Author

Gavin Ryan

Birmingham Women's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:ATAC-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:proteomics· 1 Approach:statistical model· 1 Organism:yeast· 1

Frequent Co-Authors

Alberto Fernández‐JaéniD· 1 shared Alexandra AfenjariD· 1 shared Aliza Imam· 1 shared Amy E. Crunk· 1 shared Ange‐Line BrueliD· 1 shared Angeline Preto· 1 shared Anirudh Saronwala· 1 shared Anna Kristina BjerreiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Alberto Fernández‐JaénORCID

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2 papers

Recent·Most cited

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

James Lambton, Shotaro Asano, Yuxiang Huang, Fumi Suomi, Tomoya Eguchi, Cassidy Petree, Kevin Huang, Magali Prigent, Aliza Imam, Thomas J. McCorvie, Daniel Warren, Emma Hobson, Helen McCullagh, Doriana Misceo, Anna Kristina Bjerre, , Robert William Taylor

The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.

The American Journal of Human Genetics · Mar 26, 2026Peer-reviewedGenetic & Genomic Medicine

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc, Angeline Preto, Justine Rousseau, Jade Charbonneau, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Estelle Colin, Bertrand Isidor, Sophie Nambot, Desiree DeMille, Pınar Bayrak‐Toydemir, Nicola Longo, , Philippe M. Campeau

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

bioRxiv · Jan 19, 2026 · PreprintGenetics