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Evaluation of Genetic Testing Platforms for Inherited Retinal Diseases

October 27, 2022

This article from the American Academy of Ophthalmology explores the different genetic testing platforms and evaluates the technologies available to aid in the diagnosis of inherited retinal degenerations (IRDs).

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.

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.

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.

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.

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