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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.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 disease diagnosis

September 24, 2021

Publication This study in pediatric epilepsy published in PLOS ONE supports the value of early genetic testing as a tool for making an accurate and an early diagnosis in children.

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.

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.

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…

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.

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.

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