Associated Papers
Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.
Hao L et al.
Frontiers in Cell and Developmental Biology, 2026
Early Cytoskeletal Remodeling Drives Hypertrophic Cardiomyopathy Pathogenesis in MYH6/7 Mutant hiPSC-Derived Cardiomyocytes.
Shameem M et al.
Journal of Cardiovascular Development and Disease, 2025
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.
Piai CB et al.
American Journal of Medical Genetics. Part A, 2025
Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients.
Xing G et al.
Journal of Cardiovascular Development and Disease, 2025
Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.
Rao VJ et al.
Journal of the American Heart Association, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 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
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.
Lindholm ME et al.
Frontiers in Cardiovascular Medicine, 2025
Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population.
Krishnaswamy SM et al.
Journal of Applied Genetics, 2024
Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy.
Harikrishnan S et al.
International Journal of Cardiology, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 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
A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy.
Golubenko MV et al.
Frontiers in Bioscience (scholar Edition), 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Jaouadi H et al.
Frontiers in Medicine, 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
Cryo-EM structure of the folded-back state of human β-cardiac myosin.
Grinzato A et al.
Biorxiv : the Preprint Server for Biology, 2023
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
Liu X et al.
Cell Discovery, 2023
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.
Melas M et al.
Journal of Clinical Medicine, 2022
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A et al.
Molecular Diagnosis & Therapy, 2022
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 2022
Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population.
Ahmad SA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2022
Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
Preveden A et al.
Medicina (kaunas, Lithuania), 2022
Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.
Ušaj M et al.
International Journal of Molecular Sciences, 2022
Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.
Shen C et al.
Annals of Translational Medicine, 2022
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.
Meier AB et al.
Iscience, 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
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.
Nguyen TV et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 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
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Stochastic allelic expression as trigger for contractile imbalance in hypertrophic cardiomyopathy.
Montag J et al.
Biophysical Reviews, 2020
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
Magrì D et al.
Journal of Clinical Medicine, 2020