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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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 […]
Diagnostic Relevance of Intronic Variants
Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very diverse, the effects of variants in them are not easy to predict. By combining CENTOGENE’s genetic testing […]
Exemplifying the Strengths of Genome Sequencing
Certain genetic variants are easily missed by Exome Sequencing (ES), but readily detected by Genome Sequencing (GS). Utilizing the superiority of the latter technology, CENTOGENE identified such a […]
Utilization of CentoMD® in Scientific Settings
The interpretation of newly observed genetic variants that are suspected to cause disease requires knowledge about their occurrence in different populations. CENTOGENE’s uniquely rich and diverse […]
A Rare Genetic Disease in Which Symptoms Naturally Improve
While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a […]
Disturbed Growth Signaling Linked to a Novel Disorder
Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a […]
Defective mRNA Translation and Neurodegeneration
Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers […]
A Case Report with High Scientific Value
The value of a case report can be correlated with the rarity of the disorder it covers. A recent paper, which was triggered by a genetic diagnosis issued at CENTOGENE, is of rather high value in this […]
Expanding the Genetics of Impaired Neurodevelopment
The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired […]