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Article

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.

International journal of cardiology - 1 Feb 2016

Costain Gregory, Lionel Anath C, Ogura Lucas, Marshall Christian R, Scherer Stephen W, Silversides Candice K, Bassett Anne S

Abstract excerpt

BACKGROUND: Transposition of the great arteries (TGA) is an uncommon but severe congenital heart malformation of unknown etiology. Rare copy number variations (CNVs) have been implicated in other, more common conotruncal heart defects like tetralogy of Fallot (TOF), but there are as yet no CNV studies dedicated to TGA. METHODS: Using high-resolution genome-wide microarrays and rigorous methods, we investigated...

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Source

Identifiers

PMID: 26655555
DOI: 10.1016/j.ijcard.2015.11.127

Genes

ACKR3
IFT57
ITGB8
SOX18
ULK1

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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