Author

Dineke Westra

Leiden University Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 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 Ashwin Ramdien· 1 shared Carli M. Tops· 1 shared Claire PallesiD· 1 shared Davy CatsiD· 1 shared Diantha TerlouwiD· 1 shared Frank TüttelmanniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew Green

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1 paper

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