Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

BACKGROUND: Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute clinical management. We used rapid whole-genome sequencing (...

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Publicado en:Lancet Respir Med
Autores principales: Willig, Laurel K, Petrikin, Josh E, Smith, Laurie D, Saunders, Carol J, Thiffault, Isabelle, Miller, Neil A, Soden, Sarah E, Cakici, Julie A, Herd, Suzanne M, Twist, Greyson, Noll, Aaron, Creed, Mitchell, Alba, Patria M, Carpenter, Shannon L, Clements, Mark A, Fischer, Ryan T, Hays, J Allyson, Kilbride, Howard, McDonough, Ryan J, Rosterman, Jamie L, Tsai, Sarah L, Zellmer, Lee, Farrow, Emily G, Kingsmore, Stephen F
Formato: Artigo
Lenguaje:Inglês
Publicado: 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4479194/
https://ncbi.nlm.nih.gov/pubmed/25937001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S2213-2600(15)00139-3
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