Author

Yael Goldberg

Rabin Medical CenterORCID 0000-0002-9855-9472Unclaimed 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:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Claire PallesiD· 2 shared Richarda M. de VoeriD· 2 shared Roland P. KuiperiD· 2 shared Tom van WezeliD· 2 shared Aleksandar J DimovskiiD· 1 shared Andrea SottorivaiD· 1 shared Andreas J GruberiD· 1 shared Andrés Dacal Rivas· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Claire PallesORCID

Mutual co-authors in cluster

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2 papers

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

Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

Claire Palles, Edward Chew, Judith E. Grolleman, Sara Galavotti, Christoffer Flensburg, Erik A. M. Jansen, Helen M. Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Ashish R. Bajel, Kitty Sherwood, Lynn M. Martin, Huw J. W. Thomas, Demetra Georgiou, Florentia Fostira, , Richarda M. de Voer

bioRxiv · Apr 27, 2021 · PreprintGenetics