Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
对不明原因癫痫婴儿进行非诊断性短读长基因组测序后进行全面重新分析的诊断率
期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000214645
Nguyen, Jimmy N H; Lachgar-Ruiz, Maria; Higginbotham, Edward J; Coleman, Matthew; Coleman, John; Shao, Wanqing; Scotchman, Elizabeth; Pritchard, Ashley J; Bell, Katrina M; Chitty, Lyn S; Christodoulou, John; De Fazio, Paul; Deshwar, Ashish R; Eltze, Christin; Griffiths, Anna J S; Hassell, Jane; Jain, Puneet; Kaliakatsos, Marios; Liang, Nicole S Y; Lombard, Patrick; Marshall, Christian R; Marx, Catherine; McRae, Lyndsey; Mulhern, Sarah; Paternoster, Ben; Perez Caballero, Ana; Pipko, Neta; Sidhu, Jashanpreet; Smith, Lacey; Stark, Zornitza; Trost, Brett; Wakeling, Emma; White, Susan M; Yoong, Michael; Chandler, Natalie J; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Poduri, Annapurna; Howell, Katherine B; Stephenson, Sarah E M; McTague, Amy; Costain, Gregory; D'Gama, Alissa M