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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

by Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Singh, Tarjinder, Watts, Nick, Lal, Dennis, Hakonarson, Hakon, Weckhuysen, Sarah, Petrovski, Slavé, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Guerrini, Renzo, Marson, Anthony G., Depondt, Chantal, Striano, Pasquale, Freyer, Catharine, Regan, Brigid M., Leu, Costin, Johns, Esther M.C., Macdonald, Alexandra, Bahlo, Melanie, Todaro, Marian, Stamberger, Hannah, Sadoway, Tara R., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Rademacher, Michael, van Baalen, Andreas, von Spiczak, Sarah, Afawi, Zaid, Canavati, Christina, Kluger, Gerhard, Blatt, Ilan, Weber, Yvonne G., Wolking, Stefan, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Madeleyn, Rene, Kälviäinen, Reetta, Linnankivi, Tarja, Chung, Seo-Kyung, Balestrini, Simona, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sham, Pak C., Lui, Colin H.T., Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Vari, Maria Stella, Salpietro, Vincenzo, Tinuper, Paolo, Gagliardi, Monica, Montomoli, Martino, Doccini, Viola, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., Caglayan, S. Hande, Arslan, Mutluay, Yis, Uluc, Topaloglu, Pınar, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, French, Jacqueline A., Kuzniecky, Ruben I., Hegde, Manu, Helbig, Katherine L., Piras, Federica, Reif, Andreas, McQuillin, Andrew, Johnstone, Mandy, Palotie, Aarno, Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Rapaport, Mark H., Knowles, James A., McCarroll, Steven A., Lowenstein, Daniel H., Goldstein, David B.
Published in American journal of human genetics (01.08.2019)

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

by Povysil, Gundula, Allen, Andrew S., Howrigan, Daniel P., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Heyne, Henrike, Churchhouse, Claire, Watts, Nick, Lal, Dennis, Gupta, Namrata, Cavalleri, Gianpiero L., Hakonarson, Hakon, Marson, Anthony G., Petrovski, Slavé, Sisodiya, Sanjay M., Depondt, Chantal, Scheffer, Ingrid E., Krause, Roland, Regan, Brigid M., Leu, Costin, Leech, Stephanie L., Todaro, Marian, Stamberger, Hannah, Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Laššuthová, Petra, Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Rademacher, Annika, von Spiczak, Sarah, Kanaan, Moien, Canavati, Christina, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Kegele, Josua, Borggräfe, Ingo, Mayer, Thomas, Brockmann, Knut, Madeleyn, Rene, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Derambure, Philippe, Hirsch, Edouard, Chassoux, Francine, Chung, Seo-Kyung, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Johnson, Michael R., Auce, Pauls, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Iacomino, Michele, Riva, Antonella, Vari, Maria Stella, Salpietro, Vincenzo, Mancardi, Maria Margherita, Nobili, Lino, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Tinuper, Paolo, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Parrini, Elena, Bianchini, Claudia, Montomoli, Martino, Hirose, Shinichi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Sadleir, Lynette G., Topaloglu, Pınar, Baykan, Betül, Özkara, YeşÇiğdem, Ho, Chen-Jui, Chou, I-Jun, Shain, Catherine, Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Ferguson, Lisa, Clark, Peggy O., Privitera, Michael, Schachter, Steven, Cosico, Mahgenn, Lowenstein, Daniel H., Goldstein, David B.
Published in American journal of human genetics (03.06.2021)

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