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"Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing.

Pediatric neurology - 1 Mar 2024

McNamara R Colin, Zven Sidney, Horvat David E, Veras Juvianee Estrada, Schacht John Paul

Abstract excerpt

BACKGROUND: Whole exome sequencing (WES) is commonly used for patients with nonspecific clinical features and conditions with genetic heterogeneity. However, a nondiagnostic exome does not exclude a genetic diagnosis, so history and physical examination is crucial to selecting appropriate genetic testing. CASES: We report three patients with three recognizable phenotypes: a seven-year-old female with classic Rett...

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PMID: 38168579
DOI: 10.1016/j.pediatrneurol.2023.11.017

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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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