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Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

British journal of dermatology (1951), 2019-05, Vol.180 (5), p.1114-1122

2019

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Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

Heart (British Cardiac Society), 2008-11, Vol.94 (11), p.1478-1484

2008

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Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome

The Lancet (British edition), 2003-11, Vol.362 (9394), p.1457-1459

2003

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Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

European journal of medical genetics, 2015-11, Vol.58 (11), p.611-616

2015

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Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

European heart journal, 2007-03, Vol.28 (5), p.581-588

2007

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DSP mutations and arrhythmogenic cardiomyopathy

British journal of dermatology (1951), 2019-05, Vol.180 (5), p.e157-e157

2019

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DSP 突变与致心律失常性心肌病

British journal of dermatology (1951), 2019-05, Vol.180 (5), p.e169-e169

2019

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Relation between non-sustained ventricular tachycardia and major arrhythmic events in patients with dilated cardiomyopathy caused by titin truncating variants

European heart journal, 2023-11, Vol.44 (Supplement_2)

2023

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Prevalence of pathogenic variants in cardiomyopathy-associated genes in acute myocarditis: a systematic review and meta-analysis

European heart journal, 2024-10, Vol.45 (Supplement_1)

2024

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Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease

European heart journal, 2024-10, Vol.45 (Supplement_1)

2024

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Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

European heart journal, 2022-08, Vol.43 (32), p.3053-3067

2022

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Genotype predicts heart failure independent of left ventricular ejection fraction and NT-proBNP levels in hypertrophic cardiomyopathy

European heart journal, 2024-10, Vol.45 (Supplement_1)

2024

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A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

Journal of medical genetics, 2000-01, Vol.37 (1), p.50-51

2000

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Genotype influences end-stage heart failure occurrence in dilated cardiomyopathy

European heart journal, 2023-11, Vol.44 (Supplement_2)

2023

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Disease penetrance in genotype-positive relatives from families with dilated cardiomyopathy

European heart journal, 2023-11, Vol.44 (Supplement_2)

2023

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The influence of age on the diagnostic yield of genetic testing in dilated cardiomyopathy

European heart journal, 2020-11, Vol.41 (Supplement_2)

2020

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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2

American journal of human genetics, 2006-11, Vol.79 (5), p.978-984

2006

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Genetic regulation of myocardial fibrosis in hypertrophic cardiomyopathy

European heart journal, 2021-10, Vol.42 (Supplement_1)

2021

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A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy

American journal of human genetics, 2007-11, Vol.81 (5), p.964-973

2007

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X-linked Emery-Dreifuss muscular dystrophy is associated with a high risk of malignant ventricular arrhythmia

European heart journal, 2023-11, Vol.44 (Supplement_2)

2023

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Exploring the phenotypic spectrum of desmoplakin cardiomyopathy

European heart journal, 2020-11, Vol.41 (Supplement_2)

2020

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Penetrance of hypertrophic cardiomyopathy and outcome in sarcomeric mutation carriers

European heart journal, 2020-11, Vol.41 (Supplement_2)

2020

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564 Desmosomal Protein Gene Mutations in Patients with Idiopathic Dilated Cardiomyopathy Undergoing Cardiac Transplantation: A Clinicopathological Study

The Journal of heart and lung transplantation, 2011, Vol.30 (4), p.S189-S189

2011

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Influence of sex on cardiovascular outcomes in RBM20 variant carriers

European heart journal, 2022-10, Vol.43 (Supplement_2)

2022

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Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

DSP mutations and arrhythmogenic cardiomyopathy

DSP 突变与致心律失常性心肌病

Relation between non-sustained ventricular tachycardia and major arrhythmic events in patients with dilated cardiomyopathy caused by titin truncating variants

Prevalence of pathogenic variants in cardiomyopathy-associated genes in acute myocarditis: a systematic review and meta-analysis

Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease

Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

Genotype predicts heart failure independent of left ventricular ejection fraction and NT-proBNP levels in hypertrophic cardiomyopathy

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

Genotype influences end-stage heart failure occurrence in dilated cardiomyopathy

Disease penetrance in genotype-positive relatives from families with dilated cardiomyopathy

The influence of age on the diagnostic yield of genetic testing in dilated cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2

Genetic regulation of myocardial fibrosis in hypertrophic cardiomyopathy

A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy

X-linked Emery-Dreifuss muscular dystrophy is associated with a high risk of malignant ventricular arrhythmia

The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics

Exploring the phenotypic spectrum of desmoplakin cardiomyopathy

Penetrance of hypertrophic cardiomyopathy and outcome in sarcomeric mutation carriers

564 Desmosomal Protein Gene Mutations in Patients with Idiopathic Dilated Cardiomyopathy Undergoing Cardiac Transplantation: A Clinicopathological Study

Influence of sex on cardiovascular outcomes in RBM20 variant carriers

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