Author

Claire Turner

Royal Devon & Exeter NHS Foundation 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· 4 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 4 Research Focus:differential expression· 2 Assay:whole-exome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:GWAS / association mapping· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew R. WoodiD· 2 shared Charles J Shaw-Smith· 2 shared Emma L. BapleiD· 2 shared Helen Cox· 2 shared John DeaniD· 2 shared Karen Jaqueline LowiD· 2 shared Michael N. WeedoniD· 2 shared Patrick J. MorrisoniD· 2 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrew R. WoodORCID

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Author profile →

5 papers

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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance L. Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah T. Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, , Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

European Journal of Human Genetics · Oct 24, 2024Peer-reviewedGenetic & Genomic Medicine

Genetic association analysis of 269 rare diseases reveals novel aetiologies

Daniel J. Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed A. Al‐Owain, Arnaud P. J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D. Gelb, Paul Brennan, Verity L. Hartill, Julie Harvengt, , Ernest Turro

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

Nature Medicine · Mar 1, 2023Peer-reviewedGenetic & 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

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

Marcus A. Tuke, Katherine S. Ruth, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Samuel E. Jones, Hanieh Yaghootkar, Claire Turner, Mollie E. Donohoe, Antonia M. Brooke, Morag N. Collinson, Rachel M. Freathy, Michael N. Weedon, Timothy M. Frayling, Anna Murray

This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.

Genetics in Medicine · Sep 3, 2018Peer-reviewedGenetics