Scientific Publications
Curious About the Latest Scientific Discoveries?
Discover our Publications
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 […]
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 […]
One Gene – Two Modes of Inheritance
While most genetic disorders have one clearly defined mode of inheritance, the existence of rare exceptions is being increasingly recognized. A recent diagnostic finding at CENTOGENE revealed that […]
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 […]
Leveraging the CENTOGENE Biodatabank and Genomic Testing to Discovers Six New Rare Diseases
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 […]
A Genetic Cause for Infectious Disease
While infectious diseases are commonly connected to environmental factors, genetic defects in some genes can strongly increase a person’s susceptibility to infections. Data generated at CENTOGENE […]
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 […]
A Dispute on Rare Disease Diagnostic Offerings
CENTOGENE was amongst the first providers of diagnostic Whole Genome Sequencing (WGS) and published real-life experience with this technology in 2020. That paper was subsequently challenged in a […]
An Unusual Kind of Repeat Expansion Disorder
Repeat expansions are the cause of Huntington’s disease and several forms of ataxia. The affected repeat units are usually three to six nucleotides in length, and pathogenic alleles have accumulated […]