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Scientific Publications

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.

An Encyclopedia for Mass Spectrometry Lipidomics

Mass spectrometry (MS) is a state-of-the art technique to identify and quantify lipid species. This study analyzed this tool to pave the way to better research and health outcomes for patients around […]

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A Multiomic Approach to Diagnosing Patients and Accelerating Treatments

An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.

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Retrospective Diagnosing of Rare Disease Patients

Despite diagnostic exome/genome sequencing, patients remain without a diagnosis when the relevant gene-disease association is not yet known at the time of analysis. CENTOGENE therefore re-evaluates […]

Article
Jun 09, 2022
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Broader Applicability of Rare Disease Biomarker

Biomarkers have the potential to serve numerous purposes (diagnosis, prognosis, monitoring, etc.) when well-characterized in large cohorts of patients and controls. Building on its rich source of […]

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Innovative Treatment of a Severe Disease

Exploratory innovative treatments are often pursued and justified in diseases that are associated with fatal outcomes in early childhood. CENTOGENE is proud to have contributed to a pertinent success […]

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In-Depth Characterization of a Novel Disease

Establishing a novel gene-disease link has immediate diagnostic implications, while therapeutic considerations require functional insights beyond genotype and phenotype. CENTOGENE researchers […]

Article
Jun 06, 2022
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Contributions to WGS Guidelines for Rare Disease Diagnostics

Proper genetic diagnostics relies on up-to-date guidelines. These have recently been revised for Whole Genome Sequencing (WGS) by a panel of European experts. CENTOGENE’s Chief Genomic and Medical […]

Article
May 16, 2022
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Increasing Disease Insights by Describing Large Patient Cohorts

A deep understanding of a specific rare disorder is usually hampered by the small size of available patient cohorts. CENTOGENE was able to leverage its Biodatabank to overcome this obstacle for […]

Article
May 03, 2022
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Novel Genotype-Phenotype Association with Wide-Ranging Implications

Cystic fibrosis (CF) is the most prevalent autosomal recessive genetic disorder; it has been assumed to be genetically homogeneous. Researchers at CENTOGENE, however, have now identified a second CF […]

Article
Dec 24, 2021
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