Author

Phil E M Smith

University Hospital of WalesORCID 0000-0003-4250-2562Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam T. HigginsiD· 1 shared Ann J. Johnston· 1 shared Fiona Wang· 1 shared Jeya Natarajan· 1 shared Johann te Water Naudé· 1 shared Khalid HamandiiD· 1 shared Mark I. ReesiD· 1 shared Mary ChebibiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam T. HigginsORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 5, 2025

A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns

Adam T. Higgins, Fiona Wang, William Owen Pickrell…·Seo‐Kyung Chung

This paper identifies a synonymous SLC2A1 variant causing GLUT1-DS through mosaic splicing, leading to variable haploinsufficiency and phenotypic diversity.

DOI 10.1101/2025.04.05.25325007

humanbulk RNA-seq

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