Author

Russell Bell

University of Utah

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:variant calling· 1

Frequent Co-Authors

Bryony A. ThompsoniD· 2 shared Deborah Wood NeklasoniD· 2 shared Sean V. TavtigianiD· 2 shared Alex W Stark· 1 shared Alison Fraser· 1 shared Alun ThomasiD· 1 shared Amanda GammoniD· 1 shared Andrew F. OlshaniD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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2 shared papersGenetics

Bryony A. ThompsonORCID

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3 papers

Recent·Most cited

Exome Sequencing for Head and Neck Cancer Predisposition Genes

Yao Yu, Bing Feng, Chun-Pin E. Chang, Russell Bell, Austin Wood, Ryan Bohlender, Erich M. Sturgis, Guojun Li, Andrew F. Olshan, Chien‐Jen Chen, Pei‐Jen Lou, Wan-Lun Hsu, Melissa H. Cessna, Benjamin L. Witt, Deborah Wood Neklason, , Sean V. Tavtigian

This study identifies 27 genes associated with head and neck cancer risk through exome sequencing and finds significant interactions between DNA repair gene variants and cigarette smoking.

medRxiv · Jan 20, 2025 · PreprintGenetic & Genomic Medicine

Resolving the Functional Significance of BRCA1 RING Domain Missense Substitutions

Andrew Paquette, Kayoko Tao, Kathleen A Clark, Alex W Stark, Judith Rosenthal, Angela K Snow, Russell Bell, Bryony A. Thompson, Joshua Unger, Brett A Milash, Lisa Pappas, Jason Gertz, Katherine Elena Varley, Alun Thomas, Ken Boucher, , Sean V Tavtigian

The paper develops and validates a mammalian 2-hybrid assay to classify BRCA1 RING domain missense substitutions, finding 20% are pathogenic and classifying 89% of observed variants.

bioRxiv · Apr 27, 2021 · PreprintGenetics

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

Erin L. Young, Bryony A. Thompson, Deborah Wood Neklason, Angela K. Snow, Matthew A. Firpo, Theresa Louise Werner, Russell Bell, Nykole Sutherland, Ken R. Smith, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh A. Neumayer, , Sean V. Tavtigian

This study tests pancreatic cancer cases for germline variants in HBOC and CRC genes, finding 8.9% and 10.5% of cases carry variants with potential clinical significance.

BMC Cancer · Jun 26, 2018Peer-reviewedGenetics