Claudia Fiorini

This study shows lentiviral HSPC gene therapy can reverse Pompe disease symptoms in mice by correcting muscle and neurological issues.

This study shows that SUPT5H mutations disrupt RNA polymerase II pausing, delaying erythroid differentiation and cell cycle progression in human cells.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.