Scientific Publications
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Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.
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Editorial on biomarkers
The reputation of CENTOGENE’s scientists is reflected by membership in several editorial boards. In a corresponding Editorial for the newly launched Journal of Biochemical and Clinical Genetics, CEO […]
Utility of a CENTOGENE-developed biomarker
Metabolic biomarkers are well-accepted diagnostic tools, and may also qualify for monitoring purposes. The longitudinal dynamics of Lyso-Gb1, an established diagnostic biomarker for Gaucher disease […]
Genotype Phenotype Correlation in a New Fabry-Disease-Causing Mutation
The interpretation of missense variants in a disease context is challenging, especially for variants that have never been reported before. In metabolic disorders, the potential of biochemical […]
Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping
Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE. In addition, these well-established tools are increasingly being […]
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 […]
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 […]
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 […]
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 […]