Associated Papers
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing.
Takeda N et al.
Genes, Chromosomes & Cancer, 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
Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease.
Bariani R et al.
Biomolecules, 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
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
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
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
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.
DeWitt ES et al.
Journal of the American College of Cardiology, 2019
Pleiotropic Phenotypes Associated With PKP2 Variants.
Novelli V et al.
Frontiers in Cardiovascular Medicine, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Relevance of molecular testing in patients with a family history of sudden death.
Kauferstein S et al.
Forensic Science International, 2017
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.
Alcalde M et al.
Plos One, 2014
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T et al.
Journal of the American College of Cardiology, 2010
Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.
Watkins DA et al.
Heart Rhythm, 2009