Associated Papers
Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective.
Motwani P et al.
American Journal of Medical Genetics. Part A, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
EPAS1 induction drives myocardial degeneration in desmoplakin-cardiomyopathy.
Kyriakopoulou E et al.
Iscience, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies.
Li Tan SM et al.
Arrhythmia & Electrophysiology Review, 2025
Role of miRNA-mRNA Interactome in Pathophysiology of Arrhythmogenic Cardiomyopathy.
Bonet F et al.
Biomedicines, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.
Mansoorshahi S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Beaman MM et al.
American Journal of Medical Genetics. Part A, 2023
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2023
Catalytic antibodies in arrhythmogenic cardiomyopathy patients cleave desmoglein 2 and N-cadherin and impair cardiomyocyte cohesion.
Yeruva S et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy.
Tsui H et al.
Science Translational Medicine, 2023
Therapeutic efficacy of AAV-mediated restoration of PKP2 in arrhythmogenic cardiomyopathy.
Kyriakopoulou E et al.
Nature Cardiovascular Research, 2023
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.
Hylind RJ et al.
Circulation. Genomic and Precision Medicine, 2022
Arrhythmogenic Right Ventricular Cardiomyopathy Prevalence and Arrhythmic Outcomes in At-Risk Family Members: A Systematic Review and Meta-Analysis.
Sharma A et al.
Circulation. Genomic and Precision Medicine, 2022
The EP300/TP53 pathway, a suppressor of the Hippo and canonical WNT pathways, is activated in human hearts with arrhythmogenic cardiomyopathy in the absence of overt heart failure.
Rouhi L et al.
Cardiovascular Research, 2022
Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism.
Langley E et al.
Frontiers in Genetics, 2022
Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.
Biernacka EK et al.
Journal of Applied Genetics, 2021
Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization.
Zhang K et al.
Science Advances, 2021
The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Epicardial differentiation drives fibro-fatty remodeling in arrhythmogenic cardiomyopathy.
Kohela A et al.
Science Translational Medicine, 2021
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.
Jahng JWS et al.
Stem Cell Research, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM et al.
Human Mutation, 2021
P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
van der Klooster ZJ et al.
Journal of Cellular and Molecular Medicine, 2021
Different Expressions of Pericardial Fluid MicroRNAs in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy and Ischemic Heart Disease Undergoing Ventricular Tachycardia Ablation.
Khudiakov AA et al.
Frontiers in Cardiovascular Medicine, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights From Genetic Testing.
Ader F et al.
Circulation. Genomic and Precision Medicine, 2020
Predicting Risk for Adult-Onset Sudden Cardiac Death in the Population.
Bezzina CR et al.
Journal of the American College of Cardiology, 2019
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
Headrick AT et al.
Molecular Genetics & Genomic Medicine, 2019
Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young.
Tester DJ et al.
Jacc. Clinical Electrophysiology, 2019
Usefulness of Total 12-Lead QRS Voltage for Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy in Patients With Heart Failure Severe Enough to Warrant Orthotopic Heart Transplantation and Morphologic Illustration of Its Cardiac Diversity.
Roberts WC et al.
The American Journal of Cardiology, 2018
Arrhythmogenic cardiomyopathy: Identification of desmosomal gene variations and desmosomal protein expression in variation carriers.
Wang L et al.
Experimental and Therapeutic Medicine, 2018
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
Hoorntje ET et al.
Plos One, 2018
Pleiotropic Phenotypes Associated With PKP2 Variants.
Novelli V et al.
Frontiers in Cardiovascular Medicine, 2018
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 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
Sudden Cardiac Arrest and Rare Genetic Variants in the Community.
Milano A et al.
Circulation. Cardiovascular Genetics, 2016