Scientific Publications
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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.
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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 […]
Recognition of CENTOGENE's Scientific Expertise
Review articles constitute a unique type of scientific publication, as they summarize, rather than present, observations and interpretations. In prestigious journals, they are commonly provided by […]
Turning Rare Disease Networks into Knowledge
CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE […]
Genetic Stratification of Patients with Parkinson’s Disease
While Parkinson’s disease (PD) is clinically homogeneous, it can result from a multitude of genetic and non-genetic causes. Stratifying PD patients accordingly is of utmost importance for focused […]
Genetic Confirmation to Solidify Expert Clinical Suspicion
Expert physicians are able to clinically recognize even rare congenital conditions. In saying that, CENTOGENE still advises targeted genetic follow-up aimed at confirming the suspicion, as well as […]
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, […]
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 […]
A Potential Link Between COVID-19 and Parkinson’s Disease
The potential consequences of a SARS-CoV-2 infection are only beginning to be understood. A recent case report, involving research carried out at CENTOGENE, describes a patient experiencing rapidly […]
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 […]