Marie Macnee

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

CNV-ClinViewer provides a web tool for clinical interpretation of large copy-number variants by integrating patient and population data with biomedical annotations.

This study examines the relationship between soluble TREM2 and inflammatory markers in young adults with Down syndrome compared to neurotypical controls, finding elevated sTREM2 and positive correlations with cytokines in DS.