Associated Papers
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
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
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
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
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
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 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
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
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
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC et al.
American Journal of Human Genetics, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K et al.
European Journal of Human Genetics : Ejhg, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
BRG1 is a biomarker of hypertrophic cardiomyopathy in human heart specimens.
Scherba JC 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
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
Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
Preveden A et al.
Medicina (kaunas, Lithuania), 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
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Replication Stress Response Modifies Sarcomeric Cardiomyopathy Remodeling.
Pal S et al.
Journal of the American Heart Association, 2021
Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV et al.
Human Mutation, 2021
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C et al.
The Journal of Biological Chemistry, 2021
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 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
Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.
de Feria AE et al.
Open Heart, 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
Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C.
Pricolo MR et al.
Journal of Cardiovascular Translational Research, 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