Associated Papers
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study.
Ahamed H et al.
Archives of Disease in Childhood, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Coban-Akdemir ZH et al.
American Journal of Medical Genetics. Part A, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The pathogenicity of genetic variants previously associated with left ventricular non-compaction.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2016
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.
Sicko RJ et al.
Plos One, 2016
Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes?
Delgado A et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2013
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Chang B et al.
Molecular Genetics and Metabolism, 2011
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Uro-Coste E et al.
Neuromuscular Disorders : Nmd, 2009
Sarcomere mutations in cardiogenesis and ventricular noncompaction.
McNally E et al.
Trends in Cardiovascular Medicine, 2009
Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen S et al.
Circulation, 2008
Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart.
Dellefave L et al.
Circulation, 2008
Gene mutations in apical hypertrophic cardiomyopathy.
Arad M et al.
Circulation, 2005