Scientific Publications
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Diagnostic Utility of Biomarkers
Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of […]
Novel Insights into a Rare Disorder
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly […]
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 […]
An unusual Gaucher family
A family in which all individuals over two generations suffer from an unexplained phenotype was recently referred to CENTOGENE for diagnostic workup. Comprehensive biochemical and genomic screening […]
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 […]
Fetal exome sequencing in a real world setting
Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce. Based on a series of cases evaluated at CENTOGENE, diagnostic yield of fES was found […]
New genetic cause of severe heart disease
Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible […]
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 […]