Scientific Publications
Curious About the Latest Scientific Discoveries?
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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High scientific value of CentoMD®
Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s […]
Extension of rare disease therapeutic options
Treatment options for rare genetic diseases are often tested in cellular or animal models. CENTOGENE happily supports such projects in collaborative research settings. A recent example relates to a […]
Novel disease gene discovered
The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A […]
Optimization of diagnostic yield
The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A […]
Utility of a CENTOGENE-developed biomarker
Metabolic biomarkers are well-accepted diagnostic tools, and may also qualify for monitoring purposes. The longitudinal dynamics of Lyso-Gb1, an established diagnostic biomarker for Gaucher disease […]
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
Disease expressivity varies widely in many genetic disorders, and identifying the underlying modifiers holds great translational potential. Based on its resources as regards technologies and samples, […]
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Major problems with rare diseases are related to the paucity and the heterogeneity of scientific publications. Standardized large-scale data compilation is one approach to overcome these issues. […]
Genotype Phenotype Correlation in a New Fabry-Disease-Causing Mutation
The interpretation of missense variants in a disease context is challenging, especially for variants that have never been reported before. In metabolic disorders, the potential of biochemical […]
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism
Disease expressivity varies widely in many genetic disorders, and identifying the underlying modifiers holds great translational potential. Based on its resources as regards technologies and samples, […]