Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.
Ryu SW et al.
Cardiovascular Diagnosis and Therapy, 2025
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 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
Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.
Hong Y et al.
World Journal of Cardiology, 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
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Patterns of Left Ventricular Remodelling in Children and Young Patients with Hypertrophic Cardiomyopathy.
Monda E et al.
Journal of Clinical Medicine, 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
Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Friedman CE et al.
Circulation. Genomic and Precision Medicine, 2024
Current perspectives of sudden cardiac death management in hypertrophic cardiomyopathy.
Pu L et al.
Heart Failure Reviews, 2024
High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients.
Chen X et al.
American Heart Journal, 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
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.
Singer ES et al.
Npj Genomic Medicine, 2023
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y et al.
Circulation. Genomic and Precision Medicine, 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
Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.
Koshy L et al.
The Indian Journal of Medical Research, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
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
AQUA Mutant Protein Quantification of Endomyocardial Biopsy-Sized Samples From a Patient With Hypertrophic Cardiomyopathy.
Becker E et al.
Frontiers in Cardiovascular Medicine, 2022
Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.
Shen H et al.
Frontiers in Cardiovascular Medicine, 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
Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.
Trachoo O et al.
Plos One, 2022
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 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
Modelling genetic diseases for drug development: Hypertrophic cardiomyopathy.
Santini L et al.
Pharmacological Research, 2020
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
Magrì D et al.
Journal of Clinical Medicine, 2020
Investigation of de novo variation in pediatric cardiomyopathy.
Parrott A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.
Lee SH et al.
Cancers, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh R et al.
Genome Medicine, 2019
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
Lu C et al.
Journal of Translational Medicine, 2018
Perspectives on current recommendations for genetic testing in HCM.
Monserrat L
Global Cardiology Science & Practice, 2018
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Ceyhan-Birsoy O et al.
Human Mutation, 2018