Associated Papers
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
Innate Immune Signaling in Hearts and Buccal Mucosa Cells of Patients with Arrhythmogenic Cardiomyopathy.
Bueto-Beni C et al.
Biorxiv : the Preprint Server for Biology, 2023
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K et al.
European Journal of Human Genetics : Ejhg, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Lota AS et al.
Circulation, 2022
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
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Haggerty CM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.
Soveizi M et al.
Annals of Human 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