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
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
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 › MYBPC3
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
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
Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.
Zhang XL et al.
Biochemistry, 2014
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.
De Lange WJ et al.
The Journal of General Physiology, 2013
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.
Jensen MK et al.
Circulation, 2013
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
Andersen PS et al.
European Journal of Human Genetics : Ejhg, 2004
Cardiac myosin binding protein C: its role in physiology and disease.
Flashman E et al.
Circulation Research, 2004
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.
Andersen PS et al.
Journal of Medical Genetics, 2001
Select a paper to view details