Author

Liam Scott

The University of MelbourneORCID 0009-0000-1874-4161Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Haloom RafehiiD· 2 shared Katja LohmanniD· 2 shared Martin Bruce DelatyckiiD· 2 shared Melanie BahloiD· 2 shared Paul J. LockhartiD· 2 shared Abhishek Malhotra· 1 shared Alison E. GardneriD· 1 shared Brent L. FogeliD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Haloom RafehiORCID

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2 papers

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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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedDec 8, 2022

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Haloom Rafehi, Justin L. Read, David J. Szmulewicz…·Paul J. Lockhart

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

175 citationstop 1%

humanwhole-genome sequencing

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