Associated Papers
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Animal Models and Molecular Pathogenesis of Arrhythmogenic Cardiomyopathy Associated with Pathogenic Variants in Intercalated Disc Genes.
Vencato S et al.
International Journal of Molecular Sciences, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 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
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
The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.
Abicht A et al.
Cardiovascular Diagnosis and Therapy, 2021
A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report.
Katanyuwong P et al.
Frontiers in Pediatrics, 2021
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.
DeWitt ES et al.
Journal of the American College of Cardiology, 2019
Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.
Verhagen JMA et al.
Circulation. Genomic and Precision Medicine, 2018
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 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
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.
Groeneweg JA et al.
The American Journal of Cardiology, 2013
Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy.
Noorman M et al.
Heart Rhythm, 2013
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
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T et al.
Journal of the American College of Cardiology, 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
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP et al.
Circulation, 2006