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Article

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.

Cold Spring Harbor perspectives in medicine - 18 Dec 2015

Smith Laurie D, Willig Laurel K, Kingsmore Stephen F

Abstract excerpt

As the ability to identify the contribution of genetic background to human disease continues to advance, there is no discipline of medicine in which this may have a larger impact than in the care of the ill neonate. Newborns with congenital malformations, syndromic conditions, and inherited disorders often undergo an extensive, expensive, and long diagnostic process, often without a final diagnosis resulting in...

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Identifiers

PMID: 26684335
DOI: 10.1101/cshperspect.a023168
PMCID: PMC4743073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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