Author

Sylvia Keigwin

Sheffield Children's HospitalORCID 0000-0001-8366-9655Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alistair T. PagnamentaiD· 1 shared Caroline Fiona WrightiD· 1 shared Duncan BakeriD· 1 shared Emma L. BapleiD· 1 shared James FashamiD· 1 shared Leigh M. JacksoniD· 1 shared Meena BalasubramanianiD· 1 shared Robin N. BeaumontiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alistair T. PagnamentaORCID

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1 paper

Recent·Most cited

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

Alistair T. Pagnamenta, James Fasham, Robin N. Beaumont, Duncan Baker, Sylvia Keigwin, Tim Hall, Emma L. Baple, Meena Balasubramanian, Leigh M. Jackson, Caroline Fiona Wright

The paper analyzes genome sequencing data from UK Biobank to assess the penetrance of COL1A1/2 pathogenic variants in OI, finding lower penetrance than expected.

European Journal of Human Genetics · May 12, 2026Peer-reviewedGenetic & Genomic Medicine