Author

Roger Pamphlett

The University of SydneyORCID 0000-0003-3326-7273Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew SmithiD· 1 shared Catherine M. SuteriD· 1 shared Daniel S. O’ShaughnessyiD· 1 shared Dominic B. RoweiD· 1 shared Garth A. NicholsoniD· 1 shared Ian P. BlairiD· 1 shared Jan Herman VeldinkiD· 1 shared Joke J.F.A. van VugtiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew SmithORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 13, 2026

Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis

Zoe N. Zussa, Andrew Smith, Joke J.F.A. van Vugt…·Lyndal Henden

This study examines ZFHX3 GGC repeat expansions in ALS and finds no association with disease risk, but identifies diverse repeat motif compositions.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

NeurosciencePLoS ONEPeer-reviewedAug 10, 2017

Monozygotic twin pairs discordant for amyotrophic lateral sclerosis carry both common and unique epigenetic differences relevant to disease

Paul E. Young, Stephen Kum Jew, Michael E. Buckland…·Catherine M. Suter

The paper identifies epigenetic differences in monozygotic twin pairs discordant for ALS, revealing common and unique methylation changes related to neurobiological pathways.

46 citationstop 4%

humanDNA methylation

𝕏 PostBluesky