Author

Sara Johnson

Huntsman Cancer InstituteORCID 0000-0001-8796-1549Unclaimed ORCID profile · follow to get notified of new preprints

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Sara Johnson1 paper · Curtin University

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

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2020-2020 · peak 1/yr

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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

GeneticsClinical GeneticsPeer-reviewedMay 18, 2020

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

Bryony A. Thompson, Angela K. Snow, Cathryn Koptiuch…·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.

18 citations

humanwhole-exome sequencing

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