Author

Geert R. Mortier

Universitair Ziekenhuis LeuvenORCID 0000-0001-9871-4578Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:scRNA-seq· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aimé Zola LumakaiD· 1 shared Aleksandr MironoviD· 1 shared Anna NicolaouiD· 1 shared Annelies DheedeneiD· 1 shared Antony D. AdamsoniD· 1 shared Baroni Maria Chiara· 1 shared Beyltjens Tessi· 1 shared Björn MenteniD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimé Zola LumakaORCID

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2 papers

Recent·Most cited

Cell BiologyOsteoarthritis and CartilagePeer-reviewedFeb 4, 2026

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

Woods Jon S, Nicola Bates, Stuart A. Cain…·Susan J. Kimber

This study uses hPSCs to model MED with MATN3 mutations, revealing altered matrix organisation and upregulated cholesterol biosynthesis pathway.

DOI 10.1016/j.joca.2026.01.633

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Genetic & Genomic MedicinemedRxivPreprintOct 18, 2025

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

Mathilde Geysens, Erika L. Souche, Baroni Maria Chiara…·Joris Robert Vermeesch

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

1 citation

humanwhole-exome sequencing

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