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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

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第一作者: Allen, Andrew S.
作者: Allen, Andrew S. [1] ; Bridgers, Joshua [2] ; Cossette, Patrick [3] ; Goldstein, David B. [4] ; Heinzen, Erin L. [5] ; Jiang, Yu [6] ; Johnson, Michael R. [7] ; Marson, Anthony G. [8] ; Mefford, Heather C. [9] ; O'Brien, Terence J. [10] ; Petrou, Steven [11] ; Petrovski, Slave [12] ; Ren, Zhong [13] ; Wang, Quanli [14] ; Balling, Rudi [15] ; Barisic, Nina [16] ; Baulac, Stephanie [17] ; Caglayan, Hande [18] ; Craiu, Dana [19] ; De Jonghe, Peter [20] ; Depienne, Christel [21] ; Guerrini, Renzo [22] ; Helbig, Ingo [23] ; Hjalgrim, Helle [24] ; Hoffman-Zacharska, Dorota [25] ; Jaehn, Johanna [26] ; Klein, Karl Martin [27] ; Koeleman, Bobby [28] ; Komarek, Vladimir [29] ; Krause, Roland [30] ; Leguern, Eric [31] ; Lehesjoki, Anna-Elina [32] ; Lemke, Johannes R. [33] ; Lerche, Holger [34] ; Linnankivi, Tarja [35] ; Marini, Carla [36] ; May, Patrick [37] ; Moller, Rikke S. [38] ; Muhle, Hiltrud [39] ; Pal, Deb [40] ; Palotie, Aarno [41] ; Rosenow, Felix [42] ; Selmer, Kaja [43] ; Serratosa, Jose M. [44] ; Sisodiya, Sanjay [45] ; Stephani, Ulrich [46] ; Sterbova, Katalin [47] ; Striano, Pasquale [48] ; Suls, Arvid [49] ; Talvik, Tiina [50] ; von Spiczak, Sarah [51] ; Weber, Yvonne [52] ; Weckhuysen, Sarah [53] ; Zara, Federico [54] ; Abou-Khalil, Bassel [55] ; Alldredge, Brian K. [56] ; Amrom, Dina [57] ; Andermann, Eva [58] ; Andermann, Frederick [59] ; Bautista, Jocelyn F. [60] ; Berkovic, Samuel F. [61] ; Bluvstein, Judith [62] ; Cascino, Gregory D. [63] ; Consalvo, Damian [64] ; Crumrine, Patricia [65] ; Devinsky, Orrin [66] ; Dlugos, Dennis [67] ; Epstein, Michael P. [68] ; Fiol, Miguel E. [69] ; Fountain, Nathan B. [70] ; French, Jacqueline [71] ; Friedman, Daniel [72] ; Glauser, Tracy [73] ; Haas, Kevin [74] ; Haut, Sheryl R. [75] ; Hayward, Jean [76] ; Joshi, Sucheta [77] ; Kanner, Andres ; Kirsch, Heidi E. ; Kossoff, Eric H. ; Kuperman, Rachel ; Kuzniecky, Ruben ; Lowenstein, Daniel H. ; McGuire, Shannon M. ; Motika, Paul V. ; Novotny, Edward J. ; Ottman, Ruth ; Paolicchi, Juliann M. ; Parent, Jack ; Park, Kristen ; Poduri, Annapurna ; Scheffer, Ingrid E. ; Shellhaas, Renee A. ; Sherr, Elliott ; Sirven, Joseph ; Smith, Michael C. ; Sullivan, Joseph ; Thio, Liu Lin ; Venkat, Anu ; Vining, Eileen P. G. ; Von Allmen, Gretchen K. ; Weisenberg, Judith L. ; Widdess-Walsh, Peter ; Winawer, Melodie R.
作者单位: Johns Hopkins Univ Hosp, Dept Neurol, Baltimore, MD 21287 USA [1] UPMC Univ Paris 06, Sorbonne Univ, UM 75, Paris, France [2] Univ Liverpool, Clin Sci Ctr, Dept Mol & Clin Pharmacol, Liverpool, Merseyside, England [3] Johns Hopkins Univ Hosp, Pediat Neurol Residency Program, Child Neurol, Neurol & Pediat, Baltimore [4] Univ Pittsburgh, Sch Med, Childrens Hosp Pittsburgh UPMC, Pediat,Med Epilepsy Program, Pittsburgh [5] Royal Melbourne Hosp, Dept Med & Neurol, Parkville, Vic, Australia [6] Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ, Canada [7] Second Med Fac, Dept Child Neurol, Prague, Czech Republic [8] NYU, Sch Med, St Barnabas Epilepsy Ctr, New York, NY USA [9] Univ Kiel, Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany [10] Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands [11] Univ Michigan, Pediat & Communicable Dis, Ann Arbor, MI 48109 USA [12] Univ Genoa, Pediat Neurol & Muscular Dis Unit, Lab Neurogenet, Dept Neurosci, Genoa, Italy [13] Montreal Neurol Hosp & Inst, Epilepsy Res Grp, Montreal, PQ, Canada [14] Univ Texas Houston, Sch Med, Dept Pediat, Div Child & Adolescent Neurol, Houston, TX USA [15] Duke Clin Res Inst, Dept Biostat & Bioinformat, Durham, NC USA [16] Imperial Coll London, Ctr Clin Translat, Div Brain Sci, London, England [17] Weill Cornell Med Ctr, New York, NY USA [18] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Dept Neurol & Pediat, Philadelphia, PA [19] NYU, Comprehens Epilepsy Ctr, New York, NY USA [20] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA [21] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA [22] Ramos Mejia Hosp, Neurol Div, Epilepsy Ctr, Buenos Aires, DF, Argentina [23] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany [24] Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA USA [25] Fdn Jimenez Diaz Univ Hosp, Inst Med Res, Epilepsy Unit, Dept Neurol, Madrid, Spain [26] Univ Leipzig Hosp & Clin, Inst Human Genet, Leipzig, Germany [27] NYU, Sch Med, New York, NY USA [28] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA [29] Univ Luxembourg, Luxembourg Ctr Syst Biomed, Luxembourg, Luxembourg [30] Columbia Univ, GH Sergievsky Ctr, Dept Neurol, New York, NY USA [31] Univ Helsinki, Mol Neurol & Neurosci Ctr, Res Programs Unit, Folkhalsan Inst Genet, Helsinki [32] Univ Colorado, Sch Med, Aurora, CO USA [33] Kaiser Permanente Grp, Oakland, CA USA [34] Mayo Clin, Dept Neurol, Scottsdale, AZ USA [35] Univ Virginia, FE Dreifuss Comprehens Epilepsy Program, Charlottesville, VA USA [36] Univ Genoa, Pediat Neurol & Muscular Dis Unit, Dept Neurosci Rehabil Ophthalmol Genet Maternal & [37] Univ Strasbourg, Dept Med Translationnelle & Neurogenet, IGBMC, CNRS UMR 7104,INSERM U964, Illkirch [38] Washington Univ, Sch Med, Dept Neurol, Div Pediat Neurol, St Louis, MO 63110 USA [39] Kings Coll London, Inst Psychiat, Dept Clin Neurosci, London, England [40] Vanderbilt Univ, Med Ctr, Dept Neurol, 221 Kirkland Hall, Nashville, TN 37235 USA [41] Univ Zagreb, Med Sch, Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb, Croatia [42] Childrens Hosp Epilepsy Ctr New Orleans, Clin Neurol, New Orleans, LA USA [43] Beaumont Hosp & Royal Coll Surg, Dept Neurol, Dublin, Ireland [44] Rush Univ, Med Ctr, Rush Epilepsy Ctr, Dept Neurol Sci, Chicago, IL 60612 USA [45] Vanderbilt Univ, Med Ctr, Nashville, TN USA [46] Univ Helsinki, Childrens Hosp, Pediat Neurol, Helsinki, Finland [47] VIB, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium [48] Univ Tartu, Dept Pediat, Tartu, Estonia [49] Goethe Univ Frankfurt, Ctr Neurol & Neurosurg, Epilepsy Ctr Rhine Main, Frankfurt, Germany [50] Montefiore Med Ctr, Comprehens Epilepsy Ctr, 111 E 210th St, Bronx, NY 10467 USA [51] UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England [52] Danish Epilepsy Ctr, Dianalund, Denmark [53] Univ Florence, Childrens Hosp A Meyer, Pediat Neurol Unit & Labs, Florence, Italy [54] Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA [55] Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Dept Med, Heidelberg, Vic, Australia [56] Univ Michigan, Pediat Neurol, Ann Arbor, MI 48109 USA [57] Oregon Hlth & Sci Univ, Comprehens Epilepsy Ctr, Portland, OR 97201 USA [58] Carol Davila Univ Med, Pediat Neurol Clin 2, Dept Neurol Pediat Neurol Psychiat Neurosurg [59] Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA [60] Cleveland Clin Lerner Coll Med, Dept Neurol, Cleveland, OH USA [61] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, Cambs, England [62] Columbia Univ, GH Sergievsky Ctr, Dept Epidemiol & Neurol, New York, NY USA [63] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey [64] Univ Minnesota, Sch Med, Dept Neurol, Epilepsy Care Ctr, Minneapolis, MN 55455 USA [65] Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA [66] Mayo Clin, Div Epilepsy, Rochester, MN USA [67] Univ Washington, Sch Med, Seattle Childrens Hosp, Dept Neurol, Seattle, WA USA [68] UCSF Sch Pharm, Dept Clin Pharm, San Francisco, CA USA [69] NYU, Sch Med, Dept Neurol, New York, NY USA [70] Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland [71] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway [72] Univ Montreal, CHUM Hop Notre Dam, Dept Neurosci, Montreal, PQ, Canada [73] Childrens Hosp & Res Ctr Oakland, Epilepsy Program, Oakland, CA USA [74] Univ Miami, Miller Sch Med, Comprehens Epilepsy Ctr, Dept Neurol, Miami, FL 33136 USA [75] St Peters Univ Hosp, Dept Pediat, New Brunswick, NJ USA [76] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA [77]
发布时间 2018-01-11
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European journal of human genetics: EJHG

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