Author

Ryan Mooney

Huntsman Cancer InstituteORCID 0000-0002-5401-0891Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Angela K. SnowiD· 1 shared Bing FengiD· 1 shared Bryony A. ThompsoniD· 1 shared Cathryn Koptiuch· 1 shared Chad Daniel HuffiD· 1 shared Craig Carl TeerlinkiD· 1 shared Deborah Wood NeklasoniD· 1 shared Lisa Cannon‐AlbrightiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Angela K. SnowORCID

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1 paper

Recent·Most cited

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

Bryony A. Thompson, Angela K. Snow, Cathryn Koptiuch, Wendy K. Kohlmann, Ryan Mooney, Sara Johnson, Chad Daniel Huff, Yao Yu, Craig Carl Teerlink, Bing Feng, Deborah Wood Neklason, Lisa Cannon‐Albright, Sean V. Tavtigian

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.

Clinical Genetics · May 18, 2020Peer-reviewedGenetics