Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

(2013) Jodie Ingles et al.   GENETICS IN MEDICINE

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

(2012) Nadine Norton et al.   Circulation-Cardiovascular Genetics

Population-Based Variation in Cardiomyopathy Genes

(2012) Jessica R. Golbus et al.   Circulation-Cardiovascular Genetics

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

(2012) Lena Refsgaard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetics of Hypertrophic Cardiomyopathy After 20 Years

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

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

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

(2011) et al.   CIRCULATION

Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

(2011) Benjamin Meder et al.   Circulation-Cardiovascular Genetics

The emerging role of the cardiac genetic counselor

(2011) Jodie Ingles et al.   HEART RHYTHM

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors

(2011) Barry J. Maron et al.   HEART RHYTHM

Clinical Challenges of Genotype Positive (+)–Phenotype Negative (−) Family Members in Hypertrophic Cardiomyopathy

(2010) Barry J. Maron et al.   AMERICAN JOURNAL OF CARDIOLOGY

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

(2010) María Isabel Rodríguez-García et al.   BMC Medical Genetics

Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy

(2010) B. J. Maron et al.   EUROPEAN HEART JOURNAL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy

(2009) Jodie Ingles et al.   GENETICS IN MEDICINE

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

(2009) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

(2009) Christine Chiu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

(2008) Imke Christiaans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE