Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

IMPORTANCE: While congenital malformations and genetic diseases are a leading cause of early infant death, the contribution of single-gene disorders in this group is undetermined. OBJECTIVE: To determine the diagnostic yield and utility of clinical exome sequencing in critically ill infants. DESIGN,...

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Publicado no:JAMA Pediatr
Main Authors: 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, Yang, Yaping, Lalani, Seema R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6359927/
https://ncbi.nlm.nih.gov/pubmed/28973083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamapediatrics.2017.3438
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