Author

Lorena Travaglini

Bambino Gesù Children's HospitalORCID 0000-0003-0142-6516Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Approach:statistical model· 1

Frequent Co-Authors

Francesco NicitaiD· 2 shared Abbas TafakhoriiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexandre ReymondiD· 1 shared Amanda Peterson· 1 shared Ambrin FatimaiD· 1 shared Anne GregoriD· 1 shared Antonio NovelliiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Francesco NicitaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 14, 2026

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

Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos…·Alexandre Reymond

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

DOI 10.64898/2026.09.24.26361611

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJun 19, 2026

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

Rebecca Fluri, Mireia Coll-Tané, Theresa Brunet…·Anne Gregor

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

DOI 10.1016/j.ajhg.2026.05.012

humanDrosophila

𝕏 PostBluesky