Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
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Title
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume 16, Issue 4, Pages 286-293
Publisher
Springer Nature
Online
2013-10-10
DOI
10.1038/gim.2013.138
References
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Related references
Note: Only part of the references are listed.- 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
- 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
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