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

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy

(2017) Charlotte Burns et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup

(2017) Carol Ko et al.   GENETICS IN MEDICINE

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease

(2017) Maarten Arends et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Nonfamilial Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

(2017) Jodie Ingles et al.   Circulation-Cardiovascular Genetics

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

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

(2016) Monkol Lek et al.   NATURE

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Myotonic dystrophy: time for evidence-based therapy

(2014) Perry Elliott   EUROPEAN HEART JOURNAL

Yield of Molecular and Clinical Testing for Arrhythmia Syndromes

(2013) Nynke Hofman et al.   CIRCULATION

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

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

Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases

(2012) C. Rapezzi et al.   EUROPEAN HEART JOURNAL

Genetics of Hypertrophic Cardiomyopathy After 20 Years

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

Genetics of inherited cardiomyopathy

(2011) D. Jacoby et al.   EUROPEAN HEART JOURNAL

Hypertrophic Cardiomyopathy

(2010) Carolyn Y. Ho   Heart Failure Clinics

Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy

(2009) Barry J. Maron   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION