Associated Papers
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
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
Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation.
Doñate Puertas R et al.
Biomed Research International, 2018
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.
Suzuki S et al.
American Journal of Medical Genetics. Part A, 2014
Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.
Kodo K et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2012
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