Publications Relevance of titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy Jun 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…
Publications Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure Nov 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 Sep 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 Sep 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 Sep 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
Publications Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy Jun 17, 2016 Publication As a continuation to Blueprint Genetics recent collaborative studies on genetics of dilated cardiomyopathy (DCM) (Eur Heart J 2015 and PlosOne 2015), we performed meta-analysis of truncating titin variants in DCM. Read more
Publications Prevalence of Titin Truncating Variants in General Population Jun 17, 2016 Publication We carried out systematic analyses of TTN truncating variants (TTNtv) in publicly available reference populations, including, for the first time, data from Exome Aggregation Consortium (ExAC). The goal was to establish more accurate estimate of prevalence of different TTNtv to allow better clinical interpretation of these findings. Read more
