Associated Papers
Comprehensive in silico analysis of single nucleotide polymorphism and molecular dynamics simulation of human GATA6 protein in ventricular septal defect.
Hidayat T et al.
Narra J, 2024
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 Regulates Aortic Valve Remodeling, and Its Haploinsufficiency Leads to Right-Left Type Bicuspid Aortic Valve.
Gharibeh L et al.
Circulation, 2018
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Ellard S et al.
Diabetologia, 2013
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
De Franco E et al.
Diabetes, 2013
23223019 (PubMed )
Supplement: supp_db12-0885_DB120885SupplementaryData.pdf
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