Associated Papers
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 2026
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Jeong HE et al.
Scientific Reports, 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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.
Žebrauskienė D et al.
Genes, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts.
Hirono K et al.
Scientific Reports, 2024
Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.
Ribeiro M et al.
Human Cell, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Exploring the Connection Between Relaxed Myosin States and the Anrep Effect.
Sequeira V et al.
Circulation Research, 2024
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 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
Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.
Glavaški M et al.
Medicina (kaunas, Lithuania), 2023
Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.
Yampolskaya DS et al.
Biochemistry. Biokhimiia, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 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
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report.
Osadnik T et al.
Kardiologia Polska, 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 profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.
Koh J et al.
Blood Advances, 2021
Cardiomyopathic mutations in essential light chain reveal mechanisms regulating the super relaxed state of myosin.
Sitbon YH et al.
The Journal of General Physiology, 2021
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Jung J et al.
Bmc Medical Genomics, 2021
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Osborn DPS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
Ormondroyd E et al.
European Journal of Human Genetics : Ejhg, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Ablation of the N terminus of cardiac essential light chain promotes the super-relaxed state of myosin and counteracts hypercontractility in hypertrophic cardiomyopathy mutant mice.
Sitbon YH et al.
The Febs Journal, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.
Kim HY et al.
Journal of Clinical Medicine, 2020
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Marstrand P et al.
Circulation, 2020
Modeling Hypertrophic Cardiomyopathy: Mechanistic Insights and Pharmacological Intervention.
Mosqueira D et al.
Trends in Molecular Medicine, 2019
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
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.
Ma N et al.
Circulation, 2018
Essential Light Chains of Myosin and Their Role in Functioning of the Myosin Motor.
Logvinova DS et al.
Biochemistry. Biokhimiia, 2018
Single cardiac ventricular myosins are autonomous motors.
Wang Y et al.
Open Biology, 2018
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.
Broendberg AK et al.
European Journal of Human Genetics : Ejhg, 2018
A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
Rani DS et al.
Cardiology, 2018