Associated Papers
Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.
Antheia K et al.
Scientific Reports, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.
Su W et al.
Frontiers in Cardiovascular Medicine, 2025
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
Corrigendum to "Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy". [Volume 49, Issue 1, Part C, January 2024, 102164].
Zhang L et al.
Current Problems in Cardiology, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 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 phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy.
Zhang L et al.
Current Problems in Cardiology, 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 Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.
Oktay V et al.
Anatolian Journal of Cardiology, 2023
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
Liu X et al.
Cell Discovery, 2023
Myosins and MyomiR Network in Patients with Obstructive Hypertrophic Cardiomyopathy.
Foglieni C et al.
Biomedicines, 2022
Patterns of Replacement Fibrosis in Hypertrophic Cardiomyopathy.
Liu J et al.
Radiology, 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
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
A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.
Moriki T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 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
Mitochondrial Energetics and Ca2+-Activated ATPase in Obstructive Hypertrophic Cardiomyopathy.
Lombardi M et al.
Journal of Clinical Medicine, 2020
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Marstrand P et al.
Circulation, 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M et al.
Polish Archives of Internal Medicine, 2020
Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.
Luo Q et al.
Scientific Reports, 2020
Non-invasive prediction of genotype positive-phenotype negative in hypertrophic cardiomyopathy by 3D modern shape analysis.
Piras P et al.
Experimental Physiology, 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh R et al.
Genome Medicine, 2019
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.
Ross SB et al.
Circulation. Cardiovascular Genetics, 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
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.
Bottillo I et al.
Data in Brief, 2016
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
Gómez J et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2014
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
Marsiglia JD et al.
American Heart Journal, 2013
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Stubbs A et al.
Journal of Clinical Bioinformatics, 2012
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
Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.
Curila K et al.
Acta Cardiologica, 2012
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
Fokstuen S et al.
Journal of Medical Genetics, 2011
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
Gruner C et al.
Circulation. Cardiovascular Genetics, 2011
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.
Meder B et al.
Circulation. Cardiovascular Genetics, 2011
Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.
Kimura A
Journal of Human Genetics, 2010
[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese].
Wang H et al.
Zhonghua Yi Xue Za Zhi, 2008