Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
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
Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.
Zhang B et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
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
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.
Medeiros-Domingo A 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, 2017
Candidate Gene Association Studies of Anthracycline-induced Cardiotoxicity: A Systematic Review and Meta-analysis.
Leong SL et al.
Scientific Reports, 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
A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.
Van Allen EM et al.
Oncotarget, 2016
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 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
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.
Allegue C et al.
Plos One, 2015
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
Rasmussen TB et al.
Circulation. Cardiovascular Genetics, 2014
Dynamic conduction and repolarisation changes in early arrhythmogenic right ventricular cardiomyopathy versus benign outflow tract ectopy demonstrated by high density mapping & paced surface ECG analysis.
Finlay MC et al.
Plos One, 2014
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Tan BY et al.
Journal of Cardiovascular Translational Research, 2010
The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease.
Delmar M et al.
Circulation Research, 2010
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Bhuiyan ZA et al.
Circulation. Cardiovascular Genetics, 2009
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
Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Posch MG et al.
Nature Clinical Practice. Cardiovascular Medicine, 2008
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.
Syrris P et al.
European Heart Journal, 2007
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
Posch MG et al.
Molecular Genetics and Metabolism, 0
Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy.
Wasielewski M et al.
Open Heart, 0