Kathleen M. Giacomini

This study uses proteomic profiling to identify age-related changes in transporter proteins in human brain microvessels, revealing alterations in BBB permeability and drug disposition.

The paper uses synthetic multiplexing to annotate uncharacterized metabolites, identifying ibuprofen-carnitine as a metabolite linked to muscle toxicity.

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

GenEpi detects gene-based epistasis using machine learning, outperforming existing methods on simulated data and identifying disease-related variants in Alzheimer's disease.