Author

L. Hughes

Birmingham Women’s and Children’s 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 Immunology· 1 Physiology· 1 Plant Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 4 Approach:benchmark study· 3 Research Focus:cell type annotation· 3 Approach:experimental assay· 3 Organism:human· 3 Research Focus:database / resource· 2 Approach:statistical model· 2 Organism:Arabidopsis· 1

Frequent Co-Authors

Alice GarrettiD· 4 shared Alison CallawayiD· 4 shared Bethan A. Frugtniet· 4 shared Charlie F RowlandsiD· 4 shared Clare TurnbulliD· 4 shared Elizabeth Johnston· 4 shared George J. BurgheliD· 4 shared Helen HansoniD· 4 shared

Activity by Year

2017-2026 · peak 4/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Alice GarrettORCID

Mutual co-authors in cluster

Author profile →

7 papers

Recent·Most cited

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network

Alice Garrett, Sophie Allen, Charlie F Rowlands, Subin Choi, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, L. Hughes, , CanVIG-UK

CanVIG-UK evaluates the impact of its activities on variant interpretation in cancer susceptibility genes through a survey, showing high utility and usage of its consensus recommendations.

Journal of Medical Genetics · Jul 15, 2026Peer-reviewedGenetic & Genomic Medicine

Clinical validation of large-scale functional assays: insights from 2,120 gene-truthset-assay evaluations

Sophie Allen, Charlie F Rowlands, Zeid Kuzbari, Alice Garrett, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Elizabeth Johnston, Trudi McDevitt, , Cancer Variant Interpretation Group UK (CanVIG-UK)

The paper evaluates how different truthset strategies affect evidence points (EPs) in clinical validation of functional assays across 2,120 gene-truthset-assay combinations.

medRxiv · Jul 14, 2026 · PreprintGenetic & Genomic Medicine

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)

Sophie Allen, Charlie F Rowlands, Alice Garrett, Zeid Kuzbari, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Elizabeth Johnston, Trudi McDevitt, , Cancer Variant Interpretation Group UK (CanVIG-UK)

The paper establishes consensus guidelines for constructing truthsets to validate functional assays in cancer variant interpretation, focusing on missense variants and clinical validation frameworks.

medRxiv · Jul 13, 2026 · PreprintGenetic & Genomic Medicine

CanVar-UK: an online data platform supporting collaborative diagnostic interpretation of germline variants in cancer susceptibility genes

Charlie F Rowlands, Subin Choi, Sophie Allen, Zeid Kuzbari, Cankut Çubuk, Răzvan Sultana, Bethany Torr, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, , CanVIG-UK

CanVar-UK is a web platform that supports collaborative interpretation of germline variants in cancer susceptibility genes by integrating variant data, clinical information, and expert discussions.

medRxiv · Mar 25, 2026 · PreprintGenetic & Genomic Medicine

No sex differences in oxygen uptake or extraction kinetics in the moderate or heavy exercise intensity domains

M. Solleiro Pons, L. Bernert, E. Hume, L. Hughes, Z. Williams, M. Burnley, P. Ansdell

bioRxiv · Jun 26, 2023Physiology

Dynamic changes in innate immune and T cell function and composition at the nasal mucosa across the human lifespan

J. Reine, B. F. Carniel, C. Solorzano, E. Mitsi, S. Pojar, E. Nikolau, E. L. German, A. D. Hyder-Wright, H. Hill, C. Hales, L. Brown, V. Horsley, L. Hughes, S. Zaidi, V. Connor, , S. P. Jochems

This study examines age-related changes in nasal mucosal immune composition and function, finding reduced granulocytes and T cells in young children and older adults, and links pneumococcal colonization to inflammation.

bioRxiv · Mar 14, 2019 · PreprintImmunology

The Odd One Out: Arabidopsis Reticulon 20 Has A Role In Lipid Biosynthesis

V. Kriechbaumer, L. Maneta-Peyret, S. W. Botchway, J. Upson, L. Hughes, J. Richardson, M. Kittelmann, P. Moreau, C. Hawes

This study identifies Arabidopsis reticulon 20 as involved in lipid biosynthesis based on its unique ER localization and altered sterol composition in mutants.

bioRxiv · Apr 7, 2017Plant Biology