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.
Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.
Žebrauskienė D et al.
Genes, 2025
41010036 (PubMed )
Supplement: genes-16-01090-s001.zip › genes-3830911-supplementary › Supplemental_material_S2.pdf
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.
Melendo-Viu M et al.
Open Heart, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6
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
37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C et al.
The Journal of Biological Chemistry, 2021
34097875 (PubMed )
Supplement: mmc1.pdf
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
Clinical application of WHF-MOGE(S) classification for hypertrophic cardiomyopathy.
Agarwal A et al.
Global Heart, 2015
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
Marziliano N et al.
Neonatology, 2012
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.
Lekanne Deprez RH et al.
Journal of Medical Genetics, 2006
Select a paper to view details