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

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

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

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

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

(2016) Robert C. Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recommendations for the integration of genomics into clinical practice

(2016) Sarah Bowdin et al.   GENETICS IN MEDICINE

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

(2016) Jessica Ezzell Hunter 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

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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

The Increasing Importance of Gene-Based Analyses

(2016) Elizabeth T. Cirulli   PLoS Genetics

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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies

(2015) Stephan Waldmüller et al.   MOLECULAR AND CELLULAR PROBES

ClinGen — The Clinical Genome Resource

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

Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

(2014) J. R. Golbus et al.   Circulation-Cardiovascular Genetics

Myotonic dystrophy: time for evidence-based therapy

(2014) Perry Elliott   EUROPEAN HEART JOURNAL

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

(2014) Rafael Valdés-Mas et al.   Nature Communications

Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

(2013) Maria M. Alves et al.   DEVELOPMENTAL BIOLOGY

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

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

(2011) et al.   CIRCULATION

Inherited Cardiomyopathies

(2011) Hugh Watkins et al.   NEW ENGLAND JOURNAL OF MEDICINE