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Article

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.

European journal of human genetics : EJHG - 1 Oct 2015

Simpson Nuala H, Ceroni Fabiola, Reader Rose H, Covill Laura E, Knight Julian C, Hennessy Elizabeth R, Bolton Patrick F, Conti-Ramsden Gina, O'Hare Anne, Baird Gillian, Fisher Simon E, Newbury Dianne F

Abstract excerpt

An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an increased CNV burden in terms of the average number of events (11.28 vs 10.01, empirical P=0.003), the total length of CNVs (717 vs 513 Kb, empirical P=0.0001), the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25585696
DOI: 10.1038/ejhg.2014.296
PMCID: PMC4592089

Genes

ACTR2

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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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