Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.
Šukys M et al.
International Journal of Molecular Sciences, 2025
Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.
Silajdzija E et al.
Journal of the American Heart Association, 2025
Generation of induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant with variable degrees of hypertrophic cardiomyopathy.
van den Dolder FW et al.
Stem Cell Research, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Murphy J et al.
Irish Journal of Medical Science, 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
Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.
Ananthamohan K et al.
The Journal of Cardiovascular Aging, 2024
Human Genetics of Ventricular Septal Defect.
Perrot A et al.
Advances in Experimental Medicine and Biology, 2024
Characterization of heterozygous and homozygous mouse models with the most common hypertrophic cardiomyopathy mutation MYBPC3c.2373InsG in the Netherlands.
Hilderink S et al.
Journal of Molecular and Cellular Cardiology, 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
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M et al.
International Journal of Molecular Sciences, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 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
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status.
Jansen M et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Analysis of laboratory reporting practices using a quality assessment of a virtual patient.
Vears DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.
Schuldt M et al.
Circulation. Heart Failure, 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
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS et al.
Circulation. Genomic and Precision Medicine, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Mutation-specific pathology and treatment of hypertrophic cardiomyopathy in patients, mouse models and human engineered heart tissue.
Wijnker PJM et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
A Contraction Stress Model of Hypertrophic Cardiomyopathy due to Sarcomere Mutations.
Cohn R et al.
Stem Cell Reports, 2019
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
Burns C et al.
Circulation. Cardiovascular Genetics, 2017
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
Fourey D et al.
Circulation. Cardiovascular Genetics, 2017
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Chanavat V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Alfares AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
Wessels MW et al.
European Journal of Human Genetics : Ejhg, 2015
Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy.
Gruner C et al.
European Heart Journal, 2014
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
Miller EM et al.
Journal of Genetic Counseling, 2013
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
Jääskeläinen P et al.
Annals of Medicine, 2013
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
Gruner C et al.
Circulation. Cardiovascular Genetics, 2011
A novel custom resequencing array for dilated cardiomyopathy.
Zimmerman RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA et al.
Open Heart, 0