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Article

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element.

Circulation. Genomic and precision medicine - 1 Apr 2026

Kim Seong Won, Parfenov Michael, Rodriguez-Murillo Laura, Conner David A, Sharma Arun, Peter Inga, Xiao Feng, Layton Olivia, Tai Angela, Ward Tarsha, Wasson Lauren K, Gorham Joshua M, Mazaika Erica, Lagomarsino Valentina N, Young-Pearse Tracy L, Goldmuntz Elizabeth, Wakimoto Hiroko, Agopian A J, McKean David M, DePalma Steven R, Pu William T, Seidman Christine E, Gelb Bruce D, Seidman Jonathan G

Abstract excerpt

BACKGROUND: Atrial septal defects (ASDs) are a prevalent type of congenital heart disease. Previous GWAS (Genome-Wide Association Studies) have identified common variants associated with ASDs, though their mechanisms remain unknown. We aimed to expand insights into the architecture of common variants associated with ASD risk and elucidate functional mechanisms. METHODS: We conducted a GWAS using isolated ASD...

Topics

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CCCTC-Binding Factor
Chromosomes, Human, Pair 3
Genome-Wide Association Study
Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Induced Pluripotent Stem Cells

Myocytes, Cardiac

Receptors, Immunologic

Roundabout Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41693552
DOI: 10.1161/CIRCGEN.124.004918
PMCID: PMC13034621

Genes

ROBO2
CTCF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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