A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

(2017) Christopher M Haggerty et al.   GENETICS IN MEDICINE

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism

(2016) Abdelaziz Beqqali et al.   CARDIOVASCULAR RESEARCH

Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals

(2016) Elham Kayvanpour et al.   Clinical Research in Cardiology

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

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

(2016) Monkol Lek et al.   NATURE

Lamins: Nuclear Intermediate Filament Proteins with Fundamental Functions in Nuclear Mechanics and Genome Regulation

(2015) Yosef Gruenbaum et al.   Annual Review of Biochemistry

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents

(2015) Adrien Moreau et al.   Frontiers in Pharmacology

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

Decreased Levels of BAG3 in a Family With a Rare Variant and in Idiopathic Dilated Cardiomyopathy

(2014) Arthur M. Feldman et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Genetics and Disease of Ventricular Muscle

(2014) D. Fatkin et al.   Cold Spring Harbor Perspectives in Medicine

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

(2012) Nadine Norton et al.   Circulation-Cardiovascular Genetics

Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation

(2012) Stephen Pan et al.   Circulation-Cardiovascular Genetics

Population-Based Variation in Cardiomyopathy Genes

(2012) Jessica R. Golbus et al.   Circulation-Cardiovascular Genetics

R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy

(2012) Stefan A. Mann et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

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

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

(2011) William P. McNair et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

BAG3 and Hsc70 Interact With Actin Capping Protein CapZ to Maintain Myofibrillar Integrity Under Mechanical Stress

(2010) Akinori Hishiya et al.   CIRCULATION RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation

(2009) Lisa M. Dellefave et al.   Circulation-Cardiovascular Genetics

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

(2009) Katharine M. Brauch et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY