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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.

A Multiomic Approach to Diagnosing Patients and Accelerating Treatments

An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.

Article
Jun 22, 2022
  • Metabolic Disorders
  • Multiomics
  • Biomarker
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Defining the Clinical Spectrum of Rare Disorders

Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the […]

Article
Oct 16, 2021
  • NGS
  • Neurology
  • Cardiovascular
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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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An Innovative Approach for Biomarker Discovery

Some genetic disorders, including hereditary angioedema (HAE), do not manifest chronically, but by unpredictable attacks. CENTOGENE has developed a protocol for the collection of patient samples […]

Article
Sep 28, 2021
  • Biomarker
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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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Biomarker-Based Monitoring of Treatment Efficacy

The value of most metabolic biomarkers is restricted to diagnostic settings. A few biomarkers, however, can also be used to monitor treatment efficacy. A recent study published in the Journal of […]

Article
Jul 18, 2021
  • Biomarker
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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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COVID-19 and Parkinson’s Disease

As one of the company’s priority diseases, CENTOGENE is continuously carrying out research into the causes of Parkinson’s disease (PD). A recurrent observation has been a temporal link of the […]

Article
Jul 02, 2021
  • Neurology
  • Covid-19 Testing
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