Associated Papers
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
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C et al.
The Journal of Biological Chemistry, 2021
Investigation of de novo variation in pediatric cardiomyopathy.
Parrott A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
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_S1B
Genetics of hypertrophic cardiomyopathy in Norway.
Berge KE et al.
Clinical Genetics, 2014
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
Miller EM et al.
Journal of Genetic Counseling, 2013
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
Kindel SJ et al.
Journal of Cardiac Failure, 2012
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