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Article

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.

G3 (Bethesda, Md.) - 1 Dec 2012

Prasad Aparna, Merico Daniele, Thiruvahindrapuram Bhooma, Wei John, Lionel Anath C, Sato Daisuke, Rickaby Jessica, Lu Chao, Szatmari Peter, Roberts Wendy, Fernandez Bridget A, Marshall Christian R, Hatchwell Eli, Eis Peggy S, Scherer Stephen W

Abstract excerpt

The identification of rare inherited and de novo copy number variations (CNVs) in human subjects has proven a productive approach to highlight risk genes for autism spectrum disorder (ASD). A variety of microarrays are available to detect CNVs, including single-nucleotide polymorphism (SNP) arrays and comparative genomic hybridization (CGH) arrays. Here, we examine a cohort of 696 unrelated ASD cases using a...

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Share to Child
Share to Child Development Disorders, Pervasive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

Share to Genetic Loci

Share to Genome, Human

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 23275889
DOI: 10.1534/g3.112.004689
PMCID: PMC3516488

Genes

DPYD
CIB2
DAPP1
GPHN
GRM8
NRXN1
SAE1
TYMP
UPB1
UPP1

Provenance

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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