Author

Hannah L. Titheradge

Birmingham Women’s and Children’s NHS Foundation TrustORCID 0000-0003-2111-9943Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1

Frequent Co-Authors

Alberto Fernández‐JaéniD· 1 shared Alexandra AfenjariD· 1 shared Alice E. DavidsoniD· 1 shared Amy E. Crunk· 1 shared Ana Lisa Tavares· 1 shared Andrew G. L. DouglasiD· 1 shared Ange‐Line BrueliD· 1 shared Angeline Preto· 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

Genetic & Genomic MedicinemedRxivPreprintMar 26, 2026

A scalable and equitable framework for target and patient prioritisation in rare disease antisense therapeutics

Ella F. Whittle, Kylie Montgomery, Carme Camps…·Mina Ryten

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

1 citation

statistical modelbenchmark study

𝕏 PostBluesky

GeneticsbioRxivPreprintJan 19, 2026

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc…·Philippe M. Campeau

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

DOI 10.64898/2026.01.15.698931

humanexperimental assay

𝕏 PostBluesky