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Article

Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.

Nature genetics - 1 Mar 2024

Xiao Feng, Zhang Xiaoran, Morton Sarah U, Kim Seong Won, Fan Youfei, Gorham Joshua M, Zhang Huan, Berkson Paul J, Mazumdar Neil, Cao Yangpo, Chen Jian, Hagen Jacob, Liu Xujie, Zhou Pingzhu, Richter Felix, Shen Yufeng, Ward Tarsha, Gelb Bruce D, Seidman Jonathan G, Seidman Christine E, Pu William T

Abstract excerpt

Rare coding mutations cause ∼45% of congenital heart disease (CHD). Noncoding mutations that perturb cis-regulatory elements (CREs) likely contribute to the remaining cases, but their identification has been problematic. Using a lentiviral massively parallel reporter assay (lentiMPRA) in human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs), we functionally evaluated 6,590 noncoding de novo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38378865
DOI: 10.1038/s41588-024-01669-y
PMCID: PMC11218660

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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