Author

Catherine Mercer

University Hospital Southampton NHS Foundation TrustORCID 0000-0002-4566-8042Unclaimed 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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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abhijit DixitiD· 1 shared Ajoy Sarkar· 1 shared Alistair T. PagnamentaiD· 1 shared Andrew R. WoodiD· 1 shared Cassandra L. SmithiD· 1 shared Catherine Fielden· 1 shared Charles J Shaw-Smith· 1 shared Christopher J. KershawiD· 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

Abhijit DixitORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJun 2, 2025

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Susan Walker, David J. Bunyan, Huw B. Thomas…·Alistair T. Pagnamenta

The paper identifies non-canonical FBN1 splice variants in undiagnosed Marfan syndrome families using genome sequencing and RNA testing, finding 20 candidate variants with significant enrichment in FTAAD cases.

6 citations

humanwhole-genome sequencing

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