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Article

Clinical whole exome sequencing in child neurology practice.

Annals of neurology - 1 Oct 2014

Srivastava Siddharth, Cohen Julie S, Vernon Hilary, Barañano Kristin, McClellan Rebecca, Jamal Leila, Naidu SakkuBai, Fatemi Ali

Abstract excerpt

OBJECTIVE: Whole exome sequencing (WES) represents a significant breakthrough in clinical genetics as a powerful tool for etiological discovery in neurodevelopmental disorders. To better characterize the genetic landscape of neurodevelopmental disorders, we analyzed patients in our pediatric neurogenetics clinic who underwent WES. METHODS: We performed a retrospective cohort study on 78 patients with various...

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PMID: 25131622
DOI: 10.1002/ana.24251

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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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