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Article

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.

Clinical genetics - 1 May 2013

Hanchard Neil A, Murdock David R, Magoulas Pilar L, Bainbridge Matthew, Muzny Donna, Wu YuanQing, Wang Min, Lupski James R, Gibbs Richard A, Brown Chester W

Abstract excerpt

The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patie...

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Identifiers

PMID: 22901280
DOI: 10.1111/j.1399-0004.2012.01951.x
PMCID: PMC3926310

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22901280-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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