Author

Serena Baratto

Istituto Giannina GasliniORCID 0000-0002-4633-4933Unclaimed 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· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1

Frequent Co-Authors

Chiara FiorilloiD· 2 shared Claudio BrunoiD· 2 shared Federico ZaraiD· 2 shared Gianina RavenscroftiD· 2 shared Monica TraversoiD· 2 shared Adele D’AmicoiD· 1 shared Aishwarya Dhall· 1 shared Alan H. BeggsiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Chiara FiorilloORCID

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2 papers

Recent·Most cited

A comprehensive framework for the interpretation of TTN missense variants

Maria Francesca Di Feo, Martin Rees, Victoria Lillback, Ay Lin Kho, Angelina Meybatova, Mark Holt, Heinz Jungbluth, Francesco Muntoni A, Giovanni Baranello, Anna Sárközy, Chiara Fiorillo, Serena Baratto, Claudio Bruno, Monica Traverso, Michele Iacomino, , Marco Savarese

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

Genome Medicine · Feb 26, 2026Peer-reviewedGenetic & Genomic Medicine

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Lein Dofash, Lee B. Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi, Rita J Serrano, Rachel Templin, Georg Ramm, Alison Rodger, Joel Haywood, Evan Ingley, Joshua S. Clayton, Rhonda L. Taylor, Chiara L Folland, , Gianina Ravenscroft

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

medRxiv · Oct 25, 2023 · PreprintGenetic & Genomic Medicine