Associated Papers
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.
Bruenger CMH et al.
European Journal of Human Genetics : Ejhg, 2025
40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.
Williams SG et al.
Journal of Human Genetics, 2022
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A et al.
Elife, 2020
33054971 (PubMed )
Supplement: elife-53278-supp1.xlsx › 1B._Unique___Recurrent_Variants
From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.
Whitcomb J et al.
Iubmb Life, 2020
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škorić-Milosavljević D et al.
American Journal of Medical Genetics. Part A, 2019
Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.
Zhang E et al.
Gene, 2018
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