Author

Frederik Jan Hes

Vrije Universiteit BrusselORCID 0000-0002-3025-0882Unclaimed 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:statistical model· 2 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Diantha TerlouwiD· 2 shared Maartje NielseniD· 2 shared Tom van WezeliD· 2 shared Alexandra M. J. LangersiD· 1 shared Andrew Green· 1 shared Anja WagneriD· 1 shared Annelore Van Der KeleniD· 1 shared Arjen R. MensenkampiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Diantha TerlouwORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

Noah C. Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Ruben H.P. Vorderman, Davy Cats, Marcos Díaz‐Gay, Marjolijn C.J. Jongmans, Ashwin Ramdien, MCM8-MCM9 study group, Mariano Golubicki, Marina Antelo, Laia Bonjoch, Mariona Terradas, , Margot Julia Wyrwoll

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

Human Genetics and Genomics Advances · Jul 18, 2025Peer-reviewedGenetic & Genomic Medicine

Prevalence and consequences of APC mosaicism in patients with colorectal adenomas

Diantha Terlouw, Manon Suerink, Yentl Buitelaar, Monique Esther van Leerdam, Frederik Jan Hes, Demi van Egmond, Dina Ruano, Anja Wagner, Floris H. Groenendijk, Isabelle C. Meijssen, Eline Overwater, Sanne W. ten Broeke, Arjen R. Mensenkamp, Iris D Nagtegaal, Carli M.J. Tops, , Maartje Nielsen

The paper identifies APC mosaicism in patients with colorectal adenomas, finds higher prevalence in those meeting hereditary polyposis guidelines, and recommends targeted testing and surveillance.

medRxiv · Feb 18, 2025 · PreprintGenetic & Genomic Medicine