Publications Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia October 26, 2021 Publication In this study, patient reports were retrospectively reviewed to assess the diagnostic yield, reported variant characteristics, impact of copy number variation, and performance in prenatal diagnostics of panel tests for variants in genes associated with skeletal dysplasia and growth disorders.
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
Publications Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy June 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 June 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
Publications Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing June 17, 2016 Publication 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. Read more
Publications Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development June 16, 2016 Publication Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. Read more