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Article

Ohnologs are overrepresented in pathogenic copy number mutations.

Proceedings of the National Academy of Sciences of the United States of America - 7 Jan 2014

McLysaght Aoife, Makino Takashi, Grayton Hannah M, Tropeano Maria, Mitchell Kevin J, Vassos Evangelos, Collier David A

Abstract excerpt

A number of rare copy number variants (CNVs), including both deletions and duplications, have been associated with developmental disorders, including schizophrenia, autism, intellectual disability, and epilepsy. Pathogenicity may derive from dosage sensitivity of one or more genes contained within the CNV locus. To understand pathophysiology, the specific disease-causing gene(s) within each CNV need to be...

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Source

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Identifiers

PMID: 24368850
DOI: 10.1073/pnas.1309324111
PMCID: PMC3890797

Genes

CYFIP1
NDE1
NRXN1
VIPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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