Associated Papers
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 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
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A et al.
Human Mutation, 2020
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A et al.
Elife, 2020
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
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Yu L et al.
Human Molecular Genetics, 2015
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L et al.
Journal of Medical Genetics, 2014
Select a paper to view details