Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal DS et al.
Journal of Cardiovascular Development and Disease, 2022
35200695 (PubMed )
Supplement: jcdd-09-00041-s001.zip › jcdd-1557190-supplementary.xlsx › GenetischeBefunde
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 characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
Roncarati R et al.
Journal of Cellular Physiology, 2011
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