APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variantsSalvatore Daniele Bianco, Tommaso Mazza, Massimo Carella et al.|Nature Communications|2023Cited by 36
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variantsAgnese Giovannetti, Viviana Caputo, Salvatore Daniele Bianco et al.|Human Mutation|2022Cited by 2
Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databasesEleonora Gaetani, Tommaso Mazza, Agnese Giovannetti et al.|Journal of Thrombosis and Haemostasis|2026Cited by 1
nAPOGEE: A machine-learning platform for clinically actionable pathogenicity assessment of all mitochondrial noncoding variantsSalvatore Daniele Bianco, Agnese Giovannetti, Marta Adinolfi et al.|bioRxiv (Cold Spring Harbor Laboratory)|2025Cited by 0