Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy

Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation

(2017) Yuta Yamamoto et al.   HUMAN MOLECULAR GENETICS

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation

(2017) Silvia Castelletti et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Systematic gene tagging using CRISPR/Cas9 in human stem cells to illuminate cell organization

(2017) Brock Roberts et al.   MOLECULAR BIOLOGY OF THE CELL

Arrhythmogenic Right Ventricular Cardiomyopathy

(2017) Domenico Corrado et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT SyndromeNovelty and Significance

(2016) Worawan B. Limpitikul et al.   CIRCULATION RESEARCH

Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells

(2016) Angeliki Asimaki et al.   Circulation-Arrhythmia and Electrophysiology

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers

(2015) Aditya Bhonsale et al.   EUROPEAN HEART JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Arrhythmogenic Cardiomyopathy in a Patient With a Rare Loss-of-Function KCNQ1 Mutation

(2015) Q. Xiong et al.   Journal of the American Heart Association

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype

(2014) Jose María López-Ayala et al.   EUROPACE

Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model

(2013) Robert C. Lyon et al.   HUMAN MOLECULAR GENETICS

Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy

(2013) Frank I. Marcus et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Silencing of desmoplakin decreases connexin43/Nav1.5 expression and sodium current in HL-1 cardiomyocytes

(2013) QIANHUAN ZHANG et al.   Molecular Medicine Reports

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

(2012) TB Rasmussen et al.   CLINICAL GENETICS

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

(2011) Jamie D. Kapplinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

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

(2010) Veronique Fressart et al.   EUROPACE