High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

作者：Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan V. Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane oumou Diallo, Jean Monlong, Maxime Cadieux‐Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, David R FitzPatrick, Alan Donaldson, Natalie L.E. Canham, Edward M. Blair, Bronwyn A. Kerr, Andrew E. Fry, Rhys Huw Thomas, Joss Shelagh, Jane A. Hurst, Helen K. Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis‐Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten‐Janssen, Erik‐Jan Kamsteeg, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Alain Verloès, Katrin Õunap, Monica Hsiung Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson L. Ware, Dean L. Jones, Yu‐Chi Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stöckler, Anna Lehman, Boris Keren, Marie‐Christine Nouguès, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renée‐Myriam Boucher, Émilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel Frank Berkovic, Lynette Grant Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G.A. Lafrenière, Simon Girard, Saadet Mercimek‐Mahmutoglu, Cyrus G. Boelman, Guy Armand Rouleau, Ingrid Eileen Scheffer, Heather C. Mefford, Danielle Molinari Andrade, Elsa Rossignol, Berge Arakel Minassian, Jacques L. Michaud · 发表于：The American Journal of Human Genetics · 年份：2017 · DOI：10.1016/j.ajhg.2017.09.008 · 被引用次数：466 · 研究领域：Genomics and Rare Diseases、Genetics and Neurodevelopmental Disorders、Genomic variations and chromosomal abnormalities