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Scientific Publications

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.

Genetic Causes for Late Onset Neuropathy

Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic […]

Article
Nov 02, 2020
  • Neurology
  • WES
  • Mutation Database
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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 […]

Article
Oct 12, 2020
  • WES
  • WGS
  • Mutation Database
  • Neurology
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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, […]

Article
Oct 05, 2020
  • Neurology
  • NGS
  • WES
  • Mutation Database
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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 […]

Article
Oct 04, 2020
  • WES
  • WGS
  • Mutation Database
  • Nephrology
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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 […]

Article
Sep 25, 2020
  • WES
  • WGS
  • Mutation Database
  • Neurology
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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 […]

Article
Sep 19, 2020
  • NGS
  • WES
  • WGS
  • Mutation Database
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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 […]

Article
Sep 10, 2020
  • Mutation Database
  • WES
  • WGS
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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 […]

Article
Sep 09, 2020
  • Neurology
  • Cardiovascular
  • WGS
  • Mutation Database
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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 […]

Article
Sep 07, 2020
  • Neurology
  • Mutation Database
  • WES
  • WGS
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