Author

Mary O’Driscoll

Birmingham Women’s and Children’s NHS Foundation TrustORCID 0000-0002-7119-7571Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Evan ReidiD· 2 shared Alan DonaldsoniD· 1 shared Alejandro SifrimiD· 1 shared Alex C. Magee· 1 shared Alexander T HoiD· 1 shared Alison Hills· 1 shared Alison Ross· 1 shared Alistair T. PagnamentaiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Evan ReidORCID

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Author profile →

2 papers

Recent·Most cited

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

Jenny Lord, Alistair T. Pagnamenta, Letizia Vestito, S.P. WALKER, Carolina Jaramillo Oquendo, Anthony McGuigan, Alexander T Ho, Christopher A. Odhams, Julius O.B. Jacobsen, Sarju Mehta, Evan Reid, Mary O’Driscoll, Christopher M Watson, Laura A. Crinnion, Rachel L. Robinson, , Diana Baralle

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

medRxiv · Mar 23, 2026 · PreprintGenetic & Genomic Medicine

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia A. Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Deciphering Developmental Disorders Study, Silvia Borras, Caroline Clark, , Therese Bradley

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

Nature Communications · Jan 27, 2021Peer-reviewedGenetic & Genomic Medicine