Author

Catherine Ashton

Montreal Neurological Institute and HospitalORCID 0000-0001-8042-6180Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:long-read sequencing· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Gianina RavenscroftiD· 3 shared André NussenzweigiD· 2 shared Céline BonnetiD· 2 shared David PelleriniD· 2 shared Gabriel E. Matos-RodriguesiD· 2 shared Guinevere Spurdens· 2 shared Henry HouldeniD· 2 shared Ira W. DevesoniD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Gianina RavenscroftORCID

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3 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 MedicineBrainPeer-reviewedOct 7, 2024

Somatic instability of the FGF14-SCA27B GAA·TTC repeat reveals a marked expansion bias in the cerebellum

David Pellerin, Jean‐Loup Méreaux, Susana Boluda…·Bernard Brais

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

23 citationstop 5%

humanlong-read sequencing

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GeneticsNature GeneticsPeer-reviewedJun 27, 2024

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse…·Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

43 citationstop 2%

humanlong-read sequencing

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