Scientific Publications
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Novel Genetic Cause for Neurodevelopmental Defects
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling […]
A controversy in Parkinsonism research
Parkinson disease (PD) can be associated with mutations that are usually found in patients with Gaucher disease (GD). Treatment options for GD are therefore considered also for PD, but there are […]
A new biomarker function for a long-known hormone
Adiponectin is a hormone with well-known relevance to cardiac and renal function. As Fabry disease (FD), a rare metabolic disorder, often manifests with cardiac and/or renal symptoms, researchers at […]
Insights into the pathophysiology of Niemann-Pick disease
Lysosomal storage disorders (LSDs) are a central focus of research as performed at CENTOGENE. Characterization of a mouse model for the LSD Niemann-Pick disease suggested that defects in a […]
Disturbed lipid metabolism causes congenital disease
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results […]
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 […]
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 […]
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 […]
High scientific value of CentoMD®
Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s […]