Whole exome sequencing with genomic triangulation implicatesCDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome

(2015) H. M. Altmann et al.   CIRCULATION

Identification and Functional Characterization of a NovelCACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death

(2015) Nicole J. Boczek et al.   Circulation-Arrhythmia and Electrophysiology

Arrhythmogenic Right Ventricular Cardiomyopathy

(2015) Kyla E. Dunn et al.   Circulation-Cardiovascular Genetics

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

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

Expression Atlas update—an integrated database of gene and protein expression in humans, animals and plants

(2015) Robert Petryszak et al.   NUCLEIC ACIDS RESEARCH

Arrhythmogenic Right Ventricular Cardiomyopathy

(2015) Kyla E. Dunn et al.   Circulation-Cardiovascular Genetics

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

Hippo Activation in Arrhythmogenic Cardiomyopathy

(2014) Yong Hu et al.   CIRCULATION RESEARCH

Intercalated Discs and Arrhythmogenic Cardiomyopathy

(2014) A. Rampazzo et al.   Circulation-Cardiovascular Genetics

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Covalent and Density-Controlled Surface Immobilization of E-Cadherin for Adhesion Force Spectroscopy

(2014) Dagmar Fichtner et al.   PLoS One

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

Cell-Cell Connection to Cardiac Disease

(2010) Farah Sheikh et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Structure and Biochemistry of Cadherins and Catenins

(2009) L. Shapiro et al.   Cold Spring Harbor Perspectives in Biology

N-cadherin haploinsufficiency affects cardiac gap junctions and arrhythmic susceptibility

(2008) Jifen Li et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Resolving cadherin interactions and binding cooperativity at the single-molecule level

(2008) Y. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA