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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Title: Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Authors: Epi25 Collaborative; Chen, Siwei; Arslan, Mutluay; Goldstein, David B.; Granata, Tiziana; Grant, Riley; Greenberg, David A.; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Auce, Pauls; Häusler, Martin Georg; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Bahlo, Melanie; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R.; Johnstone, Mandy; Baker, Mark D.; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M.; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Balagura, Ganna; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D.; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Balestrini, Simona; Krey, Ilona; Kunz, Wolfram S.; Kurlemann, Gerhard; Kuzniecky, Ruben I.; Kwan, Patrick; La Vega-Talbott, Maite; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Banks, Eric; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Barba, Carmen; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H.; Lowther, Chelsea; Lubbers, Laura; Barboza, Karen; Lui, Colin H. T.; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G.; Matthews, Abigail G.; Bartolomei, Fabrice; May, Patrick; Mayer, Thomas; McArdle, Wendy; McCarroll, Steven M.; McGoldrick, Patricia; McGraw, Christopher M.; McIntosh, Andrew; McQuillan, Andrew; Meador, Kimford J.; Mei, Davide; Abou-Khalil, Bassel W.; Bass, Nick; Michel, Véronique; Millichap, John J.; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M.; Nasreddine, Wassim; Baum, Larry W.; Neaves, Samuel; Neubauer, Bernd A.; Newton, Charles R. J. C.; Noebels, Jeffrey L.; Northstone, Kate; Novod, Sam; O'Brien, Terence J.; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Baumgartner, Tobias H.; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B.; Petrovski, Slavé; Pickrell, William O.; Pinsky, Rebecca; Pinto, Dalila; Baykan, Betül; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H. W.; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Bebek, Nerses; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R.; Rees, Mark I.; Regan, Brigid M.; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M.; Riva, Antonella; Becker, Felicitas; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Bennett, Caitlin A.; Schachter, Steven; Schaller, André; Schankin, Christoph J.; Scheffer, Ingrid E.; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Beydoun, Ahmad; Sham, Pak C.; Shiedley, Beth R.; Siena, S. Anthony; Sills, Graeme J.; Sisodiya, Sanjay M.; Smoller, Jordan W.; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R.; Sperling, Michael R.; Bianchini, Claudia; Stamberger, Hannah; Steinhoff, Bernhard J.; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Bisulli, Francesca; Talarico, Mariagrazia; Talkowski, Michael E.; Taneja, Randip S.; Tanteles, George A.; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Afawi, Zaid; Blackwood, Douglas; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; Blatt, Ilan; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G.; Watts, Nick; Weber, Yvonne; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M.; Wolff, Markus; Borggräfe, Ingo; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Bosselmann, Christian; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M.; Berkovic, Samuel F.; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J.; Busch, Robyn M.; Caglayan, S. Hande; Ali, Quratulain Zulfiqar; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S.; Cheung, Ching-Lung; Chou, I.-Jun; Amadori, Elisabetta; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O.; Cole, Andrew J.; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J.; Anderson, Alison; Davis, Lea K.; De Jonghe, Peter; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dickerson, Faith; Dlugos, Dennis J.; Anderson, Joe; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Ellis, Colin A.; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N.; Andrade, Danielle M.; Da Silva, Izabela Ferreira; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C.; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A.; Freri, Elena; Annesi, Grazia; Fu, Jack M.; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A.; Goldberg, Ethan; Goldman, Alica
Source: 48 Seiten (2024). doi:10.1101/2023.02.22.23286310
Publication Year: 2024
Collection: RWTH Aachen University: RWTH Publications
Subject Geographic: DE
Document Type: report
Language: English
Availability: https://publications.rwth-aachen.de/record/1007717; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-254070%22
Rights: info:eu-repo/semantics/openAccess
Accession Number: edsbas.4F9C91E1
Database: BASE