Associated Papers
Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.
Hao L et al.
Frontiers in Cell and Developmental Biology, 2026
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
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2025
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.
Choi SH et al.
Nature Genetics, 2025
Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopathy.
Nollet EE et al.
Circulation. Genomic and Precision Medicine, 2024
Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.
Ananthamohan K et al.
The Journal of Cardiovascular Aging, 2024
Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype.
Boen HM et al.
Frontiers in Genetics, 2024
Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients.
Burkart V et al.
Journal of Molecular and Cellular Cardiology, 2023
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO et al.
The New England Journal of Medicine, 2023
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 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
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.
Joy G et al.
Circulation, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.
Tudurachi BS et al.
International Journal of Molecular Sciences, 2023
Mitochondrial dysfunction in human hypertrophic cardiomyopathy is linked to cardiomyocyte architecture disruption and corrected by improving NADH-driven mitochondrial respiration.
Nollet EE et al.
European Heart Journal, 2023
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP et al.
Jama Cardiology, 2022
Transcriptional bursts and heterogeneity among cardiomyocytes in hypertrophic cardiomyopathy.
Burkart V et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Molecular Genetic Basis of Hypertrophic Cardiomyopathy.
Marian AJ
Circulation Research, 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
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.
Pei J et al.
Clinical Epigenetics, 2021
Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report.
Park J et al.
Medicina (kaunas, Lithuania), 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 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
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Pua CJ et al.
Circulation. Genomic and Precision Medicine, 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
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Marstrand P et al.
Circulation, 2020
Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers.
Adalsteinsdottir B et al.
Open Heart, 2020
Sequence variants with large effects on cardiac electrophysiology and disease.
Norland K et al.
Nature Communications, 2019
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
Al-Wakeel-Marquard N et al.
Journal of the American Heart Association, 2019
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathy.
Kraft T et al.
Pflugers Archiv : European Journal of Physiology, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy.
Parbhudayal RY et al.
Journal of Molecular and Cellular Cardiology, 2018
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G et al.
Circulation. Genomic and Precision Medicine, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy.
Gómez J et al.
Revista Espanola De Cardiologia (english Ed.), 2016