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Article

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

PLoS genetics - 1 Jan 2012

Silversides Candice K, Lionel Anath C, Costain Gregory, Merico Daniele, Migita Ohsuke, Liu Ben, Yuen Tracy, Rickaby Jessica, Thiruvahindrapuram Bhooma, Marshall Christian R, Scherer Stephen W, Bassett Anne S

Abstract excerpt

Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, but to date little is known about the role of CNVs in the etiology of TOF. Using high-resolution genome-wide microarrays and stringent calling methods, we investigated rare CNVs in a...

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Identifiers

PMID: 22912587
DOI: 10.1371/journal.pgen.1002843
PMCID: PMC3415418

Genes

PLXNA2

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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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