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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Vydáno v:J Pediatr
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup: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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