The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

OBJECTIVES: To evaluate the clinical utility of rapid exome sequencing (rES) in critically ill children with likely genetic disease using a standardized process at a single institution. To provide evidence that rES with should become standard of care for this patient population. STUDY DESIGN: We imp...

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Publicado no:J Pediatr
Main Authors: Freed, Amanda S., Candadai, Sarah V. Clowes, Sikes, Megan C., Thies, Jenny, Byers, Heather M., Dines, Jennifer N., Ndugga-Kabuye, Mesaki Kenneth, Smith, Mallory B., Fogus, Katie, Mefford, Heather C., Lam, Christina, Adam, Margaret P., Sun, Angela, McGuire, John K., DiGeronimo, Robert, Dipple, Katrina M., Deutsch, Gail H., Billimoria, Zeenia C., Bennett, James T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7736066/
https://ncbi.nlm.nih.gov/pubmed/32553838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2020.06.020
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