Publications by authors named "Eleonora Di Venere"
Article Synopsis
- The text discusses the transformation of discovery science into practical biomedical applications, emphasizing the significance of DNA methylation (DNAm) in diagnosing diseases and reducing global health challenges.
- It highlights the progress over nearly a century in using DNAm as a diagnostic tool, particularly in prenatal testing and cancer detection, showcasing its growing standardization in clinical settings.
- The review also covers the potential of DNAm biomarkers for timely intervention and improved outcomes in both prenatal care and cancer diagnosis, alongside an overview of the current market for such biomarkers.
The search for aetiology of Mendelian disorders is traditionally based on the observation of clinical phenotypes and molecular screening of associated genes. However, a disease-specific diagnosis can be challenging. In this study we detail how the combinatorial genomic and epigenomic assessment allowed to find the underlying molecular event of a clinical case that remained misdiagnosed for years.
View Article and Find Full Text PDFThe 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder in humans and is the result of a recurrent 1.
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