Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Acquisition of Normal Tissues for the GTEx Program

(2013) Helen M. Moore   BIOPRESERVATION AND BIOBANKING

Titin Is a Major Human Disease Gene

(2013) Martin M. LeWinter et al.   CIRCULATION

Clinical utility and prognostic value of left atrial volume assessment by cardiovascular magnetic resonance in non-ischaemic dilated cardiomyopathy

(2013) Ankur Gulati et al.   EUROPEAN JOURNAL OF HEART FAILURE

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

(2013) Roberta Roncarati et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Association of Fibrosis With Mortality and Sudden Cardiac Death in Patients With Nonischemic Dilated Cardiomyopathy

(2013) Ankur Gulati et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic mutations and mechanisms in dilated cardiomyopathy

(2013) Elizabeth M. McNally et al.   JOURNAL OF CLINICAL INVESTIGATION

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

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

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

(2013) Jacqueline A. L. MacArthur et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

(2012) Alexander G. Bick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Sensitive Giant Titin Result in a Broken Heart

(2012) Leslie A. Leinwand et al.   CIRCULATION RESEARCH

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

Deep phenotyping for precision medicine

(2012) Peter N. Robinson   HUMAN MUTATION

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

(2012) Claude Houdayer et al.   HUMAN MUTATION

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

(2012) Neal K. Lakdawala et al.   JOURNAL OF CARDIAC FAILURE

Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project

(2012) Jill D. Siegfried et al.   Journal of Genetic Counseling

Incidence of and Risk Factors for Sudden Cardiac Death in Children With Dilated Cardiomyopathy

(2012) Elfriede Pahl et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Broken giant linked to heart failure

(2012) Elizabeth M. McNally   NATURE

Truncations of Titin Causing Dilated Cardiomyopathy

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

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

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

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist

(2011) James S Ware et al.   HEART

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

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

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Cardiac remodeling at the population level—risk factors, screening and outcomes

(2011) Ola Gjesdal et al.   Nature Reviews Cardiology

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

A database and API for variation, dense genotyping and resequencing data

(2010) Daniel Rios et al.   BMC BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy

(2010) Klaus Stark et al.   PLoS Genetics

2q31.2q32.3 deletion syndrome: Report of an adult patient

(2009) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

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

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

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

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Muscle Giants: Molecular Scaffolds in Sarcomerogenesis

(2009) Aikaterini Kontrogianni-Konstantopoulos et al.   PHYSIOLOGICAL REVIEWS

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

(2008) Michele Pasotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Mechanoenzymatics of titin kinase

(2008) E. M. Puchner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA