Associated Papers
Sex- and Exercise-Dependent Modulation of Hypertrophic Remodeling by the MCT1 rs1049434 Polymorphism.
Fernández-Suárez N et al.
Genes, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies - opportunities and open questions. Response.
Martín-Álvarez E et al.
Revista Espanola De Cardiologia (english Ed.), 2024
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 2024
Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy.
Martín-Álvarez E et al.
Revista Espanola De Cardiologia (english Ed.), 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 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
Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.
Yampolskaya DS et al.
Biochemistry. Biokhimiia, 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
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.
Yadav S et al.
Pflugers Archiv : European Journal of Physiology, 2019
Essential Light Chains of Myosin and Their Role in Functioning of the Myosin Motor.
Logvinova DS et al.
Biochemistry. Biokhimiia, 2018
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.
Jay A et al.
Cardiology, 2013
Structural and functional aspects of the myosin essential light chain in cardiac muscle contraction.
Muthu P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H et al.
The New England Journal of Medicine, 2008