Author

Donna Duffin

Cardiff and Vale University Health Board

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:benchmarking· 1 Approach:statistical model· 1

Frequent Co-Authors

Boris ChaumetteiD· 1 shared Eva Christina SchulteiD· 1 shared Evangelos VassosiD· 1 shared Gerome D. BreeniD· 1 shared Harriet CulleniD· 1 shared Heiko PalandiD· 1 shared Katherine Louise MuslineriD· 1 shared Kimberley Marie KendalliD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Boris ChaumetteORCID

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1 paper

Recent·Most cited

Recalculated CNV penetrance: what it does and does not change for counselling

Gerome D. Breen, Harriet Cullen, Heiko Paland, Evangelos Vassos, Laura Luisa Kilarski, Mads E. Hauberg, Boris Chaumette, Sergi Papiol, Donna Duffin, Katherine Louise Musliner, Wouter J. Peyrot, Eva Christina Schulte, Kristiina Tammimies, the ENCAP Group, Kimberley Marie Kendall

The paper recalculates CNV penetrance for intellectual disability, showing lower estimates due to methodological differences, and recommends phenotype-specific risk reporting.

medRxiv · Oct 13, 2026 · PreprintGenetic & Genomic Medicine