Universität zu Köln

Journal Article

Abdallah, Ali T., Fischer, Matthias, Nuernberg, Peter, Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Frommolt, Peter ORCID: 0000-0002-1966-8014 (2015). CoNCoS: Copy number estimation in cancer with controlled support. J. Bioinform. Comput. Biol., 13 (5). LONDON: IMPERIAL COLLEGE PRESS. ISSN 1757-6334

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

Acevedo-Garcia, Johanna, Collins, Nicholas C., Ahmadinejad, Nahal, Ma, Lu ORCID: 0000-0001-5271-0686, Houben, Andreas ORCID: 0000-0003-3419-239X, Bednarek, Pawel ORCID: 0000-0002-3064-7775, Benjdia, Mariam ORCID: 0000-0003-1554-5452, Freialdenhoven, Andreas, Altmueller, Janine, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Schulze-Lefert, Paul and Panstruga, Ralph ORCID: 0000-0002-3756-8957 (2013). Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.). Theor. Appl. Genet., 126 (12). S. 2969 - 2983. NEW YORK: SPRINGER. ISSN 1432-2242

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

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

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

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, Budde, Birgit S. and Nuernberg, Peter (2014). Enrichment of target sequences for next-generation sequencing applications in research and diagnostics. Biol. Chem., 395 (2). S. 231 - 238. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1437-4315

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

Andres, Fernando ORCID: 0000-0003-4736-8876, Romera-Branchat, Maida ORCID: 0000-0002-6685-5066, Martinez-Gallegos, Rafael, Patel, Vipul, Schneeberger, Korbinian, Jang, Seonghoe, Altmueller, Janine, Nuernberg, Peter and Coupland, George ORCID: 0000-0001-6988-4172 (2015). Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE. Plant Physiol., 169 (3). S. 2187 - 2200. ROCKVILLE: AMER SOC PLANT BIOLOGISTS. ISSN 1532-2548

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

Balabanova, Yanina, Nikolayevskyy, Vladyslav ORCID: 0000-0002-9502-0332, Ignatyeva, Olga ORCID: 0000-0003-2020-4206, Kontsevaya, Irina ORCID: 0000-0003-3421-7550, Mironova, Svetlana, Kovalyov, Alexander, Kritsky, Andrey, Rodionova, Yulia, Fedorin, Ivan, Casali, Nicola, Hooper, Richard ORCID: 0000-0002-1063-0917, Horstmann, Rolf D., Nejentsev, Sergey, Hoffner, Sven, Nuernberg, Peter and Drobniewski, Francis (2015). Beijing clades of Mycobacterium tuberculosis are associated with differential survival in HIV-negative Russian patients. Infect. Genet. Evol., 36. S. 517 - 524. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1567-7257

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

Basel-Vanagaite, Lina, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Ramirez-Solis, Ramiro ORCID: 0000-0003-4182-173X, Segref, Alexandra ORCID: 0000-0001-8095-4469, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miro, Xavier, White, Jacqueline K., Desir, Julie, Abramowicz, Marc ORCID: 0000-0003-0623-8768, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward ORCID: 0000-0002-1799-9899, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine ORCID: 0000-0002-5391-3378, Ingham, Neil J., Altmueller, Janine, Nuernberg, Gudrun, Frommolt, Peter ORCID: 0000-0002-1966-8014, Abdelhak, Sonia ORCID: 0000-0001-8466-5525, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nuernberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten ORCID: 0000-0002-4734-9352, Kubisch, Christian ORCID: 0000-0003-4220-0978, Adams, David J. and Borck, Guntram (2012). Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome. Am. J. Hum. Genet., 91 (6). S. 998 - 1011. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miguel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta ORCID: 0000-0003-0652-2988, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nuernberg, Peter, Gothelf, Doron, Kubisch, Christian ORCID: 0000-0003-4220-0978, Shohat, Mordechai, Macaya, Alfons and Borck, Guntram (2013). Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum. Am. J. Hum. Genet., 93 (3). S. 524 - 530. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Basmanav, F. Buket, Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter ORCID: 0000-0002-4571-8812, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette ORCID: 0000-0002-3004-0180, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C. (2014). Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. Am. J. Hum. Genet., 94 (1). S. 135 - 144. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J. (2014). Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Hum. Mutat., 35 (10). S. 1153 - 1163. HOBOKEN: WILEY. ISSN 1098-1004

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

Bendon, Charlotte L., Fenwick, Aimee L., Hurst, Jane A., Nuernberg, Gudrun, Nuernberg, Peter, Wall, Steven A., Wilkie, Andrew O. M. and Johnson, David (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med. Genet., 13. LONDON: BMC. ISSN 1471-2350

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

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

Bolz, Hanno Joern, Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Nuernberg, Peter, Karnati, Srikanth, Swan, Daniel, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Zaki, Maha (2015). PEX6 mutation causing deaf blindness with enamel dysplasia and microcephaly. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nuernberg, Gudrun, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Hofmann, Kay, Konen, Osnat, Nuernberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina (2012). elF2 gamma Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation. Mol. Cell, 48 (4). S. 641 - 647. CAMBRIDGE: CELL PRESS. ISSN 1097-2765

Borck, Guntram, de Vries, Liat, Wu, Hsin-Jung, Smirin-Yosef, Pola, Nuernberg, Gudrun, Lagovsky, Irina, Ishida, Luis Henrique, Thierry, Patrick, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Nuernberg, Peter, Foley, John, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina (2014). Homozygous truncating PTPRF mutation causes athelia. Hum. Genet., 133 (8). S. 1041 - 1048. NEW YORK: SPRINGER. ISSN 1432-1203

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

Breitenkamp, Alexandra F. S., Matthes, Jan ORCID: 0000-0003-2754-1555, Nass, Robert Daniel ORCID: 0000-0003-4446-8898, Sinzig, Judith ORCID: 0000-0002-3693-3318, Lehmkuhl, Gerd, Nuernberg, Peter and Herzig, Stefan (2014). Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function. PLoS One, 9 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Budde, Birgit S., Mizumoto, Shuji ORCID: 0000-0002-4641-1505, Kogawa, Ryo, Becker, Christian, Altmueller, Janine, Thiele, Holger, Rueschendorf, Franz, Toliat, Mohammad R., Kaleschke, Gerrit, Haemmerle, Johannes M., Hoaehne, Wolfgang, Sugahara, Kazuyuki, Nuernberg, Peter and Kennerknecht, Ingo (2015). Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum. Genet., 134 (7). S. 691 - 705. NEW YORK: SPRINGER. ISSN 1432-1203

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

Buyandelger, Byambajav, Mansfield, Catherine ORCID: 0000-0002-5063-5181, Kostin, Sawa, Choi, Onjee, Roberts, Angharad M., Ware, James S., Mazzarotto, Francesco ORCID: 0000-0002-6159-9980, Pesce, Francesco ORCID: 0000-0002-2882-4226, Buchan, Rachel, Isaacson, Rivka L., Vouffo, Josee, Gunkel, Sylvia, Knoll, Gudrun, McSweeney, Sara J., Wei, Heming, Perrot, Andreas ORCID: 0000-0002-8800-342X, Pfeiffer, Conny, Toliat, Mohammad Reza, Ilieva, Kristina, Krysztofinska, Ewelina, Lopez-Olaneta, Marina M., Gomez-Salinero, Jesus M., Schmidt, Albrecht, Ng, Keat-Eng, Teucher, Niels, Chen, Ju, Teichmann, Martin ORCID: 0000-0002-5257-0510, Eilers, Martin ORCID: 0000-0002-0376-6533, Haverkamp, Wilhelm, Regitz-Zagrosek, Vera, Hasenfuss, Gerd, Braun, Thomas ORCID: 0000-0002-6165-4804, Pennell, Dudley J., Gould, Ian, Barton, Paul J. R., Lara-Pezzi, Enrique ORCID: 0000-0002-2743-1033, Schaefer, Sebastian, Huebner, Norbert, Felkin, Leanne E., O'Regan, Declan P., Brand, Thomas, Milting, Hendrik, Nuernberg, Peter, Schneider, Michael D., Prasad, Sanjay, Petretto, Enrico and Knoll, Ralph (2015). ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure. Circ.-Cardiovasc. Genet., 8 (5). S. 643 - 653. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1942-3268

Castori, Marco ORCID: 0000-0002-6069-0993, Pascolini, Giulia ORCID: 0000-0002-2440-7441, Parisi, Valentina, Sana, Maria Elena, Novelli, Antonio ORCID: 0000-0002-9037-4297, Nuernberg, Peter, Iascone, Maria and Grammatico, Paola (2015). Microcephaly, Ectodermal Dysplasia, Multiple Skeletal Anomalies, and Distinctive Facial Appearance: Delineation of Cerebro-Dermato-Osseous-Dysplasia. Am. J. Med. Genet. A, 167 (4). S. 842 - 852. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Castori, Marco ORCID: 0000-0002-6069-0993, Pascolini, Giulia ORCID: 0000-0002-2440-7441, Parisi, Valentina, Sana, Maria Elena, Novelli, Antonio ORCID: 0000-0002-9037-4297, Nuernberg, Peter, Iascone, Maria and Grammatico, Paola (2015). Microcephaly, Ectodermal Dysplasia, Multiple Skeletal Anomalies, and Distinctive Facial Appearance: Delineation of Cerebro-Dermato-Osseous-Dysplasia. Am. J. Med. Genet. A, 167 (4). S. 842 - 852. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

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

Coelho, David ORCID: 0000-0001-7010-5789, Kim, Jaeseung C., Miousse, Isabelle R. ORCID: 0000-0001-6543-3219, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nuernberg, Peter, Thiele, Holger, Robenek, Horst, Hoehne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A., Majewski, Jacek, Rosenblatt, David S., Fowler, Brian, Rutsch, Frank and Baumgartner, Matthias R. (2012). Mutations in ABCD4 cause a new inborn error of vitamin B-12 metabolism. Nature Genet., 44 (10). S. 1152 - 1158. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1061-4036

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

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

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

Debrah, Alexander Yaw, Batsa, Linda, Albers, Anna, Mand, Sabine, Toliat, Mohammad Reza, Nuernberg, Peter, Adjei, Ohene, Hoerauf, Achim and Pfarr, Kenneth ORCID: 0000-0003-3096-2465 (2011). Transforming growth factor-beta 1 variant Leu10Pro is associated with both lack of microfilariae and differential microfilarial loads in the blood of persons infected with lymphatic filariasis. Hum. Immunol., 72 (11). S. 1143 - 1149. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1879-1166

Dejanovic, Boris Lav, Lal, Dennis, Catarino, Claudia B., Arjune, Sita, Belaidi, Abdel A., Trucks, Holger, Vollmar, Christian ORCID: 0000-0002-4630-7484, Surges, Rainer ORCID: 0000-0002-3177-8582, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Motameny, Susanne, Altmueller, Janine, Koehler, Anna, Neubauer, Bernd A., Nuernberg, Peter, Noachtar, Soheyl, Schwarz, Gunter and Sander, Thomas (2014). Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. Neurobiol. Dis., 67. S. 88 - 97. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1095-953X

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

Doss, Sarah, Lohmann, Katja, Seibler, Philip, Arns, Bjoern, Klopstock, Thomas, Zuehlke, Christine, Freimann, Karen, Winkler, Susen, Lohnau, Thora, Drungowski, Mario, Nuernberg, Peter, Wiegers, Karin, Lohmann, Ebba, Naz, Sadaf ORCID: 0000-0002-1912-0235, Kasten, Meike, Bohner, Georg ORCID: 0000-0002-1919-092X, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Endres, Matthias and Klein, Christine (2014). Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J. Neurol., 261 (1). S. 207 - 213. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1459

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

Dufour, William, Alawbathani, Salem, Jourdain, Anne-Sophie, Asif, Maria, Baujat, Genevieve, Becker, Christian, Budde, Birgit, Gallacher, Lyndon, Georgomanolis, Theodoros, Ghoumid, Jamal, Hoehne, Wolfgang, Lyonnet, Stanislas, Ba-Saddik, Iman Ali, Manouvrier-Hanu, Sylvie, Motameny, Susanne, Noegel, Angelika A., Pais, Lynn, Vanlerberghe, Clemence, Wagle, Prerana, White, Susan M., Willems, Marjolaine, Nuernberg, Peter, Escande, Fabienne, Petit, Florence and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2022). Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling. Genet. Med., 24 (8). S. 1708 - 1722. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

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

Ehmke, Nadja, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valerie, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmueller, Janine, Fischer-Zirnsak, Bjoern, Knaus, Alexej, Zhu, Na ORCID: 0000-0001-6460-3087, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte ORCID: 0000-0002-0583-4683, Horn, Denise, Komak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nuernberg, Peter, Siebert, Reiner, Manzke, Hermann and Mundlos, Stefan (2014). Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome. Am. J. Hum. Genet., 95 (6). S. 763 - 771. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

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

Elsayed, Solaf M., Heller, Raoul, Thoenes, Michaela, Zaki, Maha S., Swan, Daniel ORCID: 0000-0001-8978-8129, Elsobky, Ezzat, Zuehlke, Christine, Ebermann, Inga, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2014). Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur. J. Hum. Genet., 22 (2). S. 286 - 289. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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

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

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Peifer, Martin, George, Julie, De Reynies, Aurelien, Sun, Ruping, Altmueller, Janine, Nuernberg, Peter, Olivier, Magali ORCID: 0000-0002-8202-342X, Ardin, Maude, Blum, Yuna, Laffaire, Julien, Elarouci, Nabila, Petel, Fabien, Mckay, James, Byrnes, Graham, Nagy-Mignotte, Helene, Moro-Sibilot, Denis, Brambilla, Christian, Lantuejoul, Sylvie, Mcleer, Anne, Soltermann, Alex, Brustugun, Odd T., Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Lund-Iversen, Marius, Ansen, Sascha, Wright, Gavin, Russell, Prudence A., Solomon, Benjamin J., Roz, Luca ORCID: 0000-0001-5817-7149, Pastorino, Ugo, Petersen, Iver, Clement, Joachim H., Saenger, Joerg, Zander, Thomas, Buettner, Reinhard, Haas, Stefan, Brambilla, Elisabeth and Thomas, Roman K. (2015). Genomic Characterization of Large-Cell Neuroendocrine Lung Tumors. J. Thorac. Oncol., 10 (9). S. S185 - 1. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1556-1380

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Peifer, Martin ORCID: 0000-0002-5243-5503, Lu, Xin, Sun, Ruping, Ozretic, Luka, Seidel, Danila ORCID: 0000-0003-4388-3117, Zander, Thomas, Leenders, Frauke, George, Julie, Mueller, Christian, Dahmen, Ilona, Pinther, Berit, Bosco, Graziella, Konrad, Kathryn, Altmueller, Janine, Nuernberg, Peter, Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Bogus, Magdalena, Soltermann, Alex, Brustugun, Odd Terje, Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Lund-Iversen, Marius, Ansen, Sascha, Stoelben, Erich, Wright, Gavin M., Russell, Prudence, Wainer, Zoe, Solomon, Benjamin, Field, John K. ORCID: 0000-0003-3951-6365, Hyde, Russell, Davies, Michael P. A., Heukamp, Lukas C., Petersen, Iver, Perner, Sven, Lovly, Christine M., Cappuzzo, Federico, Travis, William D., Wolf, Juergen, Vingron, Martin, Brambilla, Elisabeth, Haas, Stefan A., Buettner, Reinhard and Thomas, Roman K. (2014). Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. Nat. Commun., 5. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Sun, Ruping, Menon, Roopika, George, Julie, Lorenz, Susanne, Meza-Zepeda, Leonardo A., Peifer, Martin ORCID: 0000-0002-5243-5503, Plenker, Dennis, Heuckmann, Johannes M., Leenders, Frauke, Zander, Thomas, Dahmen, Ilona, Koker, Mirjam, Schoettle, Jakob, Ullrich, Roland T., Altmueller, Janine, Becker, Christian, Nuernberg, Peter, Seidel, Henrik ORCID: 0000-0001-7804-5143, Boehm, Diana, Goeke, Friederike, Ansen, Sascha, Russell, Prudence A., Wright, Gavin M., Wainer, Zoe, Solomon, Benjamin, Petersen, Iver, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Saenger, Joerg, Brustugun, Odd-Terje, Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Lund-Iversen, Marius, Buettner, Reinhard, Wolf, Juergen, Brambilla, Elisabeth, Vingron, Martin, Perner, Sven, Haas, Stefan A. and Thomas, Roman K. (2015). Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data. Genome Biol., 16. LONDON: BIOMED CENTRAL LTD. ISSN 1474-760X

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

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

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

Gee, Heon Yung ORCID: 0000-0002-8741-6177, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Al Attrach, Ibrahim, Al Hassoun, Ibrahim, Ozturk, Savas ORCID: 0000-0002-0961-3810, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo ORCID: 0000-0002-1278-3650, Lewis, Richard A., Nuernberg, Gudrun, Nuernberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn ORCID: 0000-0002-1369-5740 and Hildebrandt, Friedhelm (2014). Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int., 85 (4). S. 880 - 888. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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

Geisel, Marie H., Hessler, Nicole, Coassin, Stefan, Moskau-Hartmann, Susanna, Nuernberg, Gudrun, Eisele, Lewin, Hennig, Frauke, Bauer, Marcus, Mahabadi, Amir-Abbas, Moebus, Susanne, Erbel, Raimund, Hoffmann, Barbara, Nuernberg, Peter, Klockgether, Thomas, Joeckel, Karl-Heinz, Scherag, Andre, Kronenberg, Florian and Ziegler, Andreas (2015). Replication effort for common variants associated with carotid intima media thickness within four independent samples. Genet. Epidemiol., 39 (7). S. 550 - 552. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-2272

George, Julie, Lim, Jing Shan, Jang, Se Jin, Cun, Yupeng ORCID: 0000-0002-4241-8099, Ozretic, Luka, Kong, Gu, Leenders, Frauke, Lu, Xin, Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Bosco, Graziella, Mueller, Christian, Dahmen, Ilona, Jahchan, Nadine S., Park, Kwon-Sik, Yang, Dian, Karnezis, Anthony N., Vaka, Dedeepya ORCID: 0000-0001-7951-5514, Torres, Angela, Wang, Maia Segura, Korbel, Jan O., Menon, Roopika, Chun, Sung-Min ORCID: 0000-0002-3357-1382, Kim, Deokhoon, Wilkerson, Matt, Hayes, Neil, Engelmann, David, Puetzer, Brigitte, Bos, Marc, Michels, Sebastian, Vlasic, Ignacija, Seidel, Danila ORCID: 0000-0003-4388-3117, Pinther, Berit, Schaub, Philipp, Becker, Christian, Altmueller, Janine, Yokota, Jun, Kohno, Takashi, Iwakawa, Reika, Tsuta, Koji, Noguchi, Masayuki, Muley, Thomas, Hoffmann, Hans, Schnabel, Philipp A., Petersen, Iver, Chen, Yuan, Soltermann, Alex, Tischler, Verena ORCID: 0000-0002-6673-8329, Choi, Chang-min, Kim, Yong-Hee, Massion, Pierre P., Zou, Yong, Jovanovic, Dragana, Kontic, Milica, Wright, Gavin M., Russell, Prudence A., Solomon, Benjamin, Koch, Ina, Lindner, Michael, Muscarella, Lucia A., la Torre, Annamaria ORCID: 0000-0003-4199-1077, Field, John K. ORCID: 0000-0003-3951-6365, Jakopovic, Marko, Knezevic, Jelena, Castanos-Velez, Esmeralda ORCID: 0000-0002-2670-1118, Roz, Luca ORCID: 0000-0001-5817-7149, Pastorino, Ugo ORCID: 0000-0001-9974-7902, Brustugun, Odd-Terje, Lund-Iversen, Marius, Thunnissen, Erik, Koehler, Jens, Schuler, Martin, Botling, Johan, Sandelin, Martin ORCID: 0000-0002-0370-8819, Sanchez-Cespedes, Montserrat, Salvesen, Helga B., Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Bogus, Magdalena, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Zander, Thomas, Ansen, Sascha, Hallek, Michael, Wolf, Juergen, Vingron, Martin, Yatabe, Yasushi ORCID: 0000-0003-1788-559X, Travis, William D., Nuernberg, Peter, Reinhardt, Christian, Perner, Sven, Heukamp, Lukas ORCID: 0000-0002-3388-3482, Buettner, Reinhard, Haas, Stefan A., Brambilla, Elisabeth, Peifer, Martin ORCID: 0000-0002-5243-5503, Sage, Julien and Thomas, Roman K. (2015). Comprehensive genomic profiles of small cell lung cancer. Nature, 524 (7563). S. 47 - 54. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-4687

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

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

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

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

Gollasch, Benjamin, Basmanav, Fitnat Buket, Nanda, Arti ORCID: 0000-0002-1223-3181, Fritz, Guenter ORCID: 0000-0002-4571-8812, Mahmoudi, Hassnaa, Thiele, Holger, Wehner, Maria, Wolf, Sabrina, Altmueller, Janine, Nuernberg, Peter, Frank, Jorge and Betz, Regina C. (2015). Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. Am. J. Med. Genet. A, 167 (11). S. 2555 - 2563. HOBOKEN: WILEY. ISSN 1552-4833

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

Groen, Justus L., Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E. J., Jongejan, Aldo, Verbeek, Dineke S., Nuernberg, Peter, Denome, Sylvia, Hennekam, Raoul C. M., Lipscombe, Diane, Baas, Frank ORCID: 0000-0003-3912-5428 and Tijssen, Marina A. J. (2015). CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum. Mol. Genet., 24 (4). S. 987 - 994. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Groen, Justus L., Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E. J., Jongejan, Aldo, Verbeek, Dineke S., Nuernberg, Peter, Denome, Sylvia, Hennekam, Raoul C. M., Lipscombe, Diane, Baas, Frank ORCID: 0000-0003-3912-5428 and Tijssen, Marina A. J. (2015). CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum. Mol. Genet., 24 (4). S. 987 - 994. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Grosch, Melanie, Gruener, Barbara, Spranger, Stephanie, Stuetz, Adrian M., Rausch, Tobias ORCID: 0000-0001-5773-5620, Korbel, Jan O., Seelow, Dominik ORCID: 0000-0002-9746-4412, Nuernberg, Peter, Sticht, Heinrich ORCID: 0000-0001-5644-045X, Lausch, Ekkehart, Zabel, Bernhard, Winterpacht, Andreas and Tagariello, Andreas (2013). Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biol., 32 (7-8). S. 387 - 393. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1569-1802

Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nuernberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nuernberg, Peter and Berger, Wolfgang (2014). Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. PLoS One, 9 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Hallmann, Kerstin, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Moskau-Hartmann, Susanna, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Korinthenberg, Rudolf ORCID: 0000-0002-4638-3460, Ruppert, Ann-Kathrin, Ozdemir, Ozkan, Weber, Yvonne, Becker, Felicitas, Lerche, Holger, Elger, Christian E., Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2014). A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology, 83 (23). S. 2183 - 2188. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

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

Hardies, Katia, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Asselbergh, Bob ORCID: 0000-0003-2784-2470, Geuens, Thomas ORCID: 0000-0002-1764-6233, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick ORCID: 0000-0001-8698-3770, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P. J., Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van't Slot, Ruben, Nuernberg, Peter, Balling, Rudi ORCID: 0000-0003-2902-5650, Timmerman, Vincent ORCID: 0000-0002-2162-0933, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo ORCID: 0000-0001-8486-0558, Suls, Arvid ORCID: 0000-0003-0328-198X, Koeleman, Bobby P. C. and De Jonghe, Peter (2015). Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain, 138. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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

Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Roesler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmueller, Janine, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter, Hahnen, Eric and Beck, Bodo B. (2013). A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype. PLoS One, 8 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Hossini, Amir M., Megges, Matthias, Prigione, Alessandro, Lichtner, Bjoern, Toliat, Mohammad R., Wruck, Wasco, Schroeter, Friederike, Nuernberg, Peter, Kroll, Hartmut, Makrantonaki, Eugenia, Zouboulis, Christos C. ORCID: 0000-0003-1646-2608 and Adjaye, James (2015). Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks (vol 16, 84, 2015). BMC Genomics, 16. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2164

Hossini, Amir M., Megges, Matthias, Prigione, Alessandro, Lichtner, Bjoern, Toliat, Mohammad R., Wruck, Wasco, Schroter, Friederike, Nuernberg, Peter, Kroll, Hartmut, Makrantonaki, Eugenia, Zoubouliss, Christos C. and Adjaye, James (2015). Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks. BMC Genomics, 16. LONDON: BMC. ISSN 1471-2164

Hossini, Amir M., Megges, Matthias, Prigione, Alessandro, Lichtner, Bjoern, Toliat, Mohammad R., Wruck, Wasco, Schroter, Friederike, Nuernberg, Peter, Kroll, Hartmut, Makrantonaki, Eugenia, Zoubouliss, Christos C. and Adjaye, James (2015). Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks. BMC Genomics, 16. LONDON: BMC. ISSN 1471-2164

Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick ORCID: 0000-0002-9673-795X, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Mueller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nuernberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole ORCID: 0000-0003-4626-9809, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A. and Boycott, Kym M. (2011). TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. Am. J. Hum. Genet., 89 (6). S. 713 - 731. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Huebers, Annemarie, Just, Walter, Rosenbohm, Angela, Mueller, Kathrin, Marroquin, Nicolai, Goebel, Ingrid, Hoegel, Josef, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Weishaupt, Jochen H., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ludolph, Albert C. and Volk, Alexander E. (2015). De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol. Aging, 36 (11). NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-1497

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

Hussain, Muhammad S., Baig, Shahid M., Neumann, Sascha, Peche, Vivek S., Szczepanski, Sandra, Nuernberg, Gudrun, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Jameel, Muhammad, Khan, Tahir N., Fatima, Ambrin, Malik, Naveed A., Ahmad, Ilyas, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Thiele, Holger, Hoehne, Wolfgang, Yigit, Goekhan, Wollnik, Bernd, Neubauer, Bernd A., Nuernberg, Peter and Noegel, Angelika A. (2013). CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum. Mol. Genet., 22 (25). S. 5199 - 5215. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi ORCID: 0000-0001-8983-2249, Altmueller, Janine, Thiele, Holger, Nuernberg, Gudrun, Moosa, Shahida ORCID: 0000-0002-4463-3067, Yigit, Goekhan, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda ORCID: 0000-0001-9317-8155, Brancati, Francesco, Dobbie, Angus, Smigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G. and Nuernberg, Peter (2014). Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome. Am. J. Hum. Genet., 95 (5). S. 622 - 633. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

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

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

Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmueller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dobyns, William B. and Borck, Guntram (2015). STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum. Genet., 134 (1). S. 45 - 52. NEW YORK: SPRINGER. ISSN 1432-1203

Kakar, Naseebullah, Goebel, Ingrid, Daud, Shakeela, Nuernberg, Gudrun, Agha, Noor, Ahmad, Adeel, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jamil and Borck, Guntram (2012). A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. Eur. J. Med. Genet., 55 (12). S. 727 - 732. AMSTERDAM: ELSEVIER. ISSN 1878-0849

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

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

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

Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2021). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin. Genet., 100 (4). S. 486 - 489. HOBOKEN: WILEY. ISSN 1399-0004

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

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

Khan, Muzammil A., Rupp, Verena M., Orpinell, Meritxell, Hussain, Muhammad S., Altmueller, Janine, Steinmetz, Michel O., Enzinger, Christian, Thiele, Holger, Hoehne, Wolfgang, Nuernberg, Gudrun, Baig, Shahid M., Ansar, Muhammad ORCID: 0000-0001-5891-7063, Nuernberg, Peter, Vincent, John B., Speicher, Michael R., Goenczy, Pierre and Windpassinger, Christian (2014). A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum. Mol. Genet., 23 (22). S. 5940 - 5950. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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

Koehler, Katrin ORCID: 0000-0002-9407-1410, Malik, Meera, Mahmood, Saqib, Giesselmann, Sebastian, Beetz, Christian ORCID: 0000-0001-7061-2895, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nuernberg, Gudrun, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Braemswig, Jurgen, Muehlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame ORCID: 0000-0002-4977-9719, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647, Kurth, Ingo ORCID: 0000-0002-5642-8378, Huebner, Angela and Huebner, Christian A. (2013). Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction. Am. J. Hum. Genet., 93 (4). S. 727 - 735. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Koenig, Katharina, Peifer, Martin ORCID: 0000-0002-5243-5503, Fassunke, Jana, Ihle, Michaela A., Kuenstlinger, Helen, Heydt, Carina, Stamm, Katrin, Ueckeroth, Frank, Vollbrecht, Claudia ORCID: 0000-0002-0861-001X, Bos, Marc, Gardizi, Masyar, Scheffler, Matthias ORCID: 0000-0002-9031-1368, Nogova, Lucia, Leenders, Frauke, Albus, Kerstin, Meder, Lydia ORCID: 0000-0002-9547-5812, Becker, Kerstin, Florin, Alexandra, Rommerscheidt-Fuss, Ursula, Altmueller, Janine, Kloth, Michael, Nuernberg, Peter, Henkel, Thomas, Bikar, Sven-Ernoe, Sos, Martin L., Geese, William J., Strauss, Lewis, Ko, Yon-Dschun, Gerigk, Ulrich, Odenthal, Margarete, Zander, Thomas, Wolf, Juergen, Merkelbach-Bruse, Sabine, Buettner, Reinhard and Heukamp, Lukas C. (2015). Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients. J. Thorac. Oncol., 10 (7). S. 1049 - 1058. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1556-1380

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

Kropatsch, Regina, Dekomien, Gabriele, Akkad, Denis A., Gerding, Wanda M., Petrasch-Parwez, Elisabeth, Young, Neil D., Altmueller, Janine, Nuernberg, Peter, Gasser, Robin B. and Epplen, Joerg T. ORCID: 0000-0002-6087-3327 (2013). SOX9 Duplication Linked to Intersex in Deer. PLoS One, 8 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Kuechler, Alma, Altmueller, Janine, Nuernberg, Peter, Kotthoff, Stefan, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Borck, Guntram (2015). Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. Mol. Cell. Probes, 29 (5). S. 330 - 335. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

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, Pernhorst, Katharina, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Reif, Philipp, Tozzi, Rossana, Toliat, Mohammad R., Winterer, Georg, Neubauer, Bernd, Nuernberg, Peter, Rosenow, Felix, Becker, Felicitas, Lerche, Holger, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Kurki, Mitja I., Hoffmann, Per, Becker, Albert J., Perucca, Emilio, Zara, Federico ORCID: 0000-0001-9744-5222, Sander, Thomas and Weber, Yvonne G. (2015). Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia, 56 (9). S. E129 - 5. HOBOKEN: WILEY. ISSN 1528-1167

Lal, Dennis, Reinthaler, Eva M., Altmueller, Janine, Toliat, Mohammad R., Thiele, Holger, Nuernberg, Peter, Lerche, Holger, Hahn, Andreas, Moller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2013). RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy. PLoS One, 8 (9). 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

Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Baeumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmueller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2014). DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood. Ann. Neurol., 75 (5). S. 788 - 793. HOBOKEN: WILEY-BLACKWELL. ISSN 1531-8249

Lal, Dennis, Steinbruecker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, Lehesjoki, Anna-Elina, Nuernberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo ORCID: 0000-0001-8486-0558, Becker, Albert J., Schoch, Susanne, Hansen, Joerg, Dorn, Thomas, Hohl, Christin, Luescher, Nicole, von Spiczak, Sarah and Lemke, Johannes R. (2015). Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res., 115. S. 95 - 100. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-6844

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

Leineweber, Kirsten, Frey, Ulrich H., Tenderich, Gero, Toliat, Mohammad Reza, Zittermann, Armin, Nuernberg, Peter, Koerfer, Reiner, Siffert, Winfried and Heusch, Gerd (2010). The Arg16Gly-beta(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure. Naunyn-Schmiedebergs Arch. Pharmacol., 382 (4). S. 357 - 366. NEW YORK: SPRINGER. ISSN 1432-1912

Leipold, Enrico, Hanson-Kahn, Andrea, Frick, Miya, Gong, Ping, Bernstein, Jonathan A., Voigt, Martin, Katona, Istvan ORCID: 0000-0002-0955-8911, Goral, R. Oliver, Altmueller, Janine, Nuernberg, Peter, Weis, Joachim ORCID: 0000-0003-3280-6773, Huebner, Christian A., Heinemann, Stefan H. ORCID: 0000-0002-4144-0251 and Kurth, Ingo ORCID: 0000-0002-5642-8378 (2015). Cold-aggravated pain in humans caused by a hyperactive Na(V)1.9 channel mutant. Nat. Commun., 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

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