Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

doi:10.1126/scitranslmed.3010076

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Article

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Science translational medicine - 3 Dec 2014

Soden Sarah E, Saunders Carol J, Willig Laurel K, Farrow Emily G, Smith Laurie D, Petrikin Josh E, LePichon Jean-Baptiste, Miller Neil A, Thiffault Isabelle, Dinwiddie Darrell L, Twist Greyson, Noll Aaron, Heese Bryce A, Zellmer Lee, Atherton Andrea M, Abdelmoity Ahmed T, Safina Nicole, Nyp Sarah S, Zuccarelli Britton, Larson Ingrid A, Modrcin Ann, Herd Suzanne, Creed Mitchell, Ye Zhaohui, Yuan Xuan, Brodsky Robert A, Kingsmore Stephen F

Abstract excerpt

Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) can en...

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PMID: 25473036
DOI: 10.1126/scitranslmed.3010076
PMCID: PMC4286868

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25473036-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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