Author

Alison E. Gardner

Adelaide UniversityORCID 0009-0009-7321-1697Unclaimed 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

Catherine AshtoniD· 1 shared Cheryl ShoubridgeiD· 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

Catherine AshtonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 24, 2026

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

Thomas M Litster, Robert A. Wilcox, Renée Carroll…·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.

1 citation

humanbulk RNA-seq

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