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
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Ramgir SS et al.
Journal of Obstetrics and Gynaecology of India, 2024
Somatic GATA4 mutation contributes to tetralogy of Fallot.
Abhinav P et al.
Experimental and Therapeutic Medicine, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
High-risk genes involved in common septal defects of congenital heart disease.
Chaithra S et al.
Gene, 2022
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
van den Bergen JA et al.
Molecular Genetics & Genomic Medicine, 2020
Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect.
Zhao Z et al.
Genesis (new York, N.y. : 2000), 2019
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
Kalayinia S et al.
Journal of Clinical Laboratory Analysis, 2019
Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.
Dixit R et al.
Human Mutation, 2018
Clinical whole exome sequencing in early onset diabetes patients.
Kwak SH et al.
Diabetes Research and Clinical Practice, 2016
Novel GATA4 mutations in patients with congenital ventricular septal defects.
Yang YQ et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012
A novel GATA4 mutation responsible for congenital ventricular septal defects.
Wang J et al.
International Journal of Molecular Medicine, 2011
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
Peng T et al.
Genetica, 2010
[Novel GATA4 mutations identified in patients with congenital heart disease].
Wang J et al.
Zhonghua Yi Xue Za Zhi, 2010
GATA4 mutations in 486 Chinese patients with congenital heart disease.
Zhang W et al.
European Journal of Medical Genetics, 0
Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.
Xiong F et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0