Associated Papers
Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts.
Chumakova OS et al.
Journal of Clinical Medicine, 2025
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 2023
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.
Oktay V et al.
Anatolian Journal of Cardiology, 2023
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
[The levels of certain circulating microRNAs in hypertrophic cardiomyopathy are associated with echocardiographic parameters].
Pisklova MV et al.
Terapevticheskii Arkhiv, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
Gruner C et al.
Circulation. Cardiovascular Genetics, 2011
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
Tsoutsman T et al.
Clinical and Experimental Pharmacology & Physiology, 2008
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
Perrot A et al.
Journal of Molecular Medicine (berlin, Germany), 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