Associated Papers
Cardiomyopathies, heart rhythm and conduction disorders as phenotypic manifestation of genetic variants in large cohort of cardiac patients: results of whole-genome study.
Rimskaya EM et al.
Gene, 2026
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Jeong HE et al.
Scientific Reports, 2025
Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.
Šukys M et al.
International Journal of Molecular Sciences, 2025
A case of hypertrophic cardiomyopathy presenting with high-degree atrioventricular block.
Gu Y et al.
Medicine, 2025
Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.
Chung H et al.
Korean Circulation Journal, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort.
Santos ES et al.
Genes, 2025
Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.
Žebrauskienė D et al.
Genes, 2025
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.
Yang Z et al.
Npj Genomic Medicine, 2025
MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy: A case report and review of literature.
Hong Y et al.
World Journal of Clinical Cases, 2025
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
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
Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population.
Lee DPH et al.
Frontiers in Genetics, 2025
Association of Multiple Nonhypertrophic Cardiomyopathy-Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy.
Hiruma T et al.
Jacc. Heart Failure, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Dilated cardiomyopathy mutation in beta-cardiac myosin enhances actin activation of the power stroke and phosphate release.
Bodt SML et al.
Pnas Nexus, 2024
Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.
Lee S et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young-FGF-21 Highly Associated with Overt Disease.
Österberg AW et al.
Journal of Cardiovascular Development and Disease, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.
Cianci V et al.
International Journal of Molecular Sciences, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
Dilated cardiomyopathy mutation in beta-cardiac myosin enhances actin activation of the power stroke and phosphate release.
Bodt SML et al.
Biorxiv : the Preprint Server for Biology, 2023
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 2023
Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.
Glavaški M et al.
Medicina (kaunas, Lithuania), 2023
[The levels of certain circulating microRNAs in hypertrophic cardiomyopathy are associated with echocardiographic parameters].
Pisklova MV et al.
Terapevticheskii Arkhiv, 2023
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ et al.
Nature Communications, 2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader I et al.
Orphanet Journal of Rare Diseases, 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
Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.
Kawana M et al.
Frontiers in Physiology, 2022
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.
Chung H et al.
Cardiovascular Ultrasound, 2021
Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.
Li X et al.
Frontiers in Cardiovascular Medicine, 2021
Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults-The Value of Reevaluating and Expanding Gene Panel Analyses.
Fernlund E et al.
Genes, 2020
Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.
Alessi CE et al.
Journal of Clinical Neuromuscular Disease, 2020
The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin.
Sarkar SS et al.
Science Advances, 2020
The mesa trail and the interacting heads motif of myosin II.
Woodhead JL et al.
Archives of Biochemistry and Biophysics, 2020
Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.
Vera CD et al.
The Journal of Biological Chemistry, 2019
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Sanford EF et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, 2019