Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
外显子组和基因组测序在疾病严重程度指导下对神经发育障碍诊断的有效性
期刊:Science Translational Medicine
影响因子:14.6
doi:10.1126/scitranslmed.3010076
Soden, Sarah E; Saunders, Carol J; Willig, Laurel K; Farrow, Emily G; Smith, Laurie D; Petrikin, Josh E; LePichon, Jean-Baptiste; Miller, Neil A; Thiffault, Isabelle; Dinwiddie, Darrell L; Twist, Greyson; Noll, Aaron; Heese, Bryce A; Zellmer, Lee; Atherton, Andrea M; Abdelmoity, Ahmed T; Safina, Nicole; Nyp, Sarah S; Zuccarelli, Britton; Larson, Ingrid A; Modrcin, Ann; Herd, Suzanne; Creed, Mitchell; Ye, Zhaohui; Yuan, Xuan; Brodsky, Robert A; Kingsmore, Stephen F
