PublicationThis 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.
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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.
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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.
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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.
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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.
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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.
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Here we report OS-Seq, a targeted resequencing approach that involves capturing and sequencing genomic targets on a sequencer’s solid-phase support, such as the Illumina flow cell, thereby overcoming many of the limitations encountered in targeted resequencing of human normal and cancer genomes.
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