Author

Katrien Janssens

University of AntwerpORCID 0000-0002-3249-731XUnclaimed 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· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Marije E. C. MeuwisseniD· 2 shared Agnar HelgasoniD· 1 shared Aimé Zola LumakaiD· 1 shared Alice Monticelli· 1 shared Alicia Alonso‐JiméneziD· 1 shared Ana S.A. CoheniD· 1 shared Andreina Minicucci· 1 shared Annelies DheedeneiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Marije E. C. MeuwissenORCID

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Author profile →

3 papers

Recent·Most cited

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Ali Alghamdi, Naif A. M. Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogné, Ana S.A. Cohen, Carles De Diego Boguñá, Evan E. Eichler, , Hans Tomas Bjornsson

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

The American Journal of Human Genetics · Sep 1, 2026Peer-reviewedGenetic & Genomic Medicine

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.

Mathilde Geysens, Erika L. Souche, Baroni Maria Chiara, Valérie Benoît, Beyltjens Tessi, Wouter Bossuyt, Vincent Bours, Marian Crabbe, Croes Didier, De Smet Matthias, Julie Désir, Koenraad Devriendt, Annelies Dheedene, Dimitrov Boyan Ivanov, Katrien Janssens, , Joris Robert Vermeesch

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.

medRxiv · Oct 18, 2025 · 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