernberg, Peter, Paulweber, Bernhard, Vens, Maren, Willeit, Johann, Willeit, Karin, Klockgether, Thomas, Ziegler, Andreas ORCID: 0000-0002-8386-5397, Scherag, Andre and Kronenberg, Florian ORCID: 0000-0003-2229-1120 (2016). Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study. Atherosclerosis, 249. S. 83 - 88. CLARE: ELSEVIER IRELAND LTD. ISSN 1879-1484

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

Goepel, Wolfgang, Mueller, Mirja, Rabe, Heike ORCID: 0000-0002-2047-8875, Borgmann, Johannes, Rausch, Tanja K., Faust, Kirstin, Kribs, Angela, Doetsch, Joerg, Ellinghaus, David ORCID: 0000-0002-4332-6110, Haertel, Christoph, Roll, Claudia, Szabo, Miklos, Nuernberg, Peter, Franke, Andre, Koenig, Inke R., Turner, Mark A. and Herting, Egbert (2020). Genetic background of high blood pressure is associated with reduced mortality in premature neonates. Arch. Dis. Child.-Fetal Neonatal Ed., 105 (2). S. F184 - 6. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2052

Gordon, Christopher T., Xue, Shifeng ORCID: 0000-0002-4668-5952, Yigit, Goekhan, Filali, Hicham ORCID: 0000-0003-3352-740X, Chen, Kelan ORCID: 0000-0003-1973-5405, Rosins, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J., McGowan, Ruth, Magee, Alex C., Altmueller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D., Nuernberg, Peter, Meschede, Dieter, Muehlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S. Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschke, Patrick, Ragge, Nicola, Levy, Nicolas, Tuncbilek, Goekhan, Teo, Audrey S. M., Cunningham, Michael L., Sefiani, Abdelaziz, Kayserili, Huelya, Murphy, James M., Chatdokmaiprai, Chalermpong, Hillmer, Axel M., Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Magdinier, Frederique ORCID: 0000-0002-0159-9559, Javed, Asif, Blewitt, Marnie E., Amiel, Jeanne, Wollnik, Bernd and Reversade, Bruno (2017). De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genet., 49 (2). S. 249 - 256. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Grassmann, Felix ORCID: 0000-0003-1390-7528, Harsch, Sebastian, Brandl, Caroline ORCID: 0000-0001-8223-6137, Kiel, Christina ORCID: 0000-0003-3154-4847, Nuernberg, Peter, Toliat, Mohammad R., Fleckenstein, Monika, Pfau, Maximilian, Schmitz-Valckenberg, Steffen, Holz, Frank G., Chew, Emily Y., Swaroop, Anand, Ratnapriya, Rinki ORCID: 0000-0002-0469-4631, Klein, Michael L., Mulyukov, Zufar, Zamiri, Parisa and Weber, Bernhard H. F. (2019). Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. JAMA Ophthalmol., 137 (8). S. 867 - 877. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173

Hahnen, Eric, Lederer, Bianca ORCID: 0000-0002-4512-2226, Hauke, Jan, Loibl, Sibylle, Kroeber, Sandra, Schneeweiss, Andreas, Denkert, Carsten, Fasching, Peter A., Blohmer, Jens U., Jackisch, Christian, Paepke, Stefan, Gerber, Bernd, Kuemmel, Sherko, Schem, Christian, Neidhardt, Guido, Huober, Jens, Rhiem, Kerstin, Costa, Serban, Altmueller, Janine, Hanusch, Claus, Thiele, Holger, Mueller, Volkmar, Nuernberg, Peter, Karn, Thomas ORCID: 0000-0002-3264-6573, Nekljudova, Valentina, Untch, Michael, von Minckwitz, Gunter and Schmutzler, Rita K. (2017). Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA Oncol., 3 (10). S. 1378 - 1386. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Hallmann, Kerstin, Kudin, Alexei P., Zsurka, Gabor ORCID: 0000-0002-6379-849X, Kornblum, Cornelia, Reimann, Jens, Stueve, Burkhard, Waltz, Stephan, Hattingen, Elke ORCID: 0000-0002-8392-9004, Thiele, Holger, Nuernberg, Peter, Rueb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain, 139. S. 338 - 346. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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

Harley, Margaret E., Murina, Olga ORCID: 0000-0003-1650-2892, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Goekhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah ORCID: 0000-0002-0077-0991, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sabbioneda, Simone ORCID: 0000-0001-8551-5465, Elcioglu, Nursel H., Altmueller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nuernberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S. and Jackson, Andrew P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genet., 48 (1). S. 36 - 46. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Harter, Philipp, Hauke, Jan, Heitz, Florian ORCID: 0000-0002-2412-0352, Reuss, Alexander, Kommoss, Stefan, Marme, Frederik, Heimbach, Andre, Prieske, Katharina, Richters, Lisa, Burges, Alexander, Neidhardt, Guido, de Gregorio, Nikolaus, El-Balat, Ahmed, Hilpert, Felix, Meier, Werner, Kimmig, Rainer, Kast, Karin, Sehouli, Jalid, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Hanker, Lars, Kroeber, Sandra, Pfisterer, Jacobus, Gevensleben, Heidrun, Schnelzer, Andreas, Dietrich, Dimo, Neunhoeffer, Tanja, Krockenberger, Mathias, Brucker, Sara Y., Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Lamla, Josefin, Elser, Gabriele, du Bois, Andreas, Hahnen, Eric and Schmutzler, Rita (2017). Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One, 12 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Hartz, Annika, Pagel, Julia, Humberg, Alexander, Preuss, Michael ORCID: 0000-0001-5266-8465, Schreiter, Lena, Rupp, Jan, Figge, Julia, Karsten, Christian M., Nuernberg, Peter, Herting, Egbert, Goepel, Wolfgang and Haertel, Christoph (2017). The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants. PLoS One, 12 (5). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Hashmi, Jamil A., Fadhli, Fatima, Almatrafi, Ahmed, Afzal, Sibtain, Ramzan, Khushnooda, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter and Basit, Sulman ORCID: 0000-0003-4294-6825 (2020). Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev., 42 (8). S. 587 - 594. AMSTERDAM: ELSEVIER. ISSN 1872-7131

Hatzold, Julia ORCID: 0000-0002-5491-1921, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Herzig, Hannah, Altmueller, Janine, Nuernberg, Peter, Bloch, Wilhelm, Wollnik, Bernd and Hammerschmidt, Matthias (2016). Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit. eLife, 5. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

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

Hauke, Jan, Heimbach, Andre, Richters, Lisa Katharina, Kroeber, Sandra, Altmuller, Janine, Thiele, Holger, Nuernberg, Peter, Wappenschmidt, Barbara, Neidhardt, Guido, Rhiem, Kerstin, Schmutzler, Rita K. and Hahnen, Eric (2016). Next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families. J. Clin. Oncol., 34 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

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

Herling, Carmen Diana, Klaumuenzer, Marion, Rocha, Cristiano Krings, Altmueller, Janine, Thiele, Holger, Bahlo, Jasmin, Kluth, Sandra, Crispatzu, Giuliano, Herling, Marco, Schiller, Joanna, Engelke, Anja, Tausch, Eugen, Doehner, Hartmut, Fischer, Kirsten, Goede, Valentin, Nuernberg, Peter, Reinhardt, Hans Christian, Stilgenbauer, Stephan, Hallek, Michael and Kreuzer, Karl-Anton (2016). Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy. Blood, 128 (3). S. 395 - 405. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Hessler, Nicole, Geisel, Marie Henrike, Coassin, Stefan ORCID: 0000-0001-5677-8979, Erbel, Raimund, Heilmann, Stefanie, Hennig, Frauke, Hoffmann, Barbara, Joeckel, Karl-Heinz, Moebus, Susanne, Moskau-Hartmann, Susanna, Nuernberg, Gudrun, Nuernberg, Peter, Vens, Maren, Klockgether, Thomas, Kronenberg, Florian ORCID: 0000-0003-2229-1120, Scherag, Andre and Ziegler, Andreas (2016). Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness. Stroke, 47 (12). S. 2904 - 2910. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1524-4628

Horpaopan, Sukanya, Kirfel, Jutta, Peters, Sophia, Kloth, Michael, Hueneburg, Robert, Altmueller, Janine, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Odenthal, Margarete, Kristiansen, Glen, Strassburg, Christian, Nattermann, Jacob, Hoffmann, Per, Nuernberg, Peter, Buettner, Reinhard, Thiele, Holger, Kahl, Philip, Spier, Isabel and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2017). Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered. Cancer Clin. Pract., 15. LONDON: BIOMED CENTRAL LTD. ISSN 1897-4287

Huppke, Peter, Wegener, Eike, Gilley, Jonathan, Angeletti, Carlo, Kurth, Ingo, Drenth, Joost P. H., Stadelmann, Christine ORCID: 0000-0003-1766-5458, Barrantes-Freer, Alonso, Brueck, Wolfgang, Thiele, Holger, Nuernberg, Peter, Gaertner, Jutta, Orsomando, Giuseppe ORCID: 0000-0001-6640-097X and Coleman, Michael P. (2019). Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp. Neurol., 320. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1090-2430

Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kuehn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mueller, Michael and Gaertner, Jutta (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Huson, Michaela A. M., Scicluna, Brendon P., van Vught, Lonneke A., Wiewel, Maryse A., Hoogendijk, Arie J., Cremer, Olaf L., Bonten, Marc J. M., Schultz, Marcus J., Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Grobusch, Martin P. and van der Poll, Tom (2016). The Impact of HIV Co-Infection on the Genomic Response to Sepsis. PLoS One, 11 (2). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Ikram, Fakhera ORCID: 0000-0001-7796-4746, Ackermann, Sandra ORCID: 0000-0002-5869-7344, Kahlert, Yvonne, Volland, Ruth, Roels, Frederik, Engesser, Anne, Hertwig, Falk ORCID: 0000-0003-4784-6516, Kocak, Hayriye, Hero, Barbara, Dreidax, Daniel, Henrich, Kai-Oliver, Berthold, Frank, Nuernberg, Peter, Westermann, Frank and Fischer, Matthias (2016). Transcription factor activating protein 2 beta (TFAP2B) mediates noradrenergic neuronal differentiation in neuroblastoma. Mol. Oncol., 10 (2). S. 344 - 360. OXFORD: ELSEVIER SCI LTD. ISSN 1878-0261

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

Jabbari, Kamel and Nuernberg, Peter (2016). A genomic view on epilepsy and autism candidate genes. Genomics, 108 (1). S. 31 - 37. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1089-8646

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

Kanoungi, George, Nuernberg, Peter and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Pathway-Induced Allelic Spectra of Diseases. Hum. Hered., 81 (4). S. 232 - 233. BASEL: KARGER. ISSN 1423-0062

Kanoungi, George ORCID: 0000-0002-2452-8526, Nuernberg, Peter and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2017). Securing the use of existing sample collections for future human genetic research. Eur. J. Hum. Genet., 25 (5). S. 522 - 530. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Karakaya, Mert, Heller, Raoul, Kunde, Volkmar, Zimmer, Klaus-Peter, Chao, Cho-Ming, Nuernberg, Peter and Cirak, Sebahattin (2016). Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. Neuropediatrics, 47 (4). S. 273 - 278. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

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

Karsak, Meliha, Glebov, Konstantin, Scheffold, Marina, Bajaj, Thomas, Kawalia, Amit, Karaca, Ilker, Rading, Sebastian, Kornhuber, Johannes, Peters, Oliver, Diez-Fairen, Monica ORCID: 0000-0003-1882-0309, Froelich, Lutz, Huell, Michael, Wiltfang, Jens ORCID: 0000-0003-1492-5330, Scherer, Martin, Riedel-Heller, Steffi, Schneider, Anja, Heneka, Michael T., Fliessbach, Klaus, Sharaf, Ahmed, Thiele, Holger, Lennarz, Martina, Jessen, Frank, Maier, Wolfgang, Kubisch, Christian, Ignatova, Zoya, Nuernberg, Peter, Pastor, Pau ORCID: 0000-0002-7493-8777, Walter, Jochen ORCID: 0000-0002-4678-2912 and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2020). A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Hum. Mutat., 41 (1). S. 169 - 182. HOBOKEN: WILEY. ISSN 1098-1004

Khan, Arif O., Becirovic, Elvir ORCID: 0000-0001-8801-0649, Betz, Christian, Neuhaus, Christine, Altmueller, Janine, Riedmayr, Lisa Maria, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2017). A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Khan, Hina N., Perlee, Desiree, Schoenmaker, Lieke, Van Der Meer, Anne-Jan, Franitza, Marek, Toliat, Mohammad Reza, Nuernberg, Peter, Zwinderman, Aeilko H., van Der Poll, Tom and Scicluna, Brendon P. (2019). Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia. J. Leukoc. Biol., 106 (5). S. 1153 - 1161. HOBOKEN: WILEY. ISSN 1938-3673

Kinfe, Thomas M. ORCID: 0000-0002-4888-543X, Asif, Maria, Chakravarthy, Krishnan V., Deer, Timothy R., Kramer, Jeffery M., Yearwood, Thomas L., Hurlemann, Rene ORCID: 0000-0003-2628-565X, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Motameny, Susanne, Wagle, Prerana, Nuernberg, Peter, Gravius, Sascha, Randau, Thomas ORCID: 0000-0002-5224-9639, Gravius, Nadine, Chaudhry, Shafqat R. and Muhammad, Sajjad (2019). Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling. J. Transl. Med., 17. LONDON: BMC. ISSN 1479-5876

Korenke, Georg-Christoph, Eggert, Marlene, Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Steinlein, Ortrud K. (2016). Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia, 57 (3). S. E60 - 4. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Kudin, Alexei P., Baron, Gregor, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Hampel, Kevin G., Elger, Christian E., Grote, Alexander, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Nuernberg, Peter, Schulz, Herbert, Ruppert, Ann-Kathrin, Sander, Thomas, Cheng, Qing, Arner, Elias S. J., Schomburg, Lutz, Seeher, Sandra, Fradejas-Villar, Noelia, Schweizer, Ulrich ORCID: 0000-0003-1380-4780 and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2017). Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic. Biol. Med., 106. S. 270 - 278. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1873-4596

Laghmani, Kamel ORCID: 0000-0002-2167-5766, Beck, Bodo B., Yang, Sung-Sen, Seaayfan, Elie ORCID: 0000-0003-4839-9834, Wenzel, Andrea, Reusch, Bjorn, Vitzthum, Helga, Priem, Dario ORCID: 0000-0002-2527-1101, Demaretz, Sylvie, Bergmann, Klasien, Duin, Leonie K., Goebel, Heike, Mache, Christoph, Thiele, Holger, Bartram, Malte P., Dombret, Carlos, Altmueller, Janine, Nuernberg, Peter, Benzing, Thomas, Levtchenko, Elena, Seyberth, Hannsjoerg W., Klaus, Guenter, Yigit, Goekhan, Lin, Shih-Hua, Timmer, Albert, de Koning, Tom J., Scherjon, Sicco A., Schlingmann, Karl P., Bertrand, Mathieu J. M., Rinschen, Markus M., de Backer, Olivier, Konrad, Martin and Koemhoff, Martin (2016). Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N. Engl. J. Med., 374 (19). S. 1853 - 1864. WALTHAM: MASSACHUSETTS MEDICAL SOC. ISSN 1533-4406

Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Moller, Rikke S., Krause, Roland, Nuernberg, Peter, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno and Daly, Mark J. (2020). Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Kamrath, Clemens, Schaenzer, Anne, Sander, Thomas, Hahn, Andreas and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One, 11 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Reinthaler, Eva M., Dejanovici, Borislav, May, Patrick ORCID: 0000-0001-8698-3770, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Gunter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico ORCID: 0000-0001-9744-5222, Hahn, Andreas, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Krause, Roland ORCID: 0000-0001-9938-7126, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Lemke, Johannes R., Nuernberg, Peter, Sander, Thomas, Lerche, Holger and Neubauer, Bernd A. (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One, 11 (3). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lang-Roth, Ruth, Fischer-Krall, Eva, Kornblum, Cornelia, Nuernberg, Gudrun, Meschede, Dieter, Goebel, Ingrid, Nuernberg, Peter, Beutner, Dirk, Kubisch, Christian ORCID: 0000-0003-4220-0978, Walger, Martin and Volk, Alexander E. (2017). AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. Audiol. Neuro-Otol., 22 (1). S. 30 - 41. BASEL: KARGER. ISSN 1421-9700

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

Lessel, Davor ORCID: 0000-0003-4496-244X, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szollos, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nuernberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W. and Gordon, Leslie B. (2018). Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum. Genet., 137 (11-12). S. 921 - 940. NEW YORK: SPRINGER. ISSN 1432-1203

Lessel, Davor ORCID: 0000-0003-4496-244X, Wu, Danyi, Trujillo, Carlos, Ramezani, Thomas ORCID: 0000-0003-4681-7844, Lessel, Ivana, Alwasiyah, Mohammad K., Saha, Bidisha, Hisama, Fuki M. ORCID: 0000-0001-7772-7855, Rading, Katrin, Goebel, Ingrid, Schuetz, Petra, Speit, Guenter, Hoegel, Josef, Thiele, Holger, Nuernberg, Gudrun, Nuernberg, Peter, Hammerschmidt, Matthias, Zhu, Yan, Tong, David R., Katz, Chen, Martin, George M., Oshima, Junko, Prives, Carol and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2017). Dysfunction of the MDM2/p53 axis is linked to premature aging. J. Clin. Invest., 127 (10). S. 3598 - 3609. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Lessel, Ivana, Chen, Mei-Jan, Luettgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger ORCID: 0000-0002-0169-998X, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nuernberg, Peter, Korf, Bruce R., Kubisch, Christian and Lessel, Davor ORCID: 0000-0003-4496-244X (2020). Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum. Genet., 139 (4). S. 483 - 499. NEW YORK: SPRINGER. ISSN 1432-1203

Li, Man ORCID: 0000-0002-3839-0281, Li, Yong ORCID: 0000-0003-2651-8791, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander ORCID: 0000-0002-8309-094X, Huffman, Jennifer E., Tromp, Gerard ORCID: 0000-0002-7761-0806, Fuchsberger, Christian, Gorski, Mathias, Lyytikainen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Boeger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Comelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo ORCID: 0000-0002-0859-0856, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpelainen, Tuomas ORCID: 0000-0002-8349-3028, Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang ORCID: 0000-0003-0650-1351, Lohman, Kurt, Lu, Yingchang, Maegi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta ORCID: 0000-0003-2152-2353, Ruderfer, Douglas, Salvi, Erika ORCID: 0000-0002-2724-2291, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer ORCID: 0000-0002-7031-0085, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele ORCID: 0000-0003-2168-8425, Brandslund, Ivan ORCID: 0000-0002-4203-5442, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans ORCID: 0000-0001-6052-6061, Esko, Tonu, Franco, Oscar H., Fulop, Tibor ORCID: 0000-0002-3346-7040, Gerhard, Glenn S., Gluemer, Charlotte, Gottesman, Omri, Grarup, Niels ORCID: 0000-0001-5526-1070, Gudnason, Vilmundur ORCID: 0000-0001-5696-0084, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jorgensen, Torben ORCID: 0000-0001-9453-2830, Jorgensen, Marit E., Kaehoenen, Mika, Kardia, Sharon L. R., Koenig, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer ORCID: 0000-0003-4270-018X, Launer, Lenore J., Lauritzen, Torsten, Lehtimaki, Terho, Levy, Daniel ORCID: 0000-0003-1843-8724, Linksted, Pamela, Linneberg, Allan ORCID: 0000-0002-0994-0184, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nuernberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf ORCID: 0000-0002-3321-3972, Peters, Annette ORCID: 0000-0001-6645-0985, Peters, Ulrike, Polasek, Ozren ORCID: 0000-0002-5765-1862, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando ORCID: 0000-0001-9435-9441, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela ORCID: 0000-0001-9545-6032, Turner, Stephen T., Uitterlinden, Andre G., Ulivi, Sheila, Velayutham, Dinesh ORCID: 0000-0002-9425-7266, Voelker, Uwe, Volzke, Henry, Waldenberger, Melanie ORCID: 0000-0003-0583-5093, Wang, Jie Jin ORCID: 0000-0001-9491-4898, Weir, David R., Witte, Daniel ORCID: 0000-0002-0769-2922, Kuivaniemi, Helena ORCID: 0000-0001-5753-8766, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Koettgen, Anna and Chu, Audrey Y. (2017). SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J. Am. Soc. Nephrol., 28 (3). S. 981 - 995. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Li, Melody, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Phillips, A. Marie, Petrovski, Slave, Hildebrand, Michael S., Burgess, Rosemary, Mount, Therese, Zara, Federico ORCID: 0000-0001-9744-5222, Striano, Pasquale ORCID: 0000-0002-6065-1476, Schubert, Julian, Thiele, Holger, Nuernberg, Peter, Wong, Michael, Weisenberg, Judith L., Thio, Liu Lin ORCID: 0000-0002-9779-7903, Lerche, Holger, Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven ORCID: 0000-0002-4960-6375 and Reid, Christopher A. (2018). Gain-of-function HCN2 variants in genetic epilepsy. Hum. Mutat., 39 (2). S. 202 - 210. HOBOKEN: WILEY. ISSN 1098-1004

Liao, David S., Grossi, Federico, V, El Mehdi, Delphine, Gerber, Monica R., Brown, David M., Heier, Jeffrey S., Wykoff, Charles C., Singerman, Lawrence J., Abraham, Prema, Grassmann, Felix ORCID: 0000-0003-1390-7528, Nuernberg, Peter, Weber, Bernhard H. F., Deschatelets, Pascal, Kim, Robert Y., Chung, Carol Y., Ribeiro, Ramiro M., Hamdani, Mohamed, Rosenfeld, Philip J., Boyer, David S., Slakter, Jason S. and Francois, Cedric G. (2020). Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration A Randomized Phase 2 Trial. Ophthalmology, 127 (2). S. 186 - 196. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1549-4713

Linnekamp, Janneke F., van Hooff, Sander R., Prasetyanti, Pramudita R., Kandimalla, Raju ORCID: 0000-0002-0342-5229, Buikhuisen, Joyce Y., Fessler, Evelyn, Ramesh, Prashanthi, Lee, Kelly A. S. T., Bochove, Grehor G. W., de Jong, Johan H., Cameron, Kate, van Leersum, Ronald, Rodermond, Hans M., Franitza, Marek, Nuernberg, Peter, Mangiapane, Laura R., Wang, Xin, Clevers, Hans, Vermeulen, Louis, Stassi, Giorgio and Medema, Jan Paul (2018). Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models. Cell Death Differ., 25 (3). S. 616 - 634. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5403

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

Maaser, Anna, Forstner, Andreas J., Strohmaier, Jana, Hecker, Julian, Ludwig, Kerstin U., Sivalingam, Sugirthan, Streit, Fabian, Degenhardt, Franziska, Witt, Stephanie H., Reinbold, Celine S., Koller, Anna C., Raff, Ruth, Heilmann-Heimbach, Stefanie, Fischer, Sascha B., Herms, Stefan ORCID: 0000-0002-2786-8200, Hoffmann, Per, Thiele, Holger, Nuernberg, Peter, Fier, Heide Loehlein, Orozco-Diaz, Guillermo, Carmenate-Naranjo, Deinys, Proenza-Barzaga, Niurka, Auburger, Georg W. J., Andlauer, Till F. M., Cichon, Sven, Marcheco-Teruel, Beatriz, Mors, Ole, Rietschel, Marcella and Noethen, Markus M. (2018). Exome sequencing in large, multiplex bipolar disorder families from Cuba. PLoS One, 13 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Macheleidt, Iris F., Dalvi, Priya S., Lim, So-Young, Meemboor, Sonja, Meder, Lydia ORCID: 0000-0002-9547-5812, Kaesgen, Olivia, Mueller, Marion, Kleemann, Karolin, Wang, Lingyu, Nuernberg, Peter, Ruesseler, Vanessa, Schaefer, Stephan C., Mahabir, Esther, Buettner, Reinhard and Odenthal, Margarete (2018). Preclinical studies reveal that LSD1 inhibition results in tumor growth arrest in lung adenocarcinoma independently of driver mutations. Mol. Oncol., 12 (11). S. 1965 - 1980. HOBOKEN: WILEY. ISSN 1878-0261

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

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

Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Gossmann, Yasmina, Helwing, Barbara, Niestroj, Lisa-Marie, Toliat, Mohammad Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael (2017). Distinct Human Genetic Variation in Iran. Hum. Hered., 83 (5). S. 241 - 242. BASEL: KARGER. ISSN 1423-0062

Mehrjoo, Zohreh ORCID: 0000-0003-3296-6283, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara ORCID: 0000-0001-9226-1053, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael (2019). Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet., 15 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S., Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W. ORCID: 0000-0002-5456-7761, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmueller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A., Stirnberg, Ruediger, Sturm, Marc ORCID: 0000-0002-6552-8362, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan ORCID: 0000-0002-2786-8200, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Bruestle, Oliver, Klopstock, Thomas, Mathews, Katherine D., Shy, Michael E., de Jonghe, Peter, Chinnery, Patrick F., Horvath, Rita ORCID: 0000-0002-9841-170X, Kohlhase, Juergen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schoels, Ludger, Nuernberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo ORCID: 0000-0003-4991-763X and Schuele, Rebecca (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain, 140. S. 1561 - 1579. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Hoehne, Wolfgang, Noegel, Angelika Anna, Al-Owain, Mohammed, Hoertnagel, Konstanze, Stoebe, Petra, Baig, Shahid Mahmood, Nuernberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2017). Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann. Neurol., 82 (4). S. 562 - 578. HOBOKEN: WILEY. ISSN 1531-8249

Moosa, Shahida ORCID: 0000-0002-4463-3067, Altmueller, Janine, Lyngbye, Troels, Christensen, Rikke, Li, Yun, Nuernberg, Peter, Yigit, Goekhan, Vogel, Ida ORCID: 0000-0002-1125-0393 and Wollnik, Bernd (2017). Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. Mol. Genet. Genom. Med., 5 (5). S. 580 - 585. HOBOKEN: WILEY. ISSN 2324-9269

Moosa, Shahida ORCID: 0000-0002-4463-3067, Boehrer-Rabel, Helena, Altmueller, Janine, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Nuernberg, Peter, Li, Yun, Yigit, Goekhan and Wollnik, Bernd (2017). Smith-Kingsmore Syndrome: A Third Family with the MTOR Mutation C.5395G > A p.(Glu1799Lys) and Evidence for Paternal Gonadal Mosaicism. Am. J. Med. Genet. A, 173 (1). S. 264 - 268. HOBOKEN: WILEY. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Fano, Virginia, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Nishimura, Gen and Wollnik, Bernd (2016). A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival. Am. J. Med. Genet. A, 170 (9). S. 2436 - 2440. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Cho, Tae-Joon ORCID: 0000-0001-8514-377X, Kim, Ok-Hwa, Nishimura, Gen, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393 (2017). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am. J. Med. Genet. A, 173 (4). S. 1102 - 1109. HOBOKEN: WILEY. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Loeys, Bart, Altmueller, Janine, Mortier, Geert, Nuernberg, Peter, Li, Yun, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393 (2017). Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. Clin. Genet., 92 (3). S. 342 - 344. HOBOKEN: WILEY. ISSN 1399-0004

Moosa, Shahida ORCID: 0000-0002-4463-3067, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Fano, Virginia and Wollnik, Bernd (2016). Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum. Am. J. Med. Genet. A, 170 (5). S. 1295 - 1302. HOBOKEN: WILEY. ISSN 1552-4833

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

Neidhardt, Guido, Becker, Alexandra, Hauke, Jan, Horvath, Judit, Markov, Nadja Bogdanova, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Hellebrand, Heide, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Meindl, Alfons, Rhiem, Kerstin, Bluemcke, Britta, Wappenschmidt, Barbara, Schmutzler, Rita K. and Hahnen, Eric (2017). The RAD51C exonic splice-site mutations c.404G > C and c.404G > T are associated with familial breast and ovarian cancer. Eur. J. Cancer Prev., 26 (2). S. 165 - 170. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1473-5709

Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Gross, Eva, Gehrig, Andrea, Mueller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Franke, Andre ORCID: 0000-0003-1530-5811, Lieb, Wolfgang, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Klaschik, Kristina, Ernst, Corinna, Ditsch, Nina, Jessen, Frank, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2017). Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol., 3 (9). S. 1245 - 1249. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

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

Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Franke, Andre ORCID: 0000-0003-1530-5811, Nuernberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic (2017). A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am. J. Hum. Genet., 101 (3). S. 417 - 428. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Niestroj, Lisa-Marie, Du, Juanjiangmeng, Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Palotie, Aarno, Daly, Mark J., Nuernberg, Peter, Bluemcke, Ingmar and Lal, Dennis (2018). Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia, 59 (11). S. 2145 - 2153. HOBOKEN: WILEY. ISSN 1528-1167

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

Niestroj, Lisa-Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Howrigan, Daniel P., Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Nuernberg, Peter, Stevelink, Remi, Daly, Mark J., Palotie, Aarno and Lal, Dennis (2020). Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain, 143. S. 2106 - 2119. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske ORCID: 0000-0002-7146-617X, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale ORCID: 0000-0002-6065-1476, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmuller, Janine, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Becker, Felicitas, Balling, Rudi ORCID: 0000-0003-2902-5650, Biskup, Saskia, Haas, Stefan A., Nuernberg, Peter, van Gassen, Koen L. I., Lerche, Holger, Zara, Federico ORCID: 0000-0001-9744-5222, Maljevic, Snezana ORCID: 0000-0003-1876-5872 and Leshinsky-Silver, Esther (2017). Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain, 140. S. 2879 - 2895. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Ortiz-Cuaran, Sandra, Scheffler, Matthias ORCID: 0000-0002-9031-1368, Plenker, Dennis, Dahmen, Ilona, Scheel, Andreas H., Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Meder, Lydia ORCID: 0000-0002-9547-5812, Lovly, Christine M., Persigehl, Thorsten, Merkelbach-Bruse, Sabine, Bos, Marc, Michels, Sebastian, Fischer, Rieke, Albus, Kerstin, Koenig, Katharina, Schildhaus, Hans-Ulrich, Fassunke, Jana, Ihle, Michaela A., PasternackO, Helen, Heydt, Carina, Becker, Christian, Altmueller, Janine, Ji, Hongbin, Mueller, Christian, Florin, Alexandra, Heuckmann, Johannes M., Nuernberg, Peter, Ansen, Sascha, Heukamp, Lukas C., Berg, Johannes, Pao, William, Peifer, Martin ORCID: 0000-0002-5243-5503, Buettner, Reinhard, Wolfe, Juergen, Thomas, Roman K. and Sos, Martin L. (2016). Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors. Clin. Cancer Res., 22 (19). S. 4837 - 4848. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1557-3265

Owczarek-Lipska, Marta, Reiff, Charlotte, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain and Neidhardt, John (2016). Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin. Invest. Ophthalmol. Vis. Sci., 57 (12). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

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

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

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Bustos, Bernabe, I, Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shoenfels, Witigo, Schafmayer, Clemens, Ahnert, Peter ORCID: 0000-0002-1771-0856, Voelzke, Henry, Voelker, Uwe, Homuth, Georg, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Puschel, Klaus, Gutierrez, Rodrigo A., Hampe, Jochen ORCID: 0000-0002-2421-6127, Nuernberg, Peter, Miquel, Juan Francisco and De Ferrari, Giancarlo, V (2020). Copy number variants in lipid metabolism genes are associated with gallstones disease in men. Eur. J. Hum. Genet., 28 (2). S. 264 - 274. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Gramm, Marie, Nuernberg, Peter, May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2019). Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. Nucleic Acids Res., 47 (W1). S. W99 - 7. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Helbig, Ingo ORCID: 0000-0001-8486-0558, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Ganna, Andrea ORCID: 0000-0002-8147-240X, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R., Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Howrigan, Daniel P., Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V., Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Neubauer, Bern A., Becker, Albert J., Rosenow, Felix, Perucca, Emilio, Zara, Federico ORCID: 0000-0001-9744-5222, Weber, Yvonne G. and Lal, Dennis (2017). Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. J. Med. Genet., 54 (9). S. 598 - 607. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, May, Patrick ORCID: 0000-0001-8698-3770, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O., Castrillon, Jessica A., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Nuernberg, Peter, Palotie, Aarno, Daly, Mark and Lal, Dennis (2020). Identification of pathogenic variant enriched regions across genes and gene families. Genome Res., 30 (1). S. 62 - 72. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Ravoet, Marie, De Ferrari, Giancarlo V., Nuernberg, Peter, Isidor, Bertrand, Neubauer, Bernd A. and Lal, Dennis (2018). Duplications at 19q13.33 in patients with neurodevelopmental disorders. Neurol.-Genet., 4 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

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

Perlee, Desiree, de Vos, Alex F., Scicluna, Brendon P., Mancheno, Pablo, De la Rosa, Olga, Dalemans, Wilfried, Nuernberg, Peter, Lombardo, Eleuterio and Van der Poll, Tom (2019). Human Adipose-Derived Mesenchymal Stem Cells Modify Lung Immunity and Improve Antibacterial Defense in Pneumosepsis Caused by Klebsiella pneumoniae. Stem Cells Transl. Med., 8 (8). S. 785 - 797. HOBOKEN: WILEY. ISSN 2157-6580

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

Prasetyanti, Pramudita R., van Hooff, Ander R., van Herwaarden, Tessa, de Vries, Nathalie, Kalloe, Kieshen, Rodermond, Hans, van Leersum, Ronald, de Jong, Joan H., Franitza, Marek, Nuernberg, Peter, Todaro, Matilde, Stassi, Giorgio and Medema, Jan Paul (2019). Capturing colorectal cancer inter-tumor heterogeneity in patient-derived xenograft (PDX) models. Int. J. Cancer, 144 (2). S. 366 - 372. HOBOKEN: WILEY. ISSN 1097-0215

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

Rahner, Nils, Nuernberg, Gudrun, Finis, David, Nuernberg, Peter and Royer-Pokora, Brigitte (2016). A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Ophthalmic Genet., 37 (3). S. 294 - 301. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Ralser, Damian J., Basmanav, F. Buket Ue., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michelle, Pulimood, Susanne A., Altmueller, Janine, Nuernberg, Peter, Lacombe, Didier ORCID: 0000-0002-8956-2207, Hillen, Uwe, Wenzel, Joerg, Frank, Jorge, Odermatt, Benjamin and Betz, Regina C. (2017). Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J. Clin. Invest., 127 (4). S. 1485 - 1491. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, ul Haque, Saif, Mir, Asif, Anjum, Iram ORCID: 0000-0002-9015-3179, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2020). An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Mol. Genet. Genom. Med., 8 (9). HOBOKEN: WILEY. ISSN 2324-9269

Rasool, Sajida, Irshad, Saba, Saba, Neelam, Fiaz, Mehak, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Hussain, Muhammad Wajid and Nuernberg, Peter (2020). A Novel Homozygous Nonsense Variant in BICD2 Underlies Hereditary Spastic Paraplegia Complex Type. Pak. J. Zool., 52 (2). S. 727 - 733. LAHORE: ZOOLOGICAL SOC PAKISTAN. ISSN 0030-9923

Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain ORCID: 0000-0001-6729-3029 and Neidhardt, John (2016). The mutation p. E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian ORCID: 0000-0003-1693-9699, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am. J. Hum. Genet., 100 (2). S. 297 - 316. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

Scicluna, Brendon P., Uhel, Fabrice, van Vught, Lonneke A., Wiewel, Maryse A., Hoogendijk, Arie J., Baessman, Ingelore, Franitza, Marek, Nuernberg, Peter, Horn, Janneke, Cremer, Olaf L., Bonten, Marc J., Schultz, Marcus J. and van der Poll, Tom (2020). The leukocyte non-coding RNA landscape in critically ill patients with sepsis. eLife, 9. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

Scicluna, Brendon P., Wiewel, Maryse A., van Vught, Lonneke A., Hoogendijk, Arie J., Klarenbeek, Augustijn M., Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Horn, Janneke, Bonten, Marc J., Schultz, Marcus J., Cremer, Olaf L. and van der Poll, Tom (2018). Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis upon ICU Admission. Am. J. Respir. Crit. Care Med., 197 (8). S. 1070 - 1074. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970

Seifert, Wenke, Posor, York, Schu, Peter, Stenbeck, Gudrun, Mundlos, Stefan, Klaassen, Sabine, Nuernberg, Peter, Haucke, Volker, Kornak, Uwe and Kuehnisch, Jirko (2016). The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Hum. Mol. Genet., 25 (17). S. 3836 - 3849. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Spielmann, Malte ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G. ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram (2016). Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res., 26 (2). S. 183 - 192. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Sprute, Rosanne, Jergas, Hannah, Oelmez, Akguen, Alawbathani, Salem, Karasoy, Hatice, Dafsari, Hormos Salimi, Becker, Kerstin, Daimagueeler, Huelya-Sevcan, Nuernberg, Peter, Muntoni, Francesco, Topaloglu, Haluk, Uyanik, Goekhan and Cirak, Sebahattin . Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. Am. J. Med. Genet. A. HOBOKEN: WILEY. ISSN 1552-4833

Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah ORCID: 0000-0001-6227-3950, Mueller, Rolf, Altmueller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf, Nuernberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Noegel, Angelika A. (2017). CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol. Genet. Genomics, 292 (2). S. 365 - 384. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1617-4623

Szczepanski, Sandra, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Sur, Ilknur, Altmueller, Janine, Thiele, Holger, Abdullah, Uzma, Waseem, Syeda Seema, Moawia, Abubakar, Nuernberg, Gudrun, Noegel, Angelika Anna, Baig, Shahid Mahmood and Nuernberg, Peter (2016). A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum. Genet., 135 (2). S. 157 - 171. NEW YORK: SPRINGER. ISSN 1432-1203

Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nuernberg, Peter, Neidhardt, John and Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Usluer, Sunay, Kayserili, Melek Asli, Eken, Asli Gundogdu, Yis, Uluc, Leu, Costin ORCID: 0000-0003-0598-3301, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Caglayan, S. Hande (2017). Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). Eur. J. Paediatr. Neurol., 21 (5). S. 773 - 783. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Vogt, Johannes ORCID: 0000-0003-2439-8247, Yang, Jenq-Wei, Mobascher, Arian, Cheng, Jin, Li, Yunbo, Liu, Xingfeng, Baumgart, Jan ORCID: 0000-0003-1996-4267, Thalman, Carine, Kirischuk, Sergei, Unichenko, Petr, Horta, Guilherme, Radyushkin, Konstantin, Stroh, Albrecht, Richers, Sebastian, Sahragard, Nassim, Distler, Ute ORCID: 0000-0002-8031-6384, Tenzer, Stefan ORCID: 0000-0003-3034-0017, Qiao, Lianyong, Lieb, Klaus, Tuescher, Oliver, Binder, Harald ORCID: 0000-0002-5666-8662, Ferreiros, Nerea, Tegeder, Irmgard ORCID: 0000-0001-7524-8025, Morris, Andrew J., Gropa, Sergiu, Nuernberg, Peter, Toliat, Mohammad R., Winterer, Georg, Luhmann, Heiko J. ORCID: 0000-0002-7934-8661, Huai, Jisen and Nitsch, Robert (2016). Molecular cause and functional impact of altered synaptic lipid signaling due to a prg-1 gene SNP. EMBO Mol. Med., 8 (1). S. 25 - 39. HOBOKEN: WILEY. ISSN 1757-4684

Volmering, Elisa, Niehusmann, Pitt, Peeva, Viktoriya, Grote, Alexander, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Altmueller, Janine, Nuernberg, Peter, Becker, Albert J., Schoch, Susanne, Elger, Christian E. and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy. Acta Neuropathol., 132 (2). S. 277 - 289. NEW YORK: SPRINGER. ISSN 1432-0533

Wagener, Rabea, Lopez, Cristina ORCID: 0000-0001-6644-1659, 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, Nuernberg, Peter, Oschlies, Ilske, Oscier, David, Schlegelberger, Brigitte, Stilgenbauer, Stephan, Woessmann, Wilhelm, Schlesner, Matthias ORCID: 0000-0002-5896-4086, Burkhardt, Birgit, Klapper, Wolfram, Jaffe, Elaine S., Kueppers, Ralf and Siebert, Reiner (2018). IG-MYC plus neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. Blood, 132 (21). S. 2280 - 2286. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

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

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

Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Gross, Eva, Bluemcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Mueller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmueller, Janine, Neidhardt, Guido, Nuernberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad ORCID: 0000-0001-6127-6308, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian ORCID: 0000-0003-4220-0978, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Arnold, Norbert ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018). BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res., 20. LONDON: BMC. ISSN 1465-5411

Weissbach, Susann, Reinert, Marie-Christine, Altmueller, Janine, Kraetzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nuernberg, Peter and Gaertner, Jutta (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med. Genet. A, 173 (10). S. 2803 - 2808. HOBOKEN: WILEY. ISSN 1552-4833

Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt ORCID: 0000-0002-3679-1081, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo ORCID: 0000-0001-9599-9854, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Reis, Andre ORCID: 0000-0002-6301-6363, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno and Beck, Bodo B. (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Widdig, Anja, Kessler, Matthew J., Bercovitch, Fred B., Berard, John D., Duggleby, Christine, Nuernberg, Peter, Rawlins, Richard G., Sauermann, Ulrike, Wang, Qian, Krawczak, Michael ORCID: 0000-0003-2603-1502 and Schmidtke, Joerg (2016). Genetic Studies on the Cayo Santiago Rhesus Macaques: A Review of 40 Years Of Research. Am. J. Primatol., 78 (1). S. 44 - 63. HOBOKEN: WILEY. ISSN 1098-2345

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

Yigit, Goekhan, Wieczorek, Dagmar, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Moeller-Hartmann, Claudia, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter and Wollnik, Bernd (2016). A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation. Am. J. Med. Genet. A, 170 (3). S. 728 - 734. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Zaki, Maha ORCID: 0000-0001-7840-0002, Thoenes, Michaela, Kawalia, Amit, Nuernberg, Peter, Kaiser, Rolf, Heller, Raoul and Bolz, Hanno J. (2017). Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation. Front. Genet., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004

Zhang, Rong, Thiele, Holger, Bartmann, Peter, Hilger, Alina C., Berg, Christoph, Herberg, Ulrike, Klingmueller, Dietrich, Nuernberg, Peter, Ludwig, Michael and Reutter, Heiko (2016). Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res. Hum. Genet., 19 (1). S. 60 - 66. NEW YORK: CAMBRIDGE UNIV PRESS. ISSN 1839-2628

Zirkel, Anne, Nikolic, Milos ORCID: 0000-0003-0029-7601, Sofiadis, Konstantinos, Mallm, Jan-Philipp, Brackley, Chris A., Gothe, Henrike, Drechsel, Oliver, Becker, Christian, Altmueller, Janine, Josipovic, Natasa, Georgomanolis, Theodore, Brant, Lilija, Franzen, Julia, Koker, Mirjam, Gusmao, Eduardo G., Costa, Ivan G. ORCID: 0000-0003-2890-8697, Ullrich, Roland T., Wagner, Wolfgang ORCID: 0000-0002-1971-3217, Roukos, Vassilis ORCID: 0000-0002-5065-3937, Nuernberg, Peter, Marenduzzo, Davide ORCID: 0000-0003-3974-4915, Rippe, Karsten ORCID: 0000-0001-9951-9395 and Papantonis, Argyris ORCID: 0000-0001-7551-1073 (2018). HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types. Mol. Cell, 70 (4). S. 730 - 751. CAMBRIDGE: CELL PRESS. ISSN 1097-4164

van Doormaal, Perry T. C., Ticozzi, Nicola ORCID: 0000-0001-5963-7426, Weishaupt, Jochen H., Kenna, Kevin, Diekstra, Frank P., Verde, Federico ORCID: 0000-0002-3977-6995, Andersen, Peter M., Dekker, Annelot M., Tiloca, Cinzia, Marroquin, Nicolai, Overste, Daniel J., Pensato, Viviana ORCID: 0000-0001-9798-2669, Nuernberg, Peter, Pulit, Sara L., Schellevis, Raymond D., Calini, Daniela, Altmueller, Janine, Francioli, Laurent C., Muller, Bernard, Castellotti, Barbara, Motameny, Susanne, Ratti, Antonia, Wolf, Joachim, Gellera, Cinzia, Ludolph, Albert C., van den Berg, Leonard H., Kubisch, Christian ORCID: 0000-0003-4220-0978, Landers, John E., Veldink, Jan H., Silani, Vincenzo and Volk, Alexander E. (2017). The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum. Mutat., 38 (11). S. 1534 - 1542. HOBOKEN: WILEY. ISSN 1098-1004

van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Hoogendijk, Arie J., Klouwenberg, Peter M. C. Klein, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Cremer, Olaf L., Horn, Janneke, Schultz, Marcus J., Bonten, Marc M. J. and van der Poll, Tom (2016). Comparative Analysis of the Host Response to Community-acquired and Hospital-acquired Pneumonia in Critically Ill Patients. Am. J. Respir. Crit. Care Med., 194 (11). S. 1366 - 1375. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970

van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Hoogendijk, Arie J., Klouwenberg, Peter M. C. Klein, Ong, David S. Y., Cremer, Olaf L., Horn, Janneke, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Bonten, Marc M. J., Schultz, Marcus J. and van der Poll, Tom (2017). Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients. Crit. Care Med., 45 (11). S. 1854 - 1863. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1530-0293

This list was generated on Mon Mar 8 03:37:08 2021 CET.