![Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1]()
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Carvill, Gemma L; Heavin, Sinéad B; Yendle, Simone C; McMahon, Jacinta M; O'Roak, Brian J; Cook, Joseph; Khan, Adiba; Dorschner, Michael O; Weaver, Molly; Calvert, Sophie; Malone, Stephen; Wallace, Geoffrey; Stanley, Thorsten; Bye, Ann M E; Bleasel, Andrew; Howell, Katherine B; Kivity, Sara; Mackay, Mark T; Rodriguez-Casero, Victoria; Webster, Richard; Korczyn, Amos; Afawi, Zaid; Zelnick, Nathanel; Lerman-Sagie, Tally; Lev, Dorit; Møller, Rikke S; Gill, Deepak; Andrade, Danielle M; Freeman, Jeremy L; Sadleir, Lynette G; Shendure, Jay; Berkovic, Samuel F; Scheffer, Ingrid E; Mefford, Heather C · Nature Genetics · 2013