Author

Mariano Golubicki

Princess Máxima CenterORCID 0000-0002-3773-8581Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Andrew Green

Mutual co-authors in cluster

Author profile →

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