Author

Alicia Alonso‐Jiménez

Antwerp University HospitalORCID 0000-0002-2200-9255Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

Alice Monticelli· 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

Alice Monticelli

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 1, 2026

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

Liedewei Van de Vondel, Riccardo Curró, Stefano Facchini…·Andrea Cortese

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

1 citation

humanwhole-genome sequencing

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedSep 25, 2025

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

Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli…·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.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky