Author

Laia Bonjoch

Vrije Universiteit BrusselORCID 0000-0002-3351-0037Unclaimed 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· 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 Dineke Westra· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

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

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

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