Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.
Lv C et al.
Nature Communications, 2025
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
Earle NJ et al.
Circulation. Heart Failure, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 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
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
Cannatà A et al.
Jama Cardiology, 2022
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
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.
de Feria AE et al.
Open Heart, 2021
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 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
Structural implications of β-cardiac myosin heavy chain mutations in human disease.
Colegrave M et al.
Anatomical Record (hoboken, N.j. : 2007), 2014
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease.
Charron P et al.
Expert Review of Molecular Diagnostics, 2006
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
Song L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004
Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.
García-Castro M et al.
Clinical Chemistry, 2003
DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.
Smart RV et al.
Clinical Genetics, 1996
The molecular genetics of hypertrophic cardiomyopathy.
Elstein E
Current Opinion in Cardiology, 1995
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
Rayment I et al.
Proceedings of the National Academy of Sciences of the United States of America, 1995
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Millat G et al.
European Journal of Medical Genetics, 0