Sandra Elfride Staffieri

This study uses spatial transcriptomics to analyze human retinoblastoma, revealing tumor heterogeneity, cell-cell communication networks, and key signaling pathways involved in tumor progression.

The paper identifies genetic variants associated with nanophthalmos in an Australian cohort, linking them to clinical features like axial length and hyperopia.

The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.