Associated Papers
India-specific cardiogenetic aspects: focus on Cardiomyopathies and Inherited Arrhythmia Syndromes.
Chockalingam P et al.
Indian Pacing and Electrophysiology Journal, 2026
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 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
From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.
Garcia-Ruano AB et al.
Journal of Cardiovascular Development and Disease, 2025
Dissecting cardiovascular disease-associated noncoding genetic variants using human iPSC models.
Dababneh SF et al.
Stem Cell Reports, 2025
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.
Caroselli S et al.
Annals of Laboratory Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy.
Jager J et al.
Stem Cell Research, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 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
Cardiomyopathies: The Role of Non-Coding RNAs.
Carabetta N et al.
Non-coding Rna, 2024
Impact of Genetic Testing on the Diagnosis, Management, and Prognosis of Hypertrophic Cardiomyopathy: A Systematic Review.
McBenedict B et al.
Cureus, 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
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
Earle NJ et al.
Circulation. Heart Failure, 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
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.
Singer ES et al.
Npj Genomic 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
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.
Joy G et al.
Circulation, 2023
Cardiac splicing as a diagnostic and therapeutic target.
Gotthardt M et al.
Nature Reviews. Cardiology, 2023
Mechanisms of Sarcomere Protein Mutation-Induced Cardiomyopathies.
Barefield DY et al.
Current Cardiology Reports, 2023
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy.
Szulik MW et al.
Genes, 2023
The role of noncoding genetic variants in cardiomyopathy.
Htet M et al.
Frontiers in Cardiovascular Medicine, 2023
Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.
Chumakova OS et al.
Frontiers in Cardiovascular Medicine, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Computational prediction of human deep intronic variation.
Barbosa P et al.
Gigascience, 2022
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Torrado M et al.
Scientific Reports, 2022
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.
Smith E et al.
Journal of the American Heart Association, 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
Preveden A et al.
Medicina (kaunas, Lithuania), 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3.
Holliday M et al.
Circulation. Genomic and Precision Medicine, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy.
Butters A et al.
Circulation. Heart Failure, 2021
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Harper AR et al.
Nature Genetics, 2021
South Asian-Specific MYBPC3 Δ25bp Deletion Carriers Display Hypercontraction and Impaired Diastolic Function Under Exercise Stress.
Bazrafshan S et al.
Frontiers in Cardiovascular Medicine, 2021
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
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.
Harper AR et al.
Circulation. Genomic and Precision Medicine, 2020
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.
Lopes LR et al.
Circulation. Genomic and Precision Medicine, 2020
South Asian-Specific MYBPC3Δ25bp Intronic Deletion and Its Role in Cardiomyopathies and Heart Failure.
Sadayappan S et al.
Circulation. Genomic and Precision Medicine, 2020
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.
Bagnall RD et al.
Journal of the American College of Cardiology, 2018
Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy.
Chiswell K et al.
Progress in Cardiovascular Diseases, 0