Associated Papers
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
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S2
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Stroeks SLVM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33782553 (PubMed )
Supplement: NIHMS1689970-supplement-Table_S2.xlsx › Sheet1
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST2
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS et al.
Circulation. Genomic and Precision Medicine, 2020
32841044 (PubMed )
Supplement: hcg-13-396-s001.pdf
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.
Verdonschot JAJ et al.
Circulation. Heart Failure, 2018
30571196 (PubMed )
Supplement: circhf_circhf-2018-005220_supp1.pdf
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
28356264 (PubMed )
Supplement: circgenetics_circcvg-2016-001584_supp1.pdf
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Claes GR et al.
European Heart Journal, 2016
Selected mutations in the myosin binding protein C gene in the Polish population of patients with hypertrophic cardiomyopathy.
Rudziński T et al.
Kardiologia Polska, 2008
Cardiac myosin binding protein C: its role in physiology and disease.
Flashman E et al.
Circulation Research, 2004
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Erdmann J et al.
Clinical Genetics, 2003
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
Erdmann J et al.
Journal of the American College of Cardiology, 2001
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