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1Academic JournalUltra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
المؤلفون: Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG, Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Mueller-Schlueter, K, Kluger, G, Hausler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H, Borggrafe, I, Schankin, CJ, Mayer, T, Korinthenberg, R, Brockmann, K, Dennig, D, Madeleyn, R, Kalviainen, R, Auvinen, P, Saarela, A, Linnankivi, T, Lehesjoki, A-E, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Barisic, N, Delanty, N, Doherty, CP, Shukralla, A, McCormack, M, El-Naggar, H, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Zara, F, Iacomino, M, Madia, F, Vari, MS, Mancardi, MM, Salpietro, V, Bisulli, F, Tinuper, P, Licchetta, L, Pippucci, T, Stipa, C, Minardi, R, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Marini, C, Suzuki, T, Inoue, Y, Yamakawa, K, Tumiene, B, Sadleir, LG, King, C, Mountier, E, Caglayan, SH, Arslan, M, Yapici, Z, Yis, U, Topaloglu, P, Kara, B, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Ugur-Iseri, S, Baykan, B, Salman, B, Haryanyan, G, Yucesan, E, Kesim, Y, Ozkara, C, Poduri, A, Shiedley, BR, Shain, C, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Khankhanian, P, Helbig, KL, Ellis, CA, Spalletta, G, Piras, F, Gili, T, Ciullo, V, Reif, A, McQuillin, A, Bass, N, McIntosh, A, Blackwood, D, Johnstone, M, Palotie, A, Pato, MT, Pato, CN, Bromet, EJ, Carvalho, CB, Achtyes, ED, Azevedo, MH, Kotov, R, Lehrer, DS, Malaspina, D, Marder, SR, Medeiros, H, Morley, CP, Perkins, DO, Sobell, JL, Buckley, PF, Macciardi, F, Rapaport, MH, Knowles, JA, Fanous, AH, McCarroll, SA, Gupta, N, Gabriel, SB, Daly, MJ, Lander, ES, Lowenstein, DH, Goldstein, DB, Lerche, H, Berkovic, SF, Neale, BM
المصدر: American Journal of Human Genetics , 105 (2) pp. 267-282. (2019)
مصطلحات موضوعية: epilepsy, seizures, epileptic encephalopathy, exome, sequencing, burden analysis
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10081126/1/Sisodiya_AAM_FINAL_PROOF_EPI25_WES_ms_text.pdf; https://discovery.ucl.ac.uk/id/eprint/10081126/
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2Academic JournalUltra-rare genetic variation in the epilepsies: A whole-exome sequencing study of 17,606 individuals
المؤلفون: Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG, Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O’Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Štěrbová, K, Vlčková, M, Sedláčková, L, Laššuthová, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, Van Baalen, A, Von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Müller-Schlüter, K, Kluger, G, Häusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H, Borggräfe, I, Schankin, CJ, Mayer, T, Korinthenberg, R, Brockmann, K, Dennig, D, Madeleyn, R, Kälviäinen, R, Auvinen, P, Saarela, A, Linnankivi, T, Lehesjoki, A-E, Rees, MI, Chung, S-K, Pickrell, WO, Powell, R, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Barišić, N, Delanty, N, Doherty, CP, Shukralla, A, McCormack, M, El-Naggar, H, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Zara, F, Iacomino, M, Madia, F, Vari, MS, Mancardi, MM, Salpietro, V, Bisulli, F, Tinuper, P, Licchetta, L, Pippucci, T, Stipa, C, Minardi, R, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Marini, C, Suzuki, T, Inoue, Y, Yamakawa, K, Tumiene, B, Sadleir, LG, King, C, Mountier, E, Caglayan, SH, Arslan, M, Yapıcı, Z, Yis, U, Topaloglu, P, Kara, B, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Uğur-İşeri, S, Baykan, B, Salman, B, Haryanyan, G, Yücesan, E, Kesim, Y, Özkara, Ç, Poduri, A, Shiedley, BR, Shain, C, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, RI, Devinsky, O, Hegde, M, Khankhanian, P, Helbig, KL, Ellis, CA, Spalletta, G, Piras, F, Gili, T, Ciullo, V, Reif, A, McQuillin, A, Bass, N, McIntosh, A, Blackwood, D, Johnstone, M, Palotie, A, Pato, MT, Pato, CN, Bromet, EJ, Carvalho, CB, Achtyes, ED, Azevedo, MH, Kotov, R, Lehrer, DS, Malaspina, D, Marder, SR, Medeiros, H, Morley, CP, Perkins, DO, Sobell, JL, Buckley, PF, Macciardi, F, Rapaport, MH, Knowles, JA, Fanous, AH, McCarroll, SA, Gupta, N, Gabriel, SB, Daly, MJ, Lander, ES, Lowenstein, DH, Goldstein, DB, Lerche, H, Berkovic, SF, Neale, BM
المساهمون: Wellcome Trust, Department of Health, Institute of Neurology, UCL, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, Medical Research Council (MRC)
المصدر: 282 ; 267
مصطلحات موضوعية: Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences
Relation: The American Journal of Human Genetics; http://hdl.handle.net/10044/1/72575; https://doi.org/10.1016/j.ajhg.2019.05.020; 066056/Z/01/Z; PHGX16A; N/A; RDA03; RD610; 279062; P35076
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3Academic JournalUltra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
المؤلفون: Feng, YCA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG, Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Štěrbová, K, Vlčková, M, Sedláčková, L, Laššuthová, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Müller-Schlüter, K, Kluger, G, Häusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H, Borggräfe, I
Relation: Collapse authors list. Feng, YCA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N et al (show 90 more authors) , Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG orcid:0000-0002-6861-8806 , Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Štěrbová, K, Vlčková, M, Sedláčková, L, Laššuthová, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Müller-Schlüter, K, Kluger, G, Häusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H and Borggräfe, I (2019) Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. American Journal of Human Genetics, 105 (2). pp. 267-282.
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