Author

Irma van de Beek

University of MünsterORCID 0000-0003-1021-171XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Assay:protein structure· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrew Green· 1 shared Annelore Van Der KeleniD· 1 shared Arjan C. HouwelingiD· 1 shared Ashwin Ramdien· 1 shared Carli M. Tops· 1 shared Claire PallesiD· 1 shared Davy CatsiD· 1 shared Diantha TerlouwiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew Green

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedJul 18, 2025

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

Noah C. Helderman, Ting Yang, Claire Palles…·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.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintJun 1, 2022

Evaluation of folliculin detection by immunohistochemistry in Birt-Hogg-Dube associated kidney tumors

Iris E. Glykofridis, Irma van de Beek, Wim Vos…·Rob M.F. Wolthuis

This study evaluates four commercial anti-FLCN antibodies for immunohistochemistry in BHD-associated kidney tumors but finds none are reliably effective for routine diagnostic use.

1 citation

humanprotein structure

𝕏 PostBluesky