Associated Papers
Cardiomyopathies, heart rhythm and conduction disorders as phenotypic manifestation of genetic variants in large cohort of cardiac patients: results of whole-genome study.
Rimskaya EM et al.
Gene, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Jeong HE et al.
Scientific Reports, 2025
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
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.
Lv C et al.
Nature Communications, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 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
Neonatal hypertrophic cardiomyopathy with dyspnoea as the first symptom: a case report.
Li X et al.
Frontiers in Pediatrics, 2023
Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.
Boen HM et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2022
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A et al.
Molecular Diagnosis & Therapy, 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
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal DS et al.
Journal of Cardiovascular Development and Disease, 2022
Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report.
Osadnik T et al.
Kardiologia Polska, 2022
Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy.
Pollmann K et al.
Journal of Clinical Medicine, 2021
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Höller V et al.
Genes, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 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
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Patients With Hypertrophic Cardiomyopathy Deemed Genotype Negative Based on Research Grade Genetic Analysis: Time for Repeat Diagnostic Testing With Next-Generation Sequencing.
O'Hare BJ et al.
Circulation. Genomic and Precision Medicine, 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
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.
Luo Q et al.
Scientific Reports, 2020
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
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
Lu C et al.
Journal of Translational Medicine, 2018
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.
Ross SB 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
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.
Forleo C et al.
Plos One, 2017
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Coppini R et al.
Journal of the American College of Cardiology, 2014
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
Kapplinger JD et al.
Journal of Cardiovascular Translational Research, 2014
The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.
Arbustini E et al.
Journal of the American College of Cardiology, 2013
The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation.
Arbustini E et al.
Global Heart, 2013
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
Page SP et al.
Circulation. Cardiovascular Genetics, 2012
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
Theis JL et al.
Circulation. Heart Failure, 2009
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
Olivotto I et al.
Mayo Clinic Proceedings, 2008
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Erdmann J et al.
Clinical Genetics, 2003
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
Erdmann J et al.
Journal of the American College of Cardiology, 2001