Associated Papers
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.
Boen HM et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2022
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Goudal A et al.
Human Mutation, 2022
Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives.
Lopez-Ayala JM et al.
Frontiers in Cardiovascular Medicine, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.
Boente Mdel C et al.
The British Journal of Dermatology, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
Garcia-Pavia P et al.
Heart (british Cardiac Society), 2011
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.
Pigors M et al.
Human Molecular Genetics, 2011
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Tan BY et al.
Journal of Cardiovascular Translational Research, 2010
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan AD et al.
Circulation. Cardiovascular Genetics, 2009