Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
The genetic landscape of pediatric postural orthostatic tachycardia syndrome.
Qu H et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2025
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Jaouadi H et al.
Frontiers in Medicine, 2024
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
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
Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.
Vill K et al.
Journal of Inherited Metabolic Disease, 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
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
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 UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 2015
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
Coto E et al.
The Journal of Molecular Diagnostics : Jmd, 2012
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
García-Castro M et al.
Revista Espanola De Cardiologia, 2009
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
Tsoutsman T et al.
Clinical and Experimental Pharmacology & Physiology, 2008
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H et al.
The New England Journal of Medicine, 2008