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
The Role of TBX20 Gene Mutations in the Pathogenesis of Congenital Heart Disease: Functional Analysis and Genetic Association Study.
Liu C et al.
Cardiology, 2025
Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.
Gaither JBS et al.
Gigascience, 2021
An update on genetic variants of the NKX2-5.
Kolomenski JE et al.
Human Mutation, 2020
Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.
Khatami M et al.
Medicina (kaunas, Lithuania), 2018
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
Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.
Borkar Y et al.
Journal of Clinical and Diagnostic Research : Jcdr, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Chung IM et al.
Genes, 2016
Existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot.
Kheirollahi M et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2016
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Bartoszewski R et al.
Cellular & Molecular Biology Letters, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
Alcántara-Ortigoza MA et al.
Pediatric Cardiology, 2015
R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
Beffagna G et al.
Journal of Cardiovascular Medicine (hagerstown, Md.), 2013
Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects.
Sabina S et al.
Journal of Molecular and Cellular Cardiology, 2013
Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.
Reamon-Buettner SM et al.
Plos One, 2013
Investigation of somatic NKX2-5 mutations in congenital heart disease.
Draus JM et al.
Journal of Medical Genetics, 2009