Author

Alice Monticelli

University of Antwerp

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alicia Alonso‐JiméneziD· 2 shared Jonathan BaetsiD· 2 shared Jonathan De WinteriD· 2 shared Liedewei Van de VondeliD· 2 shared Willem De RidderiD· 2 shared Alessandro BertiniiD· 1 shared Alexander HoischeniD· 1 shared Andrea CorteseiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alicia Alonso‐JiménezORCID

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2 papers

Recent·Most cited

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

Liedewei Van de Vondel, Riccardo Curró, Stefano Facchini, Isaac R. L. Xu, Jonathan De Winter, Ilaria Quartesan, Alice Monticelli, Alicia Alonso‐Jiménez, Willem De Ridder, Alessandro Bertini, Gustavo Alves, Francesca Pizzuto, Hermione Ugolini, David Pellerin, Tim De Pooter, , Andrea Cortese

The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.

medRxiv · Apr 1, 2026 · PreprintGenetic & Genomic Medicine

A Heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy

Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, Natacha Camacho, Tine Deconinck, Katrien Janssens, Goedele Malfroid, Alicia Alonso‐Jiménez, German M. Demidov, Steven Laurie, Willem De Ridder, Biljana Ermanoska, Vincent Timmerman, Jonathan Baets

This study identifies a heterozygous 9q34 deletion involving SPTAN1 as a cause of distal myopathy, showing age-dependent effects and highlighting CNV detection in exome sequencing for diagnosis.

European Journal of Human Genetics · Sep 25, 2025Peer-reviewedGenetic & Genomic Medicine