Roberta Maestro

This study identifies B7-H4 as a site-specific immunotherapy target in small bowel GISTs, showing its upregulation and association with an immunosuppressive tumor microenvironment.

This paper identifies HDAC inhibition as a strategy to overcome resistance to EZH2 inhibitors in INI1-deficient epithelioid sarcoma by restoring H3K27 acetylation and enhancing therapeutic response.

The paper describes EATRIS activities for quality assessment in multi-omics data generation and integration, aiming to support translational medicine through a Multi-Omics Toolbox.

The paper presents whole-genome and whole-exome sequencing datasets from a multi-center, cross-platform study to benchmark NGS technologies and bioinformatics pipelines in cancer genomics.

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.