Publications Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients March 15, 2021 Publication The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. In this study, our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world.
Publications Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy February 10, 2021 Publication This study sheds light on the genetic causes of dilated cardiomyopathy by finding a strong link between the nebulin-related anchoring protein gene (NRAP) and autosomal recessive dilated cardiomyopathy. Read more
Publications Relevance of titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy June 26, 2019 Sci Rep. 2019 Mar 11;9(1):4093. doi: 10.1038/s41598-019-39911-x. Abstract Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant… Read more
Publications Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure November 30, 2018 Publication This study provides the first substantial evidence of the JPH2 gene associating with monogenic familial hypertrophic cardiomyopathy (HCM). The study ‘Heterozygous Junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure’ was published recently in PLOS ONE. Read more
Publications Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations September 22, 2016 Publication This study first describes the comprehensive cardiovascular magnetic resonance findings of six individuals with PRKAG2 mutation, known to cause a unique defect of the cardiac cell metabolism with intracellular deposition of glycogen. Read more
Publications The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy September 22, 2016 Publication Patients with the HRAS mutation c.173C>T (p.T58I) might go undiagnosed because of the milder phenotype compared with other mutations causing Costello syndrome. We expand the clinical and molecular picture of the rare HRAS mutation by reporting the first case in Europe and the fourth case in the literature. Read more
Publications Genetic testing and blood biomarkers in paediatric pulmonary hypertension September 22, 2016 Publication This consensus statement reviews the current evidence for the use of genetic diagnostics and use of blood biomarkers in the assessment of paediatric patients with PAH. Read more