Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionCLINICAL PERSPECTIVE

(2016) Robert Hastings et al.   Circulation-Cardiovascular Genetics

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

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

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

(2016) Yigal M. Pinto et al.   EUROPEAN HEART JOURNAL

Left Ventricular Noncompaction

(2016) Jonathan R. Weir-McCall et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionCLINICAL PERSPECTIVE

(2016) Robert Hastings 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

Left ventricular non-compaction cardiomyopathy

(2015) Jeffrey A Towbin et al.   LANCET

StringTie enables improved reconstruction of a transcriptome from RNA-seq reads

(2015) Mihaela Pertea et al.   NATURE BIOTECHNOLOGY

Interobserver Agreement of the Echocardiographic Diagnosis of LV Hypertrabeculation/Noncompaction

(2015) Claudia Stöllberger et al.   JACC-Cardiovascular Imaging

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

(2015) Steven Marston et al.   PLoS One

Reversible De Novo Left Ventricular Trabeculations in Pregnant Women

(2014) Sabiha Gati et al.   CIRCULATION

Novel  -Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias: A Massively Parallel Sequencing Study

(2014) F. Girolami et al.   Circulation-Cardiovascular Genetics

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

The Symptom Complex of Familial Sinus Node Dysfunction and Myocardial Noncompaction Is Associated With Mutations in the HCN4 Channel

(2014) Patrick A. Schweizer et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Left Ventricular Noncompaction

(2014) Eloisa Arbustini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2014) Martin Kircher et al.   NATURE GENETICS

Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy

(2013) Wen Liu et al.   AMERICAN JOURNAL OF CARDIOLOGY

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

(2013) Guillermo Luxán et al.   NATURE MEDICINE

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

King of hearts: a splicing factor rules cardiac proteins

(2012) Wolfgang A Linke et al.   NATURE MEDICINE

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sarcomere Gene Mutations in Isolated Left Ventricular Noncompaction Cardiomyopathy Do Not Predict Clinical Phenotype

(2011) Susanne Probst et al.   Circulation-Cardiovascular Genetics

Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?

(2011) E. Oechslin et al.   EUROPEAN HEART JOURNAL

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation

(2010) Mark Luedde et al.   CARDIOVASCULAR RESEARCH

Essential Roles of an Intercalated Disc Protein, mXinβ, in Postnatal Heart Growth and Survival

(2010) Qinchuan Wang et al.   CIRCULATION RESEARCH

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

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

The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans

(2010) Tomás Ripoll Vera et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

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

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Cooperative regulation in development by SMRT and FOXP1

(2008) K. Jepsen et al.   GENES & DEVELOPMENT