Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Giovanni Quarta et al.   CIRCULATION

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2011) Moniek G.P.J. Cox et al.   CIRCULATION

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

Pathophysiology of arrhythmogenic cardiomyopathy

(2011) Cristina Basso et al.   Nature Reviews Cardiology

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

(2010) Veronique Fressart et al.   EUROPACE

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria

(2010) F. I. Marcus et al.   EUROPEAN HEART JOURNAL

Allele-specific DNA methylation: beyond imprinting

(2010) B. Tycko   HUMAN MOLECULAR GENETICS

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

(2010) Baerbel Klauke et al.   HUMAN MOLECULAR GENETICS

Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome

(2010) Julien Barc et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2009) Barbara Bauce et al.   HEART RHYTHM

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS 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

The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy

(2008) Demetrios A. Arvanitis et al.   EUROPEAN HEART JOURNAL

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

(2008) Carey-Anne Eddy et al.   HEART RHYTHM

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

(2008) Sharon J. Diskin et al.   NUCLEIC ACIDS RESEARCH