Author

Francesca Faravelli

Istituto Giannina Gaslini

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adele D’AmicoiD· 1 shared Aditi Chawla· 1 shared Aishwarya Dhall· 1 shared Alan H. BeggsiD· 1 shared Alessandro MussaiD· 1 shared Ana Lisa Taylor TavaresiD· 1 shared Andrew David MumfordiD· 1 shared Anette E. SchragiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adele D’AmicoORCID

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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

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Ellen M. McDonagh, Katherine R. Smith, Antonio Rueda Martin, Dimitris Polychronopoulos, Heather Angus‐Leppan, Kailash P. Bhatia, James E. Davison, , Arianna Tucci

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

bioRxiv · Nov 6, 2020 · PreprintGenomics