Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
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
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
Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
Wang X et al.
Molecular Medicine Reports, 2014
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
Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot.
Huang RT et al.
International Journal of Molecular Medicine, 2013
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot.
Wang J et al.
Dna and Cell Biology, 2012
[Identification of novel mutations in GATA6 gene associated with tetralogy of Fallot].
Zheng GF et al.
Zhonghua Yi Xue Za Zhi, 2012
A novel GATA6 mutation associated with congenital ventricular septal defect.
Zheng GF et al.
International Journal of Molecular Medicine, 2012
GATA transcription factors in congenital heart defects: a commentary on a novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
Kodo K et al.
Journal of Human Genetics, 2010
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
[Genetic screening for novel GATA4 mutations associated with congenital atrial septal defect].
Wang J et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2010
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