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
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
Human Genetics of Ventricular Septal Defect.
Perrot A et al.
Advances in Experimental Medicine and Biology, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.
Yang L et al.
Database : the Journal of Biological Databases and Curation, 2020
Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.
Zhang Y et al.
Medicine, 2017
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
Zhang X et al.
Plos One, 2016
27391137 (PubMed )
Supplement: pone.0158904.s003.pdf
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
Prendiville T et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Identification of functional mutations in GATA4 in patients with congenital heart disease.
Wang E et al.
Plos One, 2013
23626780 (PubMed )
Supplement: pone.0062138.s004.xlsx › information_of_all_mutations
A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.
Yang YQ et al.
Pediatric Cardiology, 2012
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