Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy

(2019) Deema Aljeaid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

(2019) Antonio Rueda Martin et al.   NATURE GENETICS

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

(2018) Francesco Mazzarotto et al.   GENETICS IN MEDICINE

NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes

(2018) Ozge Ceyhan-Birsoy et al.   HUMAN MUTATION

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

(2018) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

(2018) Richard D. Bagnall et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

(2018) Sari U. M. Vanninen et al.   PLoS One

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

(2018) Kate L. Thomson et al.   GENETICS IN MEDICINE

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

(2017) Irene Mademont-Soler et al.   PLoS One

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

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

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

(2015) Christopher Semsarian et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

(2015) Ozge Ceyhan-Birsoy et al.   Molecular Genetics & Genomic Medicine

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

(2014) J. Martijn Bos et al.   MAYO CLINIC PROCEEDINGS

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

(2014) Jamie D. Kapplinger et al.   Journal of Cardiovascular Translational Research

Toronto Hypertrophic Cardiomyopathy Genotype Score for Prediction of a Positive Genotype in Hypertrophic Cardiomyopathy

(2012) Christiane Gruner et al.   Circulation-Cardiovascular Genetics

Genetics of Hypertrophic Cardiomyopathy After 20 Years

(2012) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing

(2011) Samuel Myllykangas et al.   NATURE BIOTECHNOLOGY

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

(2010) Gilles Millat et al.   European Journal of Medical Genetics

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

(2008) Paal Skytt Andersen et al.   HUMAN MUTATION