Mariarita Santi

This study creates a longitudinal multiomic atlas of pediatric high-grade glioma, revealing distinct tumor cell states and therapeutic targets not seen in adult glioblastoma.

This study analyzes multi-omic data from gliomas to identify therapeutic escape mechanisms and TME evolution, finding that N-glycosylation classifies tumor grade and immune transcriptome predicts GBM survival.

This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.

The paper introduces OpenPedCan, a harmonized multi-omic dataset of pediatric cancer patients, providing integrated genomic, transcriptomic, and proteomic data for research and clinical applications.

OpenPBTA provides a collaborative platform to genomically characterize 1,074 pediatric brain tumors and 22 cell lines, offering analysis modules and somatic datasets for research and clinical applications.