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_S10
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
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022
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
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
Burns C et al.
Circulation. Cardiovascular Genetics, 2017
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
Kapplinger JD et al.
Journal of Cardiovascular Translational Research, 2014
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