Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients.
Bidina L et al.
Anatolian Journal of Cardiology, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Molecular Autopsy of Desmosomal Protein Plakophilin-2 in Sudden Unexplained Nocturnal Death Syndrome.
Huang L et al.
Journal of Forensic Sciences, 2016
Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes.
Gréen A et al.
The Journal of Molecular Diagnostics : Jmd, 2015
A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy.
Ostrowska Dahlgren B et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2012
Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.
Nakajima T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2012
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
Lahtinen AM et al.
Heart Rhythm, 2011
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.
Zhang G et al.
Human Genomics, 2011
Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.
Wei X et al.
Plos One, 2011
Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?
Christensen AH et al.
Cardiology, 2010
Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.
Watkins DA et al.
Heart Rhythm, 2009
Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.
Lahtinen AM et al.
International Journal of Cardiology, 2008
Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.
Wilton SB et al.
Heart Rhythm, 2008