Associated Papers
Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling.
Loiben AM et al.
The Journal of Clinical Investigation, 2026
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: comprehensive insights into pathogenic genes and genotype-phenotype associations.
Hao L et al.
Frontiers in Cell and Developmental Biology, 2026
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
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
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
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants.
Flisikowska T et al.
Journal of Molecular and Cellular Cardiology Plus, 2025
Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy.
Chumakova A et al.
Scientific Reports, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.
Hong Y et al.
World Journal of Cardiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic variations in PTPN11 lead to a recurrent left ventricular outflow tract obstruction phenotype in childhood hypertrophic cardiomyopathy.
Liu S et al.
The Journal of Thoracic and Cardiovascular Surgery, 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
[Correlation between genotype and clinical phenotype in hypertrophic cardiomyopathy families with MYH7-R453C mutation].
Wang Y et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2024
Distinct mechanisms drive divergent phenotypes in hypertrophic and dilated cardiomyopathy-associated TPM1 variants.
Halder SS et al.
The Journal of Clinical Investigation, 2024
Carrying both the heterozygous Myh6-R453C and Tnnt2-R92W mutations aggravate the hypertrophic cardiomyopathy phenotype in mice.
Lu M et al.
Biochemical and Biophysical Research Communications, 2024
Integrative analysis of transcriptome, DNA methylome, and chromatin accessibility reveals candidate therapeutic targets in hypertrophic cardiomyopathy.
Gao J et al.
Protein & Cell, 2024
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
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
Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.
Spudich JA et al.
The Embo Journal, 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
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.
Lopes LR et al.
European Heart Journal, 2024
Gene transfer of human cardiomyopathy β-MyHC mutant R403Q directly alters intact cardiac myocyte calcium homeostasis and causes hyper-contractility.
Herron TJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Patterns of Left Ventricular Remodelling in Children and Young Patients with Hypertrophic Cardiomyopathy.
Monda E et al.
Journal of Clinical Medicine, 2024
MYH7 R453C induced cardiac remodelling via activating TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB signalling pathways.
Wang L et al.
Open Biology, 2024
Myosin inhibitor reverses hypertrophic cardiomyopathy in genotypically diverse pediatric iPSC-cardiomyocytes to mirror variant correction.
Kinnear C et al.
Cell Reports. Medicine, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Myosin-Catalyzed ATP Hydrolysis in the Presence of Disease-Causing Mutations: Mavacamten as a Way to Repair Mechanism.
Chakraborti A et al.
The Journal of Physical Chemistry. B, 2024
Advances in Hypertrophic Cardiomyopathy Disease Modelling Using hiPSC-Derived Cardiomyocytes.
Dababneh S et al.
The Canadian Journal of Cardiology, 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
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024