Associated Papers
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
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.
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf
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
A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing.
Oliveira TG et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
Marziliano N et al.
Neonatology, 2012
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
Waldmüller S et al.
Clinical Chemistry, 2008
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