An International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) using the ClinGen Framework

Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5

(2020) Fernando Dominguez et al.   HEART RHYTHM

The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy

(2020) Cynthia A James et al.   EUROPEAN HEART JOURNAL

Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria

(2020) Domenico Corrado et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy

(2019) Jeffrey A. Towbin et al.   HEART RHYTHM

Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy

(2019) Marta Gigli et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective

(2018) Kai Chen et al.   CLINICAL CARDIOLOGY

A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype

(2018) Liang Chen et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

(2018) Brittney Murray et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Lamin A/C Cardiomyopathy

(2017) Gianfranco Sinagra et al.   Circulation-Cardiovascular Genetics

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia

(2017) Francisco José Bermúdez-Jiménez et al.   CIRCULATION

Guiding Cardiac Conduction With GATA

(2015) Mona Nemer et al.   Circulation-Cardiovascular Genetics

Guiding Cardiac Conduction With GATA

(2015) Mona Nemer et al.   Circulation-Cardiovascular Genetics

Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy

(2015) Cinzia Forleo et al.   PLoS One

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

(2014) H. Milting et al.   EUROPEAN HEART JOURNAL

Homozygous Founder Mutation in Desmocollin-2 ( DSC2 ) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population

(2013) Brenda Gerull et al.   Circulation-Cardiovascular Genetics

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

(2013) Berivan Baskin et al.   HUMAN GENETICS

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy

(2013) P. A. van der Zwaag et al.   Netherlands Heart Journal

Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

(2012) Alessandra Lorenzon et al.   AMERICAN JOURNAL OF CARDIOLOGY

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

(2012) Jolanda van Hengel et al.   EUROPEAN HEART JOURNAL

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

(2012) Paul A. van der Zwaag et al.   EUROPEAN JOURNAL OF HEART FAILURE

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

(2012) Carola Hedberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

(2011) Matthew Taylor et al.   CIRCULATION

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Desmin-related myopathy

(2010) KY van Spaendonck-Zwarts et al.   CLINICAL GENETICS

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS