Universität zu Köln

Journal Article

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

Acosta-Herrera, Marialbert, Kerick, Martin, Gonzalez-Serna, David, Wijmenga, Cisca ORCID: 0000-0002-5635-1614, Franke, Andre, Gregersen, Peter K., Padyukov, Leonid, Worthington, Jane, Vyse, Timothy James, Eugenia Alarcon-Riquelme, Marta, Mayes, Maureen D., Martin, Javier ORCID: 0000-0002-2202-0622, Miller, Frederick W., Chen, Wei, O'Hanlon, Terrance P., Cooper, Robert G., Vencovsky, Jiri ORCID: 0000-0002-0851-0713, Rider, Lisa G., Danko, Katalin, Wedderburn, Lucy R., Lundberg, Ingrid E., Pachman, Lauren M., Reed, Ann M., Ytterberg, Steven R., Selva-O'Callaghan, Albert ORCID: 0000-0003-2823-9761, Radstake, Timothy R., Isenberg, David A., Chinoy, Hector, Ollier, William E. R., Scheet, Paul, Peng, Bo, Lee, Annette, Lamb, Janine A., Amos, Christopher I., Denton, Christopher, Hilton-Jones, David, Plotz, Paul H., Varsani, Hemlata, Radstake, Timothy R. D. J., Gorlova, Olga, Rueda, Blanca, Martin, Jose-Ezequiel, Alizadeh, Behrooz Z., Palomino-Morales, Rogelio, Coenen, Marieke J., Vonk, Madelon C., Voskuyl, Alexandre E., Scheurwegh, Annemie J., Broen, Jasper C., van Riel, Piet L. C. M., van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Riemekasten, Gabriela, Hunzelmann, Nico, Simeon, Carmen P., Ortego-Centeno, Norberto ORCID: 0000-0003-2325-0937, Gonzalez-Gay, Miguel A., Gonzalez-Escribano, Maria F., Airo, Paolo, van Laar, Jaap, Herrick, Ariane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul, Westhovens, Rene, Kreuter, Alexander, Kiener, Hans, de Baere, Elfride, Witte, Torsten, Klareskog, Lars, Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Scorza, Rafaella, Lie, Benedicte A., Hoffman-Vold, Anna-Maria, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Ying, Jun, Han, Younghun, Weng, Shih-Feng, Wigley, Fredrick M., Hummers, Laura, Nelson, J. Lee, Agarwal, Sandeep K., Assassi, Shervin, Gourh, Pravitt, Tan, Filemon K., Koeleman, Bobby P. C. and Arnett, Frank C. (2019). Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. Ann. Rheum. Dis., 78 (3). S. 311 - 320. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2060

David Carmona, F., Simeon, Carmen P., Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Carreira, Patricia, Vonk, Madelon C., Rios-Fernandez, Raquel ORCID: 0000-0001-6630-8292, Espinosa, Gerard ORCID: 0000-0003-1336-0163, Navarrete, Nuria, Vicente-Rabaneda, Esther, Rodriguez-Rodriguez, Luis ORCID: 0000-0002-2869-7861, Tolosa, Carlos, Garcia-Hernandez, Francisco J., Castellvi, Ivan ORCID: 0000-0002-5410-5807, Victoria Egurbide, Maria, Fonollosa, Vicente, Gonzalez-Gay, Miguel A. ORCID: 0000-0002-7924-7406, Rodriguez-Carballeira, Monica, Diaz-Gonzalez, Federico ORCID: 0000-0002-4139-9295, Saez-Comet, Luis, Hesselstrand, Roger, Riemekasten, Gabriela, Witte, Torsten, Voskuyl, Alexandre E., Schuerwegh, Annemie J., Madhok, Rajan, Shiels, Paul ORCID: 0000-0002-7577-9843, Fonseca, Carmen, Denton, Christopher, Nordin, Annika ORCID: 0000-0003-1976-4679, Palm, Oyvind ORCID: 0000-0001-5395-0665, Hoffmann-Vold, Anna-Maria, Airo, Paolo, Scorza, Raffaella, Lunardi, Claudio, van Laar, Jacob M., Hunzelmann, Nicolas, Kreuter, Alexander, Herrick, Ariane ORCID: 0000-0003-4941-7926, Worthington, Jane ORCID: 0000-0003-0544-042X, Koeleman, Bobby P. C., Radstake, Timothy R. D. J. and Martin, Javier ORCID: 0000-0002-2202-0622 (2011). Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis. Ann. Rheum. Dis., 70 (11). S. 2050 - 2053. LONDON: B M J PUBLISHING GROUP. ISSN 0003-4967

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

Heyne, Henrike O., Singh, Tarjinder ORCID: 0000-0003-0601-6815, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Moller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale ORCID: 0000-0002-6065-1476, Tang, Sha, Wu, Sitao, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis and Lemke, Johannes R. (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nature Genet., 50 (7). S. 1048 - 1056. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

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

Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik ORCID: 0000-0002-8387-2247, Stromme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J. V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh ORCID: 0000-0002-0658-3847, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Richholt, Ryan, Koeleman, Bobby P. C., Sa, Joaquim, Mendonca, Carla ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine ORCID: 0000-0001-9024-310X, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amelie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo ORCID: 0000-0001-8486-0558, Michaud, Jacques L., Laube, Bodo and Syrbe, Steffen (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology, 86 (23). S. 2171 - 2179. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Leu, Costin, Stevelink, Remi, Smith, Alexander W., Goleva, Slavina B., Kanai, Masahiro ORCID: 0000-0001-5165-4408, Ferguson, Lisa, Campbell, Ciaran, Kamatani, Yoichiro, Okada, Yukinori, Sisodiya, Sanjay M., Cavalleri, Gianpiero L., Koeleman, Bobby P. C., Lerche, Holger, Jehi, Lara, Davis, Lea K., Najm, Imad M., Palotie, Aarno, Daly, Mark J., Busch, Robyn M. and Lal, Dennis (2019). Polygenic burden in focal and generalized epilepsies. Brain, 142. S. 3473 - 3482. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Lopez-Isac, Elena ORCID: 0000-0001-8806-5148, Acosta-Herrera, Marialbert, Kerick, Martin, Assassi, Shervin, Satpathy, Ansuman T., Granja, Jeffrey, Mumbach, Maxwell R., Beretta, Lorenzo, Simeon, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto ORCID: 0000-0003-2325-0937, Castellvi, Ivan ORCID: 0000-0002-5410-5807, Bossini-Castillo, Lara ORCID: 0000-0002-5471-5824, David Carmona, F., Orozco, Gisela ORCID: 0000-0002-3479-0448, Hunzelmann, Nicolas, Distler, Joerg H. W., Franke, Andre, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, de Vries-Bouwstra, Jeska, Wijmenga, Cisca ORCID: 0000-0002-5635-1614, Koeleman, Bobby P. C., Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Lie, Benedicte, Rios, R., Callejas, J. L., Vargas-Hitos, J. A., Garcia-Portales, R., Camps, M. T., Fernandez-Nebro, A., Gonzalez-Escribano, M. F., Garcia-Hernandez, F. J., Castillo, M. J., Aguirre, M. A., Gomez-Gracia, I., Fernandez-Gutierrez, B., Rodriguez-Rodriguez, L., Garcia de la Pena, P., Vicente, E., Andreu, J. L., Fernandez de Castro, M., Lopez-Longo, F. J., Martinez, L., Fonollosa, V, Guillen, A., Espinosa, G., Tolosa, C., Pros, A., Rodriguez-Carballeira, M., Narvaez, F. J., Rubio-Rivas, M., Ortiz-Santamaria, V, Madronero, A. B., Gonzalez-Gay, M. A., Diaz, B., Trapiella, L., Sousa, A., Egurbide, M. V., Fanlo-Mateo, P., Saez-Comet, L., Diaz, F., Hernandez, V, Beltran, E., Roman-Ivorra, J. A., Grau, E., Alegre-Sancho, J. J., Freire, M., Blanco-Garcia, F. J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airo, P., Magro, C., Voskuyl, A. E., Vonk, M. C., Hesselstrand, R., Proudman, Susanna, Stevens, Wendy, Nikpour, Mandana, Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, Timothy, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Allanore, Yannick, Brown, Matthew A., Radstake, Timothy R. D. J., Fonseca, Carmen, Chang, Howard Y., Mayes, Maureen D. and Martin, Javier ORCID: 0000-0002-2202-0622 (2019). GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Lopez-Isac, Elena ORCID: 0000-0001-8806-5148, Bossini-Castillo, Lara ORCID: 0000-0002-5471-5824, Guerra, Sandra G., Assassi, Shervin, Zhou, Xiaodong, Simeon, Carmen P., Ortego-Centeno, Norberto, Castellvi, Ivan, Carreira, Patricia, Gorlova, Olga, Beretta, Lorenzo, Santaniello, Alessandro, Lunardi, Claudio, Hesselstrand, Roger, Nordin, Annika, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Joerg H. W., Voskuyl, Alexandre E., De Vries-Bouwstra, Jeska K., Koeleman, Bobby P. C., Herrick, Ariane, Worthington, Jane, Denton, Christopher, Fonseca, Carmen, Radstake, T. R. D. J., Mayes, Maureen D. and Martin, Javier ORCID: 0000-0002-2202-0622 (2014). Identification of IL12RB1 As a Novel Systemic Sclerosis Susceptibility Locus. Arthritis Rheumatol., 66. S. S331 - 1. HOBOKEN: WILEY-BLACKWELL. ISSN 2326-5205

Lopez-Isac, Elena ORCID: 0000-0001-8806-5148, Martin, Jose-Ezequiel, Assassi, Shervin, Simeon, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltran, Emma, Narvaez, Javier ORCID: 0000-0002-1614-8064, Alegre-Sancho, Juan J., Fernandez-Gutierrez, Benjamin, Balsa, Alejandro, Ortiz, Ana M., Gonzalez-Gay, Miguel A., Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jorg H. W., Riekemasten, Gabriella, van der Helm-Van Mil, Annette H., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Oyvind, Merriman, Tony ORCID: 0000-0003-0844-8726, Hesselstrand, Roger, Nordin, Annika ORCID: 0000-0003-1976-4679, Padyukov, Leonid ORCID: 0000-0003-2950-5670, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby P. C., Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R. D. J., Worthington, Jane, Mayes, Maureen D. and Martin, Javier ORCID: 0000-0002-2202-0622 (2016). IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies. Arthritis Rheumatol., 68 (9). S. 2338 - 2345. HOBOKEN: WILEY-BLACKWELL. ISSN 2326-5205

Martin, Javier ORCID: 0000-0002-2202-0622, Ochoa, Eguzkine, Ezequiel Martin, Jose, Assassi, Shervin, Beretta, Lorenzo, Caireira, Patricia, Pilar Simeon, Carmen, Koumakis, Eugenie, Dieude, Philippe, Allanore, Yannick, Garcia-Hernandez, Francisco J., Espinosa, Gerard ORCID: 0000-0003-1336-0163, Castellvi Barranco, Ivan, Trapiella, Luis, Rodriguez Rodriguez, Luis, Gonzalez-Gay, Miguel A., Egurbide, Maria-Victoria, Saez, Luis, Luis Callejas, Jose, Vargas-Hitos, J. A., Hunzelmann, Nicolas, Riemekasten, Gabriela, Witte, Torsten, Distler, Joerg H. W., Kreuter, Alexander, Lunardi, Claudio, Santaniello, Alessandro, Tan, Filemon K., Arnett, Frank C., Shiels, Paul, Herrick, Ariane L., Worthington, Jane, Vonk, Madelon C., Koeleman, Bobby P. C., Radstake, T. R. D. J. and Mayes, Maureen (2014). Systemic Sclerosis Patients with Antitopoisomerase Antibodies Showed Significant Association with CCR6 Polymorphisms. Arthritis Rheumatol., 66. S. S328 - 1. HOBOKEN: WILEY-BLACKWELL. ISSN 2326-5205

Martin, Jose-Ezequiel, Assassi, Shervin, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Simeon, Carmen P., Castellvi, Ivan ORCID: 0000-0002-5410-5807, Vicente-Rabaneda, Esther, Fonollosa, Vicente, Ortego-Centeno, Norberto, Gonzalez-Gay, Miguel A. ORCID: 0000-0002-7924-7406, Espinosa, Gerard ORCID: 0000-0003-1336-0163, Carreira, Patricia, Camps, Mayte, Sabio, Jose M., D'alfonso, Sandra, Vonk, Madelon C., Voskuyl, Alexandre E., Schuerwegh, Annemie J., Kreuter, Alexander, Witte, Torsten, Riemekasten, Gabriella, Hunzelmann, Nicolas, Airo, Paolo, Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Scorza, Raffaella, Lunardi, Claudio, Van Laar, Jacob, Chee, Meng May, Worthington, Jane ORCID: 0000-0003-0544-042X, Herrick, Arianne, Denton, Christopher, Fonseca, Carmen, Tan, Filemon K., Arnett, Frank, Zhou, Xiaodong, Reveille, John D., Gorlova, Olga, Koeleman, Bobby P. C., Radstake, Timothy R. D. J., Vyse, Timothy, Mayes, Maureen D., Alarcon-Riquelme, Marta E. ORCID: 0000-0002-7632-4154 and Martin, Javier ORCID: 0000-0002-2202-0622 (2013). A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. Hum. Mol. Genet., 22 (19). S. 4021 - 4030. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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

Schellevis, Rosa L., van Dijk, Elon H. C., Breukink, Myrte B., Altay, Lebuz, Bakker, Bjorn, Koeleman, Bobby P. C., Kiemeney, Lambertus A. ORCID: 0000-0002-2368-1326, Swinkels, Dorine W., Keunen, Jan E. E., Fauser, Sascha, Hoyng, Carel B., den Hollander, Anneke, I, Boon, Camiel J. F. and de Jong, Eiko K. (2018). Role of the Complement System in Chronic Central Serous Chorioretinopathy A Genome-Wide Association Study. JAMA Ophthalmol., 136 (10). S. 1128 - 1137. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173

Schubert, Julian, Siekierska, Aleksandra ORCID: 0000-0003-4907-605X, Langlois, Melanie, May, Patrick ORCID: 0000-0001-8698-3770, Huneau, Clement, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid ORCID: 0000-0003-0328-198X, Lemke, Johannes R., de Kovel, Carolien G. F., Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R., Sander, Thomas, Rueschendorf, Franz, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Nagel, Inga, Kohl, Bernard, Kecskes, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H., Baulac, Stephanie ORCID: 0000-0001-6430-4693, Moller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C., Glusman, Gustavo ORCID: 0000-0001-8060-5955, Hood, Leroy, Galas, David J., Martin, Benoit, de Witte, Peter A. M., Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Balling, Rudi ORCID: 0000-0003-2902-5650, Nuernberg, Peter, Crawford, Alexander D., Esguerra, Camila V., Weber, Yvonne G. and Lerche, Holger (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature Genet., 46 (12). S. 1327 - 1333. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Steffens, Michael ORCID: 0000-0002-6445-8593, Leu, Costin ORCID: 0000-0003-0598-3301, Ruppert, Ann-Kathrin, Zara, Federico ORCID: 0000-0001-9744-5222, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio ORCID: 0000-0001-7384-3074, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G. F., Trenite, Dorothee Kasteleijn-Nolst, de Haan, Gerrit-Jan ORCID: 0000-0003-2373-9863, Lindhout, Dick ORCID: 0000-0001-9580-624X, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuss-Lie, Ailing A., Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Surges, Rainer ORCID: 0000-0002-3177-8582, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo ORCID: 0000-0001-8486-0558, Stephani, Ulrich, Moller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah ORCID: 0000-0003-1949-8489, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Leguern, Eric, Guerrero, Rosa ORCID: 0000-0002-4138-4667, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Moerzinger, Martina, Feucht, Martha, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid ORCID: 0000-0003-0328-198X, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena ORCID: 0000-0002-3833-3754, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Gieger, Christian ORCID: 0000-0001-6986-9554, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David ORCID: 0000-0002-4332-6110, Franke, Andre ORCID: 0000-0003-1530-5811, Meesters, Christian ORCID: 0000-0003-2408-7588, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rueschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nuernberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P. C. and Sander, Thomas (2012). Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum. Mol. Genet., 21 (24). S. 5359 - 5373. OXFORD: OXFORD UNIV PRESS. ISSN 0964-6906

Wolking, Stefan ORCID: 0000-0002-1460-6623, Schulz, Herbert, Nies, Anne T., McCormack, Mark, Schaeffeler, Elke, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Klein, Karl M., Krenn, Martin, Moller, Rikke S., Nikanorova, Marina, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Johnson, Michael R., Koeleman, Bobby P. C., Kunz, Wolfram S., Marson, Anthony G., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale ORCID: 0000-0002-6065-1476, Zara, Federico, Zimprich, Fritz, Weber, Yvonne G., Krause, Roland, Sisodiya, Sanjay, Schwab, Matthias, Sander, Thomas and Lerche, Holger (2020). Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics, 21 (5). S. 325 - 336. LONDON: FUTURE MEDICINE LTD. ISSN 1744-8042