Author

Joseph J. B. Cockburn

University of LeedsORCID 0000-0003-4730-1436Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:CRISPR screen· 1 Approach:deep learning· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:protein structure· 1 Research Focus:protein structure prediction· 1

Frequent Co-Authors

Colin A. JohnsoniD· 2 shared James A. PoulteriD· 1 shared John Edward LadburyiD· 1 shared Kathrin BurgmaieriD· 1 shared Max C. LiebauiD· 1 shared Michelle PeckhamiD· 1 shared Naveen Mathew· 1 shared Rowan D. TayloriD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 20 mutual co-author links

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2 shared papersCell Biology

Colin A. JohnsonORCID

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2 papers

Recent·Most cited

Cell BiologybioRxivPreprintOct 20, 2026

Structural modelling predicts that fibrocystin destabilisation is a pathogenic cause of ARPKD

Travis Bannell, Naveen Mathew, Kathrin Burgmaier…·Joseph J. B. Cockburn

The paper uses structural modeling to show that fibrocystin destabilization due to PKHD1 missense mutations is a key pathogenic mechanism in ARPKD, suggesting stabilization as a therapeutic target.

DOI 10.64898/2026.10.19.758525

humanprotein structure

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 3, 2022

The role of alternative splicing in CEP290-related disease pathogenesis

Rowan D. Taylor, James A. Poulter, Joseph J. B. Cockburn…·Colin A. Johnson

This study investigates how alternative splicing, specifically nonsense-associated altered splicing (NAS), affects the pathogenesis of CEP290-related ciliopathies by analyzing splicing patterns and ciliogenesis in induced pluripotent stem cells.

3 citations

humanCRISPR screen

𝕏 PostBluesky