Author

Richard M. O’Brien

Vanderbilt UniversityORCID 0000-0003-2153-9761Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:deep learning· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:protein sequence· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

AUDREY LUCERNE· 1 shared Chanel M Norphlet· 1 shared Derek P. ClaxtoniD· 1 shared Emily M. HawesiD· 1 shared Margaret H. Rakonick· 1 shared Richard A. SteiniD· 1 shared Shelby A HarrisiD· 1 shared Trisha Sivam· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperBiochemistry

AUDREY LUCERNE

Mutual co-authors in cluster

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1 paper

Recent·Most cited

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a

Richard A. Stein, Emily M. Hawes, Chanel M Norphlet, Margaret H. Rakonick, Shelby A Harris, Trisha Sivam, AUDREY LUCERNE, Valentina R Da Silva, Richard M. O’Brien, Derek P. Claxton

The paper uses AlphaMissense and experimental assays to analyze 78 G6PC1 variants, identifying stability and allosteric modulation as key pathogenic mechanisms.

bioRxiv · Jul 28, 2026 · PreprintBiochemistry