Roberto Perniola

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

Language is primarily a tool for communication rather than thought

The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein

Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy