Associated Papers
Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.
Ryu SW et al.
Cardiovascular Diagnosis and Therapy, 2025
41509624 (PubMed )
Supplement: cdt-15-06-1174-supplementary.pdf
Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.
Antheia K et al.
Scientific Reports, 2025
41214182 (PubMed )
Supplement: 41598_2025_27238_MOESM1_ESM.pdf
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
40102575 (PubMed )
Supplement: 41390_2025_3989_MOESM2_ESM.xlsx › ____1
Molecular mechanisms of altered contraction with the β-myosin R403Q mutation in porcine ventricular muscle and a human stem cell-derived cardiomyocyte model.
Steczina S et al.
Biorxiv : the Preprint Server for Biology, 2025
Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants.
Flisikowska T et al.
Journal of Molecular and Cellular Cardiology Plus, 2025
Arrhythmias as Presentation of Genetic Cardiomyopathy.
Lukas Laws J et al.
Circulation Research, 2022
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_S1
Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells.
Sewanan LR et al.
The Journal of Physiology, 2020
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
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
How do mutations in contractile proteins cause the primary familial cardiomyopathies?
Marston SB
Journal of Cardiovascular Translational Research, 2011
Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing.
Fitzgerald-Butt SM et al.
Pediatric Cardiology, 2010
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.
Bashyam MD et al.
The Canadian Journal of Cardiology, 2007
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