Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2016) Monkol Lek et al.   NATURE

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

(2016) Chee Jian Pua et al.   Journal of Cardiovascular Translational Research

ZBTB17(MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart FailureCLINICAL PERSPECTIVE

(2015) Byambajav Buyandelger et al.   Circulation-Cardiovascular Genetics

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

(2015) Solena Le Scouarnec et al.   HUMAN MOLECULAR GENETICS

Modeling structural and functional deficiencies ofRBM20familial dilated cardiomyopathy using human induced pluripotent stem cells

(2015) Saranya P. Wyles et al.   HUMAN MOLECULAR GENETICS

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

(2015) J. T. Hinson et al.   SCIENCE

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

(2015) Angharad M. Roberts et al.   Science Translational Medicine

Precursors of Hypertensive Heart Phenotype Develop in Healthy Adults

(2015) Antonio de Marvao et al.   JACC-Cardiovascular Imaging

ZBTB17(MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart FailureCLINICAL PERSPECTIVE

(2015) Byambajav Buyandelger et al.   Circulation-Cardiovascular Genetics

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

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

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

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

Effects of GC Bias in Next-Generation-Sequencing Data on De Novo Genome Assembly

(2013) Yen-Chun Chen et al.   PLoS One

A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding

(2012) Judith B.A. van de Meerakker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

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

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

(2010) P. Charron et al.   EUROPEAN HEART JOURNAL

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

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