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
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-potential_comp.het.
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong IUS et al.
Medical Sciences (basel, Switzerland), 2017
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Waldmüller S et al.
Molecular and Cellular Probes, 2015
Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
Kirchner F et al.
Circulation. Cardiovascular Genetics, 2012
Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?
Christensen AH et al.
Cardiology, 2010
Select a paper to view details