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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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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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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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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…
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De novo ITPR1 variants are a cause of early-onset ataxia
We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA).
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Evolution of outcome measures in spinocerebellar ataxias
To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of…
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The first missense pathogenic variant in the KAT6A gene
CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental…