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


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    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice von McKnight, Dianalee, Morales, Ana, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Freeman, Jeremy L, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Schatz, Krista, Kalika, Paige M, Plaza, Lautaro, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Smith, Douglas M, Massingham, Lauren J, Costin, Carrie E, Ostrander, Betsy, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Chernuha, Veronika, Meibos, Bailey, Sweney, Matthew T, Espinoza, A. Chris, Van Orman, Colin B, Weinstock, Arie, Kumar, Ashutosh, Nolan, Danielle A, Raza, Muhammad, Marsh, Eric D, Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W, Guzmán, Guillermo G, Pavliuk, Mariia

    Veröffentlicht in JAMA neurology

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    Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals von 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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    Prognostic Implications of Residual Tricuspid Regurgitation Grading After Transcatheter Tricuspid Valve Repair von Dreyfus, Julien, Taramasso, Maurizio, Kresoja, Karl-Patrik, Iliadis, Christos, Russo, Giulio, Weber, Marcel, Nombela-Franco, Luis, Estevez Loureiro, Rodrigo, Stolz, Lukas, Praz, Fabien, Windecker, Stephan, Zamorano, Jose Luis, von Bardeleben, Ralph Stephan, Hahn, Rebecca, Webb, John, Fam, Neil, Lauten, Alexander, Rodés-Cabau, Josep, Nejjari, Mohammed, Alessandrini, Hannes, Himbert, Dominique, Sievert, Horst, Piayda, Kerstin, Donal, Erwan, Modine, Thomas, Nickenig, Georg, Pfister, Roman, Bernick, Jordan, Wells, George A., Bax, Jeroen, Lurz, Philipp, Enriquez-Sarano, Maurice, Maisano, Francesco, Messika-Zeitoun, David, Ajmone-Marsan, Nina, Badano, Luigi, Bartko, Philipp, Bax, Jeroen, Bazire, Baptiste, Bernick, Jordan, Bohbot, Yohan, Carnero-Alcazar, Manuel, Chan, Vincent, Crestanello, Juan, De Bonis, Michele, Doguet, Fabien, Donal, Erwan, Dreyfus, Julien, Enriquez-Sarano, Maurice, Eixerés-Esteve, Andrea, Loureiro, Rodrigo Estevez, Fam, Neil, Flagiello, Michele, Galloo, Xavier, Gavazzoni, Mara, Hahn, Rebecca, Hausleiter, Jörg, Himbert, Dominique, Iliadis, Christos, Iung, Bernard, Juarez-Casso, Fernando, Kresoja, Karl-Patrick, Latib, Azeem, Lauten, Alexander, Le Tourneau, Thierry, Lim, Pascal, Lubos, Edith, Lurz, Philipp, Maisano, Francesco, Mbaki, Yannick, Messika-Zeitoun, David, Muraru, Denisa, Nejjari, Mohammed, Nicol, Martin, Nombela-Franco, Luis, Obadia, Jean-François, Omran, Hazem, Pedrazzini, Giovanni, Pfister, Roman, Piayda, Kerstin, Praz, Fabien, Radu, Costin, Riant, Elisabeth, Rodés-Cabau, Josep, Ruf, Tobias, Russo, Giulio, Sala, Alessandra, Sievert, Horst, Stolz, Lukas, Tang, Gilbert H.L., Taramasso, Maurizio, Tomasi, Jacques, Topilsky, Yan, Tribouilloy, Christophe, Viau, Florence, Webb, John, Weber, Marcel, Wells, George A., Windecker, Stephan, Zamorano, Jose Luis


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