Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
在重症监护病房中,外显子组测序在婴儿中的应用:严重单基因疾病的鉴定及其对医疗管理的影响
期刊:Jama Pediatrics
影响因子:18
doi:10.1001/jamapediatrics.2017.3438
Meng, Linyan; Pammi, Mohan; Saronwala, Anirudh; Magoulas, Pilar; Ghazi, Andrew Ray; Vetrini, Francesco; Zhang, Jing; He, Weimin; Dharmadhikari, Avinash V; Qu, Chunjing; Ward, Patricia; Braxton, Alicia; Narayanan, Swetha; Ge, Xiaoyan; Tokita, Mari J; Santiago-Sim, Teresa; Dai, Hongzheng; Chiang, Theodore; Smith, Hadley; Azamian, Mahshid S; Robak, Laurie; Bostwick, Bret L; Schaaf, Christian P; Potocki, Lorraine; Scaglia, Fernando; Bacino, Carlos A; Hanchard, Neil A; Wangler, Michael F; Scott, Daryl; Brown, Chester; Hu, Jianhong; Belmont, John W; Burrage, Lindsay C; Graham, Brett H; Sutton, Vernon Reid; Craigen, William J; Plon, Sharon E; Lupski, James R; Beaudet, Arthur L; Gibbs, Richard A; Muzny, Donna M; Miller, Marcus J; Wang, Xia; Leduc, Magalie S; Xiao, Rui; Liu, Pengfei; Shaw, Chad; Walkiewicz, Magdalena; Bi, Weimin; Xia, Fan; Lee, Brendan; Eng, Christine M; Yang, Yaping; Lalani, Seema R