학술논문
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Academic Journal
Collaborative, Epi25; Feng, Yen-Chen Anne; Howrigan, Daniel P; Abbott, Liam E; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L; Dhindsa, Ryan S; Stanley, Kate E; Cavalleri, Gianpiero L; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J; Scheffer, Ingrid E; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M; Bellows, Susannah T; Leu, Costin; Bennett, Caitlin A; Johns, Esther MC; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O’Brien, Terence J; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M; Sadoway, Tara R; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S; Kousiappa, Ioanna; Tanteles, George A; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S; Knake, Susanne; Kunz, Wolfram S; Zsurka, Gábor; Elger, Christian E; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R; Krey, Ilona; Weber, Yvonne G; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F; Steinhoff, Bernhard J; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert
American Journal of Human Genetics. 105(2)
Abdelmalak, Basem B.; Abu-Omar, Yasir; Achilli, Felice; Adams, Sasha D.; Aguirre-Bermeo, Hernán; Ahmed, Anas A.; Aiello, Salvatore R.; Akbari, Ayub; Alarcon, Louis H.; Aldo, F. Luke; Alfaro-Maguyon, Maria Estela; Amin, Arpit; Angeli, Paolo; Annoni, Filippo; Antonelli, Massimo; Antongiorgi, Zarah D.; Antoniadou, Anastasia; Arnaoutakis, Dean J.; Astiz, Mark E.; Azoulay, Élie; Baeza, Cristian; Baldisseri, Marie R.; Balogh, Zsolt J.; Banerjee, Arna; Bansal, Shweta; Barbier, François; Barjaktarevic, Igor; Bassin, Sarice L.; Bastarache, Julie A.; Baturin, Brian; Bausch, Daniel G.; Beaulieu, Yanick; Beaver, Thomas; Bello, Giuseppe; Bellomo, Rinaldo; Bentea, Georgiana; Bermeo-Ovalle, Adriana C.; Bernard, Gordon R.; Berry, Cherisse; Bierens, Joost; Biffl, Walter L.; Bihari, Shailesh; Bleck, Thomas P.; Bledsoe, Thomas A.; Bloch, Karen C.; Boggild, Andrea K.; Boncyk, Christina; Bond, Geoffrey J.; Bradshaw, Michael J.; Brakenridge, Scott; Branson, Richard D.; Brimioulle, Serge; Brinson, Erika L.; Brocca, Alessandra; Broman, Marcus Ewert; Brook, Itzhak; Brown, Christian J.; Brunsvold, Melissa E.; Buetti, Niccolò; Bulger, Eileen M.; Cain, Christian; Calverley, Peter M.A.; Cappelletty, Diane M.; Casado-Arroyo, Ruben; Cecconi, Maurizio; Chae, June M.; Chawla, Lakhmir S.; Chan, Edward D.; Chandrashekaran, Satish; Chandrika, Sharad; Chang, Wan-Tsu W.; Chen, Dhruti P.; Chopra, Amit; Christie, S. Ariane; Christman, John W.; Cioci, Alessia C.; Clark, Edward G.; Cocanour, Christine; Cohen, Mitchell; Cole, Kelli A.; Coleman, Lauren; Collins, Caitlin; Cook, Jared; Cooney, Robert N.; Corbridge, Thomas; Cornely, Oliver A.; Cortes-Lopez, Roxana; Crandall, Marie L.; Čretnik, Andrej; Ashley, Chasen; Crouser, Elliott D.; Navarro, Jovany Cruz; Curtis, J. Randall; Dalton, Heidi J.; Darby, Joseph M.; Davies, John D.; Dayton, Orrin L.; D’Costa, Rohit L.; de Smet, Anne Marie G.A.; Desai, Mehul A.; Deutschman, Clifford; Dexter, Amanda M.; Dhillon, Anahat; Muzio, Francesca Di; Diaz, Jose J., Jr.; Dixon, Alexandra L.; Doelken, Peter; Doidge, James; Dolinak, Joan; Donahoe, Michael; Driscoll, Ian R.; Elhassan, Elwaleed A.; Elie-Turenne, Marie Carmelle; Elmufdi, Firas; Ely, E. Wesley; Emlet, Lillian L.; Emtiazjoo, Amir M.; Ershoff, Brent; Estrera, Anthony L.; Faggiano, Chiara; Falk, Ronald J.; Farmer, Brenna; Farwell, Alan P.; Feild, Carinda; Feller-Kopman, David; Hernandez, Samantha Fernandez; Ferrando-Vivas, Paloma; Ferrer, Miguel; Fisher, Caleb; Fishman, Guy; Flock, Jens, IV; Forman, Lisa; Fortune, Brett E.; Freedman, Barry I.; Fried, Elchanan; Gambino, Carmine; Gardiner, Dale; Gattinoni, Luciano; Gazmuri, Raúl J.; Gehr, Todd W.B.; Gerlach, Herwig; Ghobrial, R. Mark; Giamarellou, Helen; Ginsberg, Fredric; Gleason, Thomas G.; Gorcsan, John, III; Gozal, Yaacov; Gradon, Jeremy D.; Graves, Cornelia R.; Greco, Massimiliano; Gregoretti, Cesare; Gropper, Michael A.; Gubbins, Paul O.; Gudzenko, Vadim; Gunnerson, Kyle J.; Gunst, Jan; Gustafson, Kate S.; Haase, Michael; Haase-Fielitz, Anja; Habib, Fahim; Harbrecht, Brian G.; Harrison, David; Hill, Nicholas S.; Hiremath, Swapnil; Hladik, Gerald A.; Hoffman, Marcus K.; Hollenberg, Steven M.; Hoste, Eric A.J.; Hsu, Albert; Huang, David T.; Huber, Thomas S.; Huggins, J. Terrill; Hamera, Joseph A.; Ibrahim, Joseph Abdellatif; Isaac, Margaret L.; Jabbour, Ibrahim I.; Jacquerioz, Frederique A.; Jadhav, Ashutosh, P.; Jain, Sumeet V.; Jansson, Paul S.; Jeng, Eric I.; Jozwiak, Mathieu; Kabrhel, Christopher; Kain, Taylor; Kaufman, David C.; Kaynar, A. Murat; Kellum, John A.; Kerwin, Andrew J.; Kidd, Jason; Kilic, Arman; Kim, Donghee; Knudson, M. Margaret; Koehler, Philipp; Kollef, Marin H.; Kormos, Robert L.; Košir, Roman; Kotloff, Robert M.; Kotzen, Elizabeth S.; Koulenti, Despoina; Kratzert, Wolf Benjamin; Kumar, Anand; Langness, Simone; Lee, Jin; Leisman, Daniel; Leung, Angela M.; Levin, Phillip D.; Levy, Jerrold H.; Levy, Mitchell M.; Lewandowski, David C.; Lewis, Anthony J.; Bassi, Gianluigi Li; Liebman, Scott; Linas, Stuart L.; Linefsky, Jason P.; Lipman, Jeffrey; Lipsett, Pamela A.; Lipshutz, Angela K.M.; Loftus, Tyler J.; Lopez-Magallon, Alejandro J.; Lother, Sylvain; MacIntyre, Neil R.; Magder, Sheldon; Maggiolini, Stefano; Mahajan, Aman; Maine, Rebecca; Maisch, Bernhard; Mancebo, Jordi; Mann, Henry J.; Manocha, Sanjay; Margulies, Daniel R.; Marik, Paul E.; Marini, John J.; Markan, Sandeep; Martinez-Camacho, Alvaro; Marx, William; Mayr, Florian B.; Mazariegos, George V.; McClave, Stephen A.; McGloughlin, Steven A.; McLean, Anna W.; McMichael, Ali B.V.; Meltzer, Joseph S.; Merola, Raffaele; Messina, Antonio; Micek, Scott T.; Mohammed, Subhan; Mohr, Alicia M.; Monard, Celine; Monnet, Xavier; Montford, John; Moore, Ernest E.; Moore, Frederick A.; Moore, Hunter B.; Moore, Laura J.; Moore, Peter K.; Mort, Thomas C.; Motayar, Nasim; Muñoz, Ricardo A.; Naber, Kurt G.; Nadkarni, Vinay M.; Nair, Girish B.; Namias, Nicholas; Krishna, Vinay Narasimha; Nassikas, Nicholas J.; New, Melissa L.; Nguyen-Lee, Jennifer; Niccum, David E.; Niederman, Michael S.; Niven, Alexander S.; Oddo, Mauro; Omer, Endashaw; Oostdijk, Evelien A.N.; Opal, Steven M.; Opdam, Helen I.; Otto, Catherine M.; Pannu, Sonal R.; Parrillo, Joseph E.; Pasero, Daniela; Patel, Rohit Pravin; Paterson, David L.; Pavot, Arthur; Peitzman, Andrew B.; Peluso, Lorenzo; Penoyer, Daleen Aragon; Pepe, Judith L.; Pergakis, Melissa B.; Peters, Steve G.; Phelps, Mitch A.; Picard, Fabien; Pilatz, Adrian; Piovesana, Giovanni; Pitisci, Lorenzo; Pollandt, Sebastian; Protti, Alessandro; Puyana, Juan Carlos; Puzio, Thaddeus J.; Ra, Jin H.; Raghu, Vikram K.; Ramsingh, Davinder; Ranieri, V. Marco; Reynolds, Joshua C.; Rimmelé, Thomas; Ristic, Arsen D.; Rizzo, LTC Julie A.; Robertson, Claudia S.; Robinson, Christopher P.; Robinson, Todd W.; Roche-Campo, Ferran; Rodriguez, Ryan; Romito, Bryan T.; Rosenthal, Martin D.; Rowan, Daniel J.; Rubenfeld, Gordon D.; Rubin, Lewis J.; Salgado, Juan C.; Sambin, Pauline; Sánchez-de-Toledo, Joan; Santonocito, Cristina; Sappington, Penny Lynn; Sartelli, Massimo; Savelieva, Irina; Schott, Christopher K.; Schouten, Jeroen A.; Schreiber, Martin A.; Schulman, Carl; See, Emily J.; Seese, Laura M.; Selickman, John; Sempsrott, Justin; Sethuraman, Kinjal N.; Shemie, Sam D.; Shiloh, Ariel L.; Silvis, Jennifer L.; Singer, Pierre; Singh, Sumit P.; Sreedharan, Roshni; Steinberg, Alexis; Streichenberger, Antoine; Szpilman, David; Szychowiak, Piotr; Taccone, Fabio Silvio; Tanaka, Akiko; Tanner, Colby; Tawfik, Pierre N.; Teboul, Jean-Louis; Teitelbaum, Isaac; Terragni, Pierpaolo; Thom, Stephen R.; Thompson, Ashley; Timsit, Jean-Francois; Tisherman, Samuel A.; Todd, S. Rob; Tolwani, Ashita J.; Tonetti, Tommaso; Tonon, Marta; Torres, Antoni; Toscano, Nicole C.; Tsai, Lillian L.; Turner, Cody D.; Tyndall, J. Adrian; Tzeng, Edith; Berghe, Greet Van den; van Zanten, Arthur R.H.; Vanommeslaeghe, Floris; Vanzant, Erin L.; Venkataraman, Ramesh; Verdiner, Ricardo E.; Vincent, Jean-Louis; Wagenlehner, Florian M.E.; Walker, Paul Phillip; Walley, Keith; Walter, James; Wang, Tisha; Wang, Kevin K.W.; Ward, Nicholas S.; Ware, Lorraine B.; Warrillow, Stephen; Watson, Gregory A.; Wechsler, Lawrence R.; Weissman, Charles; Wille, Keith M.; Wunderink, Richard G.; Yang, Zhihui; Yende, Sachin; Yi, Stephanie Grace; Young, Paul; Zeitler, Evan; Zhao, Frank Z.
In Textbook of Critical Care Edition: Eighth Edition. 2024:v-xx
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Academic Journal
Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L.; Dhindsa, Ryan S.; Stanley, Kate E.; Cavalleri, Gianpiero L.; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G.; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Leu, Costin; Bennett, Caitlin A.; Johns, Esther M. C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gabor; Elger, Christian E.; Bauer, Jurgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Mueller-Schlueter, Karen; Kluger, Gerhard; Hausler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F.; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggrafe, Ingo; Schankin, Christoph J.; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Barisic, Nina; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G.; King, Chontelle; Mountier, Emily; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Yis, Uluc; Topaloglu, Pinar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Ugur-Iseri, Sibel; Baykan, Betul; Salman, Baris; Haryanyan, Garen; Yucesan, Emrah; Kesim, Yesim; Ozkara, Cigdem; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T.; Pato, Carlos N.; Bromet, Evelyn J.; Carvalho, Celia Barreto; Achtyes, Eric D.; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S.; Malaspina, Dolores; Marder, Stephen R.; Medeiros, Helena; Morley, Christopher P.; Perkins, Diana O.; Sobell, Janet L.; Buckley, Peter F.; Macciardi, Fabio; Rapaport, Mark H.; Knowles, James A.; Fanous, Ayman H.; McCarroll, Steven A.; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Lowenstein, Daniel H.; Goldstein, David B.; Lerche, Holger; Berkovic, Samuel F.; Neale, Benjamin M.; Epi25 Collaborative; Genomic Psychiat Cohort GPC Consor
Academic Journal
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