Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease

(2016) Maria Gallego-Delgado et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

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

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

Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations

(2014) Raffaele Coppini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Europe PMC: a full-text literature database for the life sciences and platform for innovation

(2014)   NUCLEIC ACIDS RESEARCH

Titin Mutation in Familial Restrictive Cardiomyopathy

(2013) Yael Peled et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

(2013) Luis R Lopes et al.   JOURNAL OF MEDICAL GENETICS

Next-generation sequencing to identify genetic causes of cardiomyopathies

(2012) Nadine Norton et al.   CURRENT OPINION IN CARDIOLOGY

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

(2012) Iacopo Olivotto et al.   MAYO CLINIC PROCEEDINGS

CIDeR: multifactorial interaction networks in human diseases

(2012) Martin Lechner et al.   GENOME BIOLOGY

Thin Filament Mutations

(2011) Jil C. Tardiff   CIRCULATION RESEARCH

High-throughput Genotyping Robot-assisted Method for Mutation Detection in Patients With Hypertrophic Cardiomyopathy

(2011) Barbara Bortot et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

(2010) Zagaa Odgerel et al.   NEUROMUSCULAR DISORDERS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

(2009) Philipp Ehlermann et al.   BMC Medical Genetics

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

(2009) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy

(2008) S. Waldmuller et al.   CLINICAL CHEMISTRY

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants

(2008) Jennifer Davis et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy

(2007) Anna Kostareva et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY