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Article

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

American journal of human genetics - 3 Dec 2015

Guo Tingwei, Chung Jonathan H, Wang Tao, McDonald-McGinn Donna M, Kates Wendy R, Hawuła Wanda, Coleman Karlene, Zackai Elaine, Emanuel Beverly S, Morrow Bernice E

Abstract excerpt

We performed whole exome sequence (WES) to identify genetic modifiers on 184 individuals with 22q11.2 deletion syndrome (22q11DS), of whom 89 case subjects had severe congenital heart disease (CHD) and 95 control subjects had normal hearts. Three genes including JMJD1C (jumonji domain containing 1C), RREB1 (Ras responsive element binding protein 1), and SEC24C (SEC24 family member C) had rare (MAF < 0.001)...

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Identifiers

PMID: 26608785
DOI: 10.1016/j.ajhg.2015.10.013
PMCID: PMC4678435

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MAF

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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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