Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
评估快速基因组测序在婴儿癫痫诊断中的可行性、诊断率和临床应用价值(Gene-STEPS):一项国际多中心试点队列研究
期刊:Lancet Neurology
影响因子:45.5
doi:10.1016/S1474-4422(23)00246-6
D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; Curtis, Meredith; Higginbotham, Edward J; Holland, Jonathon; Khan, Tayyaba; Koh, Julia; Liang, Nicole S Y; McRae, Lyndsey; Nesbitt, Sarah E; Oby, Brandon T; Paternoster, Ben; Patton, Alistair; Rose, Graham; Scotchman, Elizabeth; Valentine, Rozalia; Wiltrout, Kimberly N; Hayeems, Robin Z; Jain, Puneet; Lunke, Sebastian; Marshall, Christian R; Rockowitz, Shira; Sebire, Neil J; Stark, Zornitza; White, Susan M; Chitty, Lyn S; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Costain, Gregory; Poduri, Annapurna; Howell, Katherine B; McTague, Amy