Andrea Degasperi

This study identifies RER deficiency as a new DNA repair defect in cancer, detectable through mutational signatures and linked to therapeutic vulnerabilities.

This study identifies BCOR mutations in hiPSCs as a culture-adaptive state causing chromatin, transcriptomic, and proteomic changes, and develops a qPCR assay for detection.

The paper shows HRd is a continuum with functional and mutational heterogeneity, highlighting the need for refined molecular classification for precision interventions.

The paper shows that IDH2, a mitochondrial enzyme, acts as a major antioxidant defense in cardiomyocytes, with its activity compensating for reduced expression in heart failure, and identifies an epigenetic mechanism linking oxidative stress to cardiac function.

This study investigates neurodegeneration in Xeroderma pigmentosum using stem cell-derived neurons, identifying endoplasmic reticulum stress and UPS dysfunction as key factors and developing an early detection assay.

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.