Author

Silvia Torchio

Vita-Salute San Raffaele UniversityPrimary ORCID profile (0000-0001-9908-2904 · 1 paper)Unclaimed ORCID profile · follow to get notified of new preprints

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Silvia TorchioiD1 paper · Vita-Salute San Raffaele University

Biology Disciplines

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Genetics· 1

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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Fabio ManentiiD· 1 shared Federica CuozzoiD· 1 shared Gabriel SiracusanoiD· 1 shared Giorgio CasariiD· 1 shared Giulio FrontinoiD· 1 shared Greta Rossi· 1 shared Laura Monaco· 1 shared Lorenzo PiemontiiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Fabio ManentiORCID

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1 paper

Recent·Most cited

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on β cell apoptosis in a patient with Wolfram syndrome.

Raniero Chimienti, Silvia Torchio, Gabriel Siracusano, Valentina Zamarian, Laura Monaco, Marta Tiffany Lombardo, Silvia Pellegrini, Fabio Manenti, Federica Cuozzo, Greta Rossi, Paola Carrera, Valeria Sordi, Vania Broccoli, Riccardo Bonfanti, Giorgio Casari, , Lorenzo Piemonti

This study investigates how a WFS1 splice site mutation affects β cell apoptosis in Wolfram syndrome by analyzing alternative splicing and functional consequences in patient-derived iPSCs.

bioRxiv · Dec 29, 2023 · PreprintGenetics