Scientific Publications
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RNA-Seq as the Next Step in Genetic Diagnostics
Experience the power of multiomic diagnostics: We have implemented RNA-seq using the same dried blood spot sample provided for genomic testing. This streamlined approach enhances our routine […]
Elucidating the Mechanisms That Underlies Genetic Parkinson’s Disease
The mechanisms by which GBA1 mutations cause Parkinson’s Disease (PD) are incompletely understood. Supported by the Michael J Fox Foundation, CENTOGENE generated corresponding insights for an unusual […]
Two Distinct Disorders Resulting From Mutations in One Gene
Mutations in a given gene are usually associated with a single genetic disorder. Combined analysis of published case reports and data from CENTOGENE’s uniquely large database revealed that the NTRK2 […]
Better Understanding of a Novel Form of Monogenic Parkinson’s Disease
The link between the RAB32 gene and Parkinson’s Disease (PD) has been established only recently; it is not yet fully understood. CENTOGENE’s researchers thus analyzed relevant data from the company’s […]
Pilot Observations From a Large Genetic Screening Study
Comprehensive understanding of a rare disorder requires the identification of a large number of patients. CENTOGENE has been running a pertinent screening study for Hereditary Transthyretin-Related […]
Ultra-Rare Immune Disorder Uncovered
Homeostasis of the immune system is key for human health. Recently, CENTOGENE carried out an analysis of clinical and genetic data from the CENTOGENE Biodatabank, which enabled the identification of […]
An Encyclopedia for Mass Spectrometry Lipidomics
Mass spectrometry (MS) is a state-of-the art technique to identify and quantify lipid species. This study analyzed this tool to pave the way to better research and health outcomes for patients around […]
A Multiomic Approach to Diagnosing Patients and Accelerating Treatments
An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.
Retrospective Diagnosing of Rare Disease Patients
Despite diagnostic exome/genome sequencing, patients remain without a diagnosis when the relevant gene-disease association is not yet known at the time of analysis. CENTOGENE therefore re-evaluates […]