CENTOGENE Scientific Publications Header Articles

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.

Linking Seizures and Amino Acid Homeostasis

Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain […]

Article
Oct 04, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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Combining Genetic Insights and Therapeutic Efforts

The delineation of a novel rare disease is commonly a stand-alone research project. An international consortium, in which CENTOGENE played a major role, showcased how disease discovery can […]

Article
Sep 30, 2021
  • WGS
  • WES
  • Mutation Database
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Working Towards a Better Understanding of Parkinson’s Disease

Detailed characterization of large patient cohorts in a uniform manner is critical for gaining therapeutically relevant insights into rare diseases. CENTOGENE is a major stakeholder in the LIPAD […]

Article
Aug 09, 2021
  • Biomarker
  • Neurology
  • Mutation Database
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Collaborative Discovery of Gene-Disease Associations

The delineation of novel genetic disorders is facilitated by the formation of global research consortia. By actively contributing to collaborative efforts, CENTOGENE has supported dozens of […]

Article
Jul 08, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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Sharing Diagnostic Insights to Support Rare Disease Patients

Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging […]

Article
Jun 23, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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Modifiers of Genetic Disease

Therapeutic strategies for monogenic diseases may be derived from the identification and understanding of disease-modifying factors. Researchers at CENTOGENE have been applying this rather novel […]

Article
May 27, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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A Novel Genetic Cause for Autoinflammation

Genetic inflammatory disorders are quite rare, particularly those presenting with a pathological increase, rather than decrease, of inflammatory activity. A global consortium, of which CENTOGENE was […]

Article
May 20, 2021
  • WES
  • WGS
  • Mutation Database
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Globally Rare – Locally Common

Genetic diseases that are generally rare may still have a high prevalence in certain geographic regions. As a major diagnostic partner for physicians in certain countries, CENTOGENE has been able to […]

Article
May 12, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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Six Novel Gene-Disease Associations

While technology has advanced over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. By performing deep […]

Article
Apr 18, 2021
  • WES
  • WGS
  • Mutation Database
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