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

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Communicating new knowledge on previously reported genetic variants

(2012) Samuel J. Aronson et al.   GENETICS IN MEDICINE

Danon disease: focusing on heart

(2012) Zhongwei Cheng et al.   JOURNAL OF HUMAN GENETICS

Inherited Cardiomyopathies

(2012) Polakit Teekakirikul et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genetics of Hypertrophic Cardiomyopathy After 20 Years

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

Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

(2011) Daniel M. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

(2011) Jodie Ingles et al.   HEART

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary

(2011) Bernard J. Gersh et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

(2010) Adam J. Saltzman et al.   CIRCULATION RESEARCH

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

(2010) S. Wordsworth et al.   EUROPEAN HEART JOURNAL

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

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)

(2010) Hsiang-Yu Lin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications

(2010) Sivakumar Gowrisankar et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

(2010) Francesca Girolami et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

(2009) Hsiang-Yu Lin et al.   Circulation-Cardiovascular Genetics

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

(2008) Hiroyuki Morita et al.   NEW ENGLAND JOURNAL OF MEDICINE