Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
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
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Chanavat V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
Girolami F et al.
Journal of the American College of Cardiology, 2010
Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.
Di Donna P et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
Kaski JP et al.
Circulation. Cardiovascular Genetics, 2009
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
Olivotto I et al.
Mayo Clinic Proceedings, 2008
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA et al.
Open Heart, 0