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Article

Use of Exome Sequencing for Infants in Intensive Care Units

3 Oct 2017

Abstract excerpt

Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants. Design, Setting, and Participants: Clinical exome sequencing was performed for 278 unrelated infants within...

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PMID: 28973083
DOI: 10.1001/jamapediatrics.2017.3438

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