Author

Donatella Biancolini

IRCCS Ospedale San RaffaeleORCID 0000-0002-0187-8128Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Dario BonanomiiD· 1 shared Davide CittaroiD· 1 shared Dejan LazareviciD· 1 shared Elia StupkaiD· 1 shared Fabiola Valenza· 1 shared Maria Grazia PatricelliiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetics

Dario BonanomiORCID

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1 paper

Recent·Most cited

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

Fabiola Valenza, Davide Cittaro, Elia Stupka, Donatella Biancolini, Maria Grazia Patricelli, Dario Bonanomi, Dejan Lazarevic

The paper identifies a novel truncating GLI2 variant linked to Culler-Jones syndrome and demonstrates its dominant-negative effect on Hedgehog signaling through functional assays.

PLoS ONE · Jan 10, 2019Peer-reviewedGenetics