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Article

Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease.

Journal of the American Heart Association - 18 Mar 2025

Penaloza Jacqueline S, Moreland Blythe, Gaither Jeffrey B, Landis Benjamin J, Ware Stephanie M, McBride Kim L, White Peter

Abstract excerpt

BACKGROUND: Copy number variants (CNVs) contribute to 3% to 10% of isolated congenital heart disease (CHD) cases, yet their pathogenic roles remain unclear. Diagnostic efforts have focused on protein-coding genes, largely overlooking long noncoding RNAs (lncRNAs), which play key roles in development and disease. METHODS AND RESULTS: We systematically analyzed lncRNAs overlapping clinically validated CNVs in 743...

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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: 40079339
DOI: 10.1161/JAHA.124.039177
PMCID: PMC12132622

Genes

STK32C
TBX20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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