Science & Education
Scientific articles
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Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA‐related Parkinson's disease
Parkinson’s disease (PD) and Gaucher disease are amongst the primary research foci at Centogene. As both conditions may be caused by mutations in the GBA gene, a common pathomechanism is widely assumed. Based on a…
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Utility and implications of exome sequencing in early-onset Parkinson's disease.
Although the genetic load is high in early-onset Parkinson’s disease, thorough investigation of the genetic diagnostic yield has yet to be established. The objectives of this study were to assess variants in known genes…
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Development of an Evidence-Based Algorithm that Optimizes Sensitivity and Specificity in ES-Based Diagnostics of a Clinically Heterogeneous Patient Population
Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying NGS and Sanger…
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Confirmation of ACER3-Related Recessive Neurodegeneration
Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.
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Novel Clinical and Genetic Insights into Dysfunction of the ASC-1 Complex
The transcriptional coactivator ASC-1 complex is composed of four subunits ASC-1 (TRIP4), ASCC1 (ASCC1), ASCC2 (ASCC2) and ASCC3 (ASCC3). Read more about novel clinical and genetic insights into dysfunction of the ASC-1…
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Association of Hydrocephalus and Renal Dysplasia
Read more about our recent findings in association of hydrocephalus and renal dysplasia with a homozygous DLG5 frameshit variant in an alternatively spliced exon.
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HTRA2 Defect: a Recognizable Inborn Error of Metabolism
Neonatal-onset movement disorders, especially in combination with seizures, are rare and often related to mitochondrial disorders. 3-methylglutaconic aciduria (3-MGA-uria) is a marker for mitochondrial dysfunction. In…
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Evidence-Based Algorithm in ES-Based Diagnostics
Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying NGS and Sanger…
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A Variant in NUDT2 Causes a Recessive Neurodevelopmental Disorder
A recent study on 337 patients with various forms of intellectual disability proposed the homozygous nonsense variant c.34C>T (p.Arg12*) in NUDT2 to underlie global developmental delay in 2 affected sisters.
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Rapid Intravenous Enzyme Infusion
In the latest issue of American Journal of Hematology, we have published results of recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from…