Associated Papers
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
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
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
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.
Serra W et al.
Heliyon, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP et al.
Jama Cardiology, 2022
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
Fourey D et al.
Circulation. Cardiovascular Genetics, 2017
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
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
Tsoutsman T et al.
Clinical and Experimental Pharmacology & Physiology, 2008
Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.
Alpert NR et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2005
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Mohiddin SA et al.
Genetic Testing, 2003
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