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.

This study identifies FLVCR2 as the primary choline transporter at the blood-brain barrier, determines its structures, and elucidates its mechanism of choline uptake.

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.