Scientific Publications
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Expanding the Genetics of Impaired Neurodevelopment
The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired […]
Continuum of ‘Distinct’ Neurodegenerative Disorders
A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner. This suggests that there is actually a continuum of possible pathologies. A recent case report, […]
Novel Genetic Cause for Absence of Kidneys
Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 […]
Characterizing a Rare Disease Through a Global Effort
In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily […]
Recognition of CENTOGENE’s Scientific Expertise
Editorial board members in scientific journals are selected from the most-respected experts in the field, and the request to write an Editorial on a current topic of general interest is truly an […]
Genetics and Pathophysiology of Premature Aging
Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial […]
One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with […]
A Variant-Specific Mutational Effect
A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be […]
Underlining the Diagnostic Superiority of Genome Sequencing
Technological options for genetic diagnostics have evolved rapidly, with genome sequencing (GS) being the latest addition. Evaluating the utility of GS in over 1,000 patients with a wide range of […]