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Article

An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.

Human molecular genetics - 15 Jul 2013

Cheng Ye, Quinn Jeffrey Francis, Weiss Lauren Anne

Abstract excerpt

To date, genome-wide single nucleotide polymorphism (SNP) and copy number variant (CNV) association studies of autism spectrum disorders (ASDs) have led to promising signals but not to easily interpretable or translatable results. Our own genome-wide association study (GWAS) showed significant association to an intergenic SNP near Semaphorin 5A (SEMA5A) and provided evidence for reduced expression of the same...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23575222
DOI: 10.1093/hmg/ddt150
PMCID: PMC3690972

Genes

AUTS2
CADM1
CDH8
FOXP1
KIRREL3
MACROD2
MAST4
MBD5
MCPH1
RELN

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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