Associated Papers
Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.
Silajdzija E et al.
Journal of the American Heart Association, 2025
41195766 (PubMed )
Supplement: JAH3-14-e043711-s001.pdf
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf
Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases.
Mhatre I et al.
Scientific Reports, 2023
37798313 (PubMed )
Supplement: 41598_2023_44127_MOESM2_ESM.pdf
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.
Nielsen SK et al.
Jacc. Advances, 2023
38938358 (PubMed )
Supplement: mmc1.docx
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_S10
Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.
Girolami F et al.
Frontiers in Cardiovascular Medicine, 2022
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33782553 (PubMed )
Supplement: NIHMS1689970-supplement-Table_S1.xlsx › Sheet1
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
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Kolokotronis K et al.
Journal of Clinical Medicine, 2020
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28518168 (PubMed )
Supplement: gim201726x1.pdf
Select a paper to view details