Author

Marina Antelo

Children's Health Ireland at CrumlinORCID 0000-0002-4371-3129Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 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

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