Author

Catherine Fielden

North Bristol NHS Trust

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

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 MerceriD· 1 shared Charles J Shaw-Smith· 1 shared Christopher J. KershawiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

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

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

Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael J. Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, , 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.

Genetics in Medicine · Jun 2, 2025Peer-reviewedGenetic & Genomic Medicine