Centogene’s latest Scientific Publications
Genetic Cause of Impaired Neurodevelopment
Development of the nervous system is a complex process, with NEUROG1 being one out of many…
Exemplifying the High Value of CentoMD®
Rare disease research usually focuses on pathogenic genetic variants. The lack of a…
A Rare Genetic Disease in Which Symptoms Naturally Improve
While most genetic disorders progress from mild to severe, a certain form of muscle…
Genetic Stratification of Patients with Parkinson’s Disease
While Parkinson’s disease (PD) is clinically homogeneous, it can result from a multitude…
Disturbed Growth Signaling Linked to a Novel Disorder
Most studies that report novel gene-disease associations lack functional insights. A…
An Extended Intellectual Disability Phenotype
Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic…
Defective mRNA Translation and Neurodegeneration
Based on their size and inability to renew, nerve cells are highly vulnerable to defects…
Genetic Confirmation to Solidify Expert Clinical Suspicion
Expert physicians are able to clinically recognize even rare congenital conditions. In…
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…
Joining Forces to Understand Ultra-Rare Disorders
Certain genetic disorders are too rare to be investigated in several patients by single…