Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E et al.
Journal of Cardiovascular Translational Research, 2023
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
Generation of two edited iPSCs lines by CRISPR/Cas9 with point mutations in PKP2 gene for arrhythmogenic cardiomyopathy in vitro modeling.
Amin G et al.
Stem Cell Research, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review.
Bariani R et al.
Journal of Clinical Medicine, 2022
The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Left Ventricular Dysfunction in Arrhythmogenic Cardiomyopathy: Association With Exercise Exposure, Genetic Basis, and Prognosis.
Lie ØH et al.
Journal of the American Heart Association, 2021
Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.
Vähätalo JH et al.
Frontiers in Cardiovascular Medicine, 2021
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetics and genomics of dilated cardiomyopathy and systolic heart failure.
Tayal U et al.
Genome 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
Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.
Song W et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.
Christensen AH et al.
European Journal of Human Genetics : Ejhg, 2016
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N et al.
Cell, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
The role of clinical, genetic and segregation evaluation in sudden infant death.
Campuzano O et al.
Forensic Science International, 2014
Genetic diagnosis through whole-exome sequencing.
Eng CM et al.
The New England Journal of Medicine, 2014
Genetic diagnosis through whole-exome sequencing.
van der Zwaag PA et al.
The New England Journal of Medicine, 2014
Genetic diagnosis through whole-exome sequencing.
Friedman JM et al.
The New England Journal of Medicine, 2014
Genetic diagnosis through whole-exome sequencing.
Rosen JM
The New England Journal of Medicine, 2014
Genetic diagnosis through whole-exome sequencing.
Jacob HJ
The New England Journal of Medicine, 2014
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Dorschner MO et al.
American Journal of Human Genetics, 2013
Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?
Groeneweg JA et al.
Heart Rhythm, 2013
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
Garcia-Pavia P et al.
Heart (british Cardiac Society), 2011
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Tan BY et al.
Journal of Cardiovascular Translational Research, 2010
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
Christensen AH et al.
Journal of Medical Genetics, 2010
Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy.
Sen-Chowdhry S et al.
Circulation. Cardiovascular Genetics, 2010
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
Elliott P et al.
Circulation. Cardiovascular Genetics, 2010
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Fressart V et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T et al.
Journal of the American College of Cardiology, 2010
Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?
Christensen AH et al.
Cardiology, 2010
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan AD et al.
Circulation. Cardiovascular Genetics, 2009
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van der Zwaag PA et al.
Human Mutation, 2009
Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.
Dalal D et al.
Journal of the American College of Cardiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
Sen-Chowdhry S et al.
Journal of the American College of Cardiology, 2008
Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.
Behr ER et al.
European Heart Journal, 2008
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Sen-Chowdhry S et al.
Journal of the American College of Cardiology, 2007
Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.
Koopmann TT et al.
Heart Rhythm, 2007
Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype.
Sen-Chowdhry S et al.
Journal of the American College of Cardiology, 2006
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.
Dalal D et al.
Circulation, 2006
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.
Syrris P et al.
Circulation, 2006
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull B et al.
Nature Genetics, 2004