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Prevalence and characteristics of RPGR ORF15 variants in patients with inherited retinal dystrophies

August 30, 2019

Pathogenic variants in RPGR account for 80% of cases with X-linked retinitis pigmentosa (XLRP). The C-terminal 567-aa exon ORF15 is a mutational hotspot for RPGR-associated retinitis pigmentosa. However, it generally performs poorly in standard sequencing-based assays due to a highly repetitive glutamic acid/glycine-rich sequence.

Accurately resolving copy number variation in highly homologous SMN1 and SMN2 genes using next generation sequencing and rhPCR

June 06, 2019

We established an accurate and high-throughput approach to test for SMN1 and SMN2 copy numbers in blood and saliva samples enabling diagnostics of SMA and application of novel therapeutic strategies.

Clinical utility of NGS panel testing in patients with a clinical suspicion of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

June 06, 2019

In this study a total of 134 patients with clinical suspicion of CPVT send for targeted panel testing either using Blueprint Genetics CPVT Panel or Arrhythmia Panel over a 5-year period were analyzed.

Diagnostic yield of genetic testing in an unselected cohort of 1,376 HCM patients

June 06, 2019

We describe the diagnostic findings and variables significantly affecting the genetic testing yield in a heterogeneous HCM patient cohort.

A WES based panel assay with boosted clinical content generates a high diagnostic yield in patients with IEDs

May 09, 2019

We developed and validated a robust WES based genetic testing platform, with boosted clinical content tailored to inherited eye diseases (IEDs), and assessed the diagnostic yield of this assay in a large cohort of patients with IED.

Improved Mapping Quality and Coverage in Highly Homologous PKD1 Gene Enable High Diagnostic Yield in ADPKD

April 04, 2019

Research We evaluated the diagnostic yield and performance of our in-house tailored Polycystic Kidney Disease and Cystic Kidney Disease Panels.

JPH2 p.(Thr161Lys) is a Finnish founder mutation associating to hypertrophic cardiomyopathy with or without systolic heart failure and conduction abnormalities

November 30, 2018

Research The role of the JPH2 gene in cardiomyopathies has been obscure as only one rare variant segregating with any type of cardiomyopathy has been published (Sabater-Molina M et al., Clin Genet. 2016). This study characterizes the cardiac phenotype related to JPH2 c.482C>A, p.(Thr161Lys) variant in nine Finnish index patients and their family members.

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