Scientific Publications
Curious About the Latest Scientific Discoveries?
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.
Discover our Publications
Informing therapeutic decisions in a rare disorder
Therapy for Gaucher disease, a rare metabolic disorder, has been available for almost 30 years, but whether all patients should receive the costly treatment has remained controversial. Upon […]
Optimizing genetic diagnostics in childhood neurological disease
Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent […]
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test
Interpretation of genetic variants as pathogenic or benign strongly benefits from functional investigations. Researchers at CENTOGENE, together with colleagues from Rostock University, have developed […]
Unprecedented insights into an ultra-rare disorder
CENTOGENE’s strategy to provide accurate genetic diagnoses incorporates standardized compilation and curation of clinical observations. Its sample collection platform CentoCard®, in addition, […]
Genetic modifiers in hereditary breast cancer
Age at manifestation varies widely in carriers of cancer susceptibility variants. A recent study involving scientists from CENTOGENE suggested that this phenomenon is partially explained by certain […]
Delineation of a novel neuro-metabolic syndrome
Neurodevelopmental defects are genetically very diverse, and novel corresponding disease genes continue to be discovered. A recent example is the association between PIGB inactivation and a […]
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 […]
Novel neurodevelopmental disorder identified
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for […]
Improved diagnostic options
Large genomic rearrangement mutations are hard to detect by conventional genetic diagnostic approaches, but easily identified by the MLPA technology. For MPS I, a recessive lysosomal storage […]