Scientific Publications
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Genetic modifiers in hereditary breast cancer
Age at manifestation varies widely in carriers of cancer susceptibility variants. A recent study involving scientists from CENTOGENE suggested that this phenomenon is partially explained by certain […]
Delineation of a novel neuro-metabolic syndrome
Neurodevelopmental defects are genetically very diverse, and novel corresponding disease genes continue to be discovered. A recent example is the association between PIGB inactivation and a […]
Editorial on biomarkers
The reputation of CENTOGENE’s scientists is reflected by membership in several editorial boards. In a corresponding Editorial for the newly launched Journal of Biochemical and Clinical Genetics, CEO […]
Novel neurodevelopmental disorder identified
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for […]
Improved diagnostic options
Large genomic rearrangement mutations are hard to detect by conventional genetic diagnostic approaches, but easily identified by the MLPA technology. For MPS I, a recessive lysosomal storage […]
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 […]