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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.

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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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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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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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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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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The Importance of Neuronal Membrane Biology

Nerve cells have a uniquely large surface-to-volume ratio, suggesting a central role for proper membrane turnover in these cells. A recent study confirmed this paradigm by showing that a membrane […]

Article
Apr 11, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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