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Article

Human gene copy number spectra analysis in congenital heart malformations.

Physiological genomics - 1 May 2012

Tomita-Mitchell Aoy, Mahnke Donna K, Struble Craig A, Tuffnell Maureen E, Stamm Karl D, Hidestrand Mats, Harris Susan E, Goetsch Mary A, Simpson Pippa M, Bick David P, Broeckel Ulrich, Pelech Andrew N, Tweddell James S, Mitchell Michael E

Abstract excerpt

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in...

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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: 22318994
DOI: 10.1152/physiolgenomics.00013.2012
PMCID: PMC3426426

Genes

ACP6
ATRX
BCL9
BCOR
CRKL
ELN
FKBP6
FLNA
FMO5
GATA4
GATA6
GJA5
GPC3
HRAS
MID1
PRKAB2
RUNX1
TBX1
ZIC3

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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