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Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome.

Circulation. Genomic and precision medicine - 1 Feb 2023

Theis Jeanne L, Shatila Sarah-Dana H, Fogarty Zachary C, Bamlet William R, Olson Timothy M

Abstract excerpt

BACKGROUND: Deciphering hypoplastic left heart syndrome (HLHS) pathogenesis is confounded by its genetic heterogeneity and oligogenic underpinnings. METHODS: Whole genome sequences were analyzed by 3 independent strategies to identify HLHS gene candidates, ranked by variant, gene, and disease-level metrics. RESULTS: First, a genome-wide association study of 174 cases and 853 controls revealed suggestive...

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PMID: 36580305
DOI: 10.1161/CIRCGEN.122.003761

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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