Author

Stefania Colafati

Bambino Gesù Children's Hospital

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

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Abbas TafakhoriiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexandre ReymondiD· 1 shared Ambrin FatimaiD· 1 shared Caitlin Lawson· 1 shared Caterina CevallosiD· 1 shared Catherine Vincent‐DelormeiD· 1 shared Christelle GolzioiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abbas TafakhoriORCID

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1 paper

Recent·Most cited

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos, Francesca Mattioli, Jacqueline Chrast, Sissy Bassani, Hossein Darvish, Ginevra Zanni, Stefania Colafati, Lorena Travaglini, Francesco Nicita, Shivarajan Manickavasagam Amudhavalli, Caitlin Lawson, Joseph G. Gleeson, Isabella Stuewe, , Alexandre Reymond

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

medRxiv · Oct 14, 2026 · PreprintGenetic & Genomic Medicine