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 › S11._Variants_LD_check
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list
Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.
Lv C et al.
Nature Communications, 2025
40169585 (PubMed )
Supplement: 41467_2025_58453_MOESM3_ESM.xlsx › Sheet1
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants
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
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
35288587 (PubMed )
Supplement: 41525_2022_288_MOESM2_ESM.xlsx › SpTable_1_CodingSnvIndels_CMP
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf
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
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Marstrand P et al.
Circulation, 2020
32228044 (PubMed )
Supplement: cir-141-1371-s001.pdf
Genetics of hypertrophic cardiomyopathy in Norway.
Berge KE et al.
Clinical Genetics, 2014
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