Scientific Publications
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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 […]
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 […]
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 […]
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 […]
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 […]
Targeting G Protein-Coupled Receptors
Unbiased chemoproteomic profiling of small-molecule interactions with endogenous proteins is important for drug discovery. For meaningful results, all protein classes have to be tractable, including […]
Dyskeratosis Congenita with a Novel Variant in the DKC1 Gene
Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and […]
Quantification of Amino Acids and Peptides
Aqueous two-phase systems (ATPS) occur by the mixture of two polymers or a polymer and an inorganic salt in water. It was shown that not only polymers but also ionic liquids in combination with […]
Recommendations for the Detection and Diagnosis of Niemann-Pick Disease Type C: An Update.
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this […]