Author

Milena Mariani

Azienda Socio Sanitaria Territoriale LarianaORCID 0000-0002-7446-7418Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:Drosophila· 2 Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Organism:human· 1 Assay:imaging· 1 Organism:mouse· 1

Frequent Co-Authors

Maria Rosaria IasconeiD· 2 shared Aı́da ZuluetaiD· 1 shared Alden Yen-Wen Huang· 1 shared Angelo SelicorniiD· 1 shared Anna CeredaiD· 1 shared Annelise Yoo Mah-SomiD· 1 shared Annick Raas‐RothschildiD· 1 shared Boris KereniD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Maria Rosaria IasconeORCID

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2 papers

Recent·Most cited

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Yue Huang, Kristy L. Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V. Jangam, Odelia Chorin, Annick Raas‐Rothschild, Ortal Barel, Milena Mariani, Maria Rosaria Iascone, Han Xue, Undiagnosed Diseases Network, Jing Yang Huang, Cyril Mignot, Boris Keren, , Julián A. Martínez-Agosto

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

bioRxiv · Feb 6, 2024 · PreprintGenetics

Lithium ameliorates Cornelia de Lange syndrome associated phenotypes in experimental models

Paolo Grazioli, Chiara Parodi, Milena Mariani, Daniele Bottai, Elisabetta Di Fede, Aı́da Zulueta, Laura Avagliano, Anna Cereda, Romano Tenconi, Jolanta Wierzba, Raffaella Adami, Maria Rosaria Iascone, Paola Francesca Ajmone, Thomas Vaccari, Cristina Gervasini, , Valentina Massa

This study investigates the effects of lithium on CdLS phenotypes in experimental models, showing rescue of brain and behavioral abnormalities through WNT pathway activation.

bioRxiv · Jul 15, 2020 · PreprintGenetics