Author

Silvana Briuglia

University of MessinaORCID 0000-0002-5213-441XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alice GoldenbergiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antonio NovelliiD· 1 shared Antonio VitobelloiD· 1 shared Ben Molloy· 1 shared Carlo MarcelisiD· 1 shared Emanuele AgoliniiD· 1 shared François LecoquierreiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice GoldenbergORCID

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1 paper

Recent·Most cited

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen Mary Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Sophie Julia, Johannes R. Lemke, , Konrad Platzer

The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.

European Journal of Human Genetics · Dec 23, 2022Peer-reviewedGenetic & Genomic Medicine