Author

Cheryl Shoubridge

Adelaide UniversityORCID 0000-0002-0157-3084Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alison E. GardneriD· 1 shared Catherine AshtoniD· 1 shared Eric HaaniD· 1 shared Gavin MonahaniD· 1 shared Gianina RavenscroftiD· 1 shared Haloom RafehiiD· 1 shared Jozef GécziD· 1 shared Kathryn L. FriendiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alison E. GardnerORCID

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1 paper

Recent·Most cited

Duplication within 14q32.13 implicates a chimeric CLMN::SYNE3 RNA transcript in cerebellar ataxia

Thomas M Litster, Robert A. Wilcox, Renée Carroll, Alison E. Gardner, Nazzmer Nazri, Cheryl Shoubridge, Martin Bruce Delatycki, Katja Lohmann, Marc Agzarian, Rafaela Turella Divani, Haloom Rafehi, Liam Scott, Gavin Monahan, Phillipa J. Lamont, Catherine Ashton, , Jozef Gécz

The paper identifies a chimeric CLMN::SYNE3 RNA transcript from a 14q32.13 duplication as the cause of SCA30, a form of cerebellar ataxia, through RNA-Seq and functional studies.

medRxiv · Apr 24, 2026 · PreprintGenetic & Genomic Medicine