Associated Papers
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy.
Chen L et al.
Circulation, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.
Pohl GM et al.
Frontiers in Cardiovascular Medicine, 2023
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN et al.
Frontiers in Cardiovascular Medicine, 2023
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.
Stevens TL et al.
Journal of Cardiovascular Development and Disease, 2020
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
Hall CL et al.
European Journal of Human Genetics : Ejhg, 2018
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
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
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
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.
Tšuiko O et al.
Human Reproduction (oxford, England), 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R et al.
American Journal of Medical Genetics. Part A, 2016
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
Lorenzon A et al.
The American Journal of Cardiology, 2015
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
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
Arrhythmogenic right ventricular cardiomyopathy: the challenge of genetic interpretation in clinically suspected cases.
Anastasakis A et al.
Cardiology, 2012
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
De Bortoli M et al.
European Journal of Human Genetics : Ejhg, 2010
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
Simpson MA et al.
Cardiology, 2009
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
Beffagna G et al.
Bmc Medical Genetics, 2007