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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A Novel Neurodevelopmental Disorder
Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe […]
Frequent Genetic Cause of Seizures Identified
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH […]
Understanding DNA Alterations in Colorectal Cancer
Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While CENTOGENE’s routine diagnostic focus is on the former, we frequently address oncological questions in research […]
Characterization of an Ultra-Rare Disorder
Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease […]
An Unorthodox Disease Mechanism
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A […]
Disease relevance of alternative splicing
Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by […]
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 […]
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 […]