Author

Alexandra Boyling

The University of SydneyORCID 0009-0006-6138-5137Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Neuroscience· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Assay:bulk RNA-seq· 1 Organism:C. elegans· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Anthony N. CutrupiiD· 2 shared Garth A. NicholsoniD· 2 shared Marina L. KennersoniD· 2 shared Steve VuciciD· 2 shared Ben CrossettiD· 1 shared Bianca Rose GrosziD· 1 shared Brent NeumanniD· 1 shared D. LiiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersNeuroscience

Anthony N. CutrupiORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

NeuroscienceHuman MutationPeer-reviewedJan 1, 2026

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression

Alexandra Boyling, Anthony N. Cutrupi, D. Li…·Marina L. Kennerson

The paper identifies a 78-kb insertion in the CMTX3 locus that causes spatiotemporal dysregulation of SOX3 expression in neuronal differentiation.

DOI 10.1155/humu/4225263

humanbulk RNA-seq

𝕏 PostBluesky

NeurosciencebioRxivPreprintAug 16, 2022

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration.

Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Pérez‐Siles…·Marina L. Kennerson

The paper identifies a novel gene-intergenic fusion in UBE3C causing dHMN and demonstrates its pathogenic effects using patient-derived models and a C. elegans transgenic system.

DOI 10.1101/2022.08.16.504208

humanC. elegans

𝕏 PostBluesky