Author

Julie P. I. Welburn

Washington University in St. LouisORCID 0000-0002-5440-6060Unclaimed 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 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Assay:protein structure· 1 Approach:statistical model· 1

Frequent Co-Authors

Joseph A. MarshiD· 2 shared Thomas Attard· 2 shared Alan BrowniD· 1 shared Alan J. QuigleyiD· 1 shared Alex von KriegsheimiD· 1 shared Alison M. MeynertiD· 1 shared Amelia ShoemarkiD· 1 shared Amjad HoraniiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Joseph A. MarshORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineSciencePeer-reviewedApr 25, 2024

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati…·Pleasantine Mill

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

64 citationstop 1%

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GeneticsPLoS Computational BiologyPeer-reviewedOct 7, 2022

Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations

Thomas Attard, Julie P. I. Welburn, Joseph A. Marsh

The paper investigates tubulin mutations' molecular mechanisms and their phenotypic effects, finding that current computational methods poorly predict their pathogenicity due to dominant-negative and gain-of-function mechanisms.

18 citations

humanprotein structure

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