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Article

Forging links between human mental retardation-associated CNVs and mouse gene knockout models.

PLoS genetics - 1 Jun 2009

Webber Caleb, Hehir-Kwa Jayne Y, Nguyen Duc-Quang, de Vries Bert B A, Veltman Joris A, Ponting Chris P

Abstract excerpt

Rare copy number variants (CNVs) are frequently associated with common neurological disorders such as mental retardation (MR; learning disability), autism, and schizophrenia. CNV screening in clinical practice is limited because pathological CNVs cannot be distinguished routinely from benign CNVs, and because genes underlying patients' phenotypes remain largely unknown. Here, we present a novel, statistically...

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Identifiers

PMID: 19557186
DOI: 10.1371/journal.pgen.1000531
PMCID: PMC2694283

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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