Search Results - Scheffer, Stephan R.

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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.

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    Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes by Chen, Siwei, Abou-Khalil, Bassel W., Afawi, Zaid, Ali, Quratulain Zulfiqar, Amadori, Elisabetta, Anderson, Alison, Anderson, Joe, Andrade, Danielle M., Annesi, Grazia, Arslan, Mutluay, Auce, Pauls, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Banks, Eric, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bass, Nick, Baum, Larry W., Baumgartner, Tobias H., Baykan, Betül, Bebek, Nerses, Becker, Felicitas, Bennett, Caitlin A., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blackwood, Douglas, Blatt, Ilan, Borggräfe, Ingo, Bosselmann, Christian, Braatz, Vera, Brand, Harrison, Brockmann, Knut, Buono, Russell J., Busch, Robyn M., Caglayan, S. Hande, Canafoglia, Laura, Canavati, Christina, Castellotti, Barbara, Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherian, Christina, Cherny, Stacey S., Cheung, Ching-Lung, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Ciullo, Valentina, Clark, Peggy O., Cole, Andrew J., Cosico, Mahgenn, Cossette, Patrick, Cotsapas, Chris, Cusick, Caroline, Daly, Mark J., Davis, Lea K., Jonghe, Peter De, Delanty, Norman, Dennig, Dieter, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Vito, Lidia Di, Dickerson, Faith, Dlugos, Dennis J., 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., Silva, Izabela Ferreira Da, Ferri, Lorenzo, Feucht, Martha, Fields, Madeline C., Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, French, Jacqueline A., Freri, Elena, Fu, Jack M., Gabriel, Stacey, Gagliardi, Monica, Gambardella, Antonio, Gauthier, Laura, Giangregorio, Tania, Gili, Tommaso, Glauser, Tracy A., Goldberg, Ethan, Goldman, Alica, Goldstein, David B.

    Published in Nature neuroscience
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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, Çiğdem, 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.

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    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 by Lin, Sheng-Jia, Orr, David, Holden, Simon, Harrison, Mike, Burrows, Nigel, Petree, Cassidy, Donnelly, Deirdre, Ambrose, J.C., Arumugam, P., Boardman-Pretty, F., Chan, G.C., Henderson, S., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Lopez, F.J., Maleady-Crowe, F., O‘Donovan, P., Patch, C., Pereira, M.B., Rahim, T., Savage, K., Sieghart, A., Taylor Tavares, A.L., Thomas, E.R.A., Tucci, A., Welland, M.J., Williams, E., Zurek, Birte, Demidov, German, Schulze-Hentrich, Julia M., Kessler, Christoph, Traschütz, Andreas, Schöls, Ludger, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, van Os, Nienke, Janssen, Erik, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Mehtarizadeh, Mehdi, Töpf, Ana, Banka, Siddharth, Faivre, Laurence, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Laurie, Steven, Matalonga, Leslie, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Hanauer, Marc, Havrylenko, Svitlana, Izem, Katia, Nelson, Isabelle, Eymard, Bruno, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremlik, Vlastimil, Parkinson, Helen, Robinson, Peter, Hanna, Mike, Houlden, Henry, Vandrovcova, Jana, Muntoni, Francesco, Sarkozy, Anna, Van de Vondel, Liedewei, Banfi, Sandro, Aretz, Stefan, Spier, Isabel, José, Celina São, Ferreira, Marta, Carneiro, Fátima, Johansson, Lennart, van der Vries, Gerben, Roelofs-Prins, Dieuwke, Castello, Raffaele, Morleo, Manuela, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Renieri, Alessandra, Benetti, Elisa, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Polavarapu, Kiran, Beeson, David, Udd, Bjarne, Holinski-Feder, Elke, Steinke-Lange, Verena, Schröck, Evelin, Varshney, Gaurav K.

    Published in HGG advances
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