Author

Tim Hall

University of ExeterORCID 0009-0003-8548-447XUnclaimed 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· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 2 shared Emma L. BapleiD· 2 shared James FashamiD· 2 shared Leigh M. JacksoniD· 2 shared Alistair T. PagnamentaiD· 1 shared Duncan BakeriD· 1 shared Helen HansoniD· 1 shared Isabella-Anna Lazaridi· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Caroline Fiona WrightORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedSep 18, 2026

Prevalence and Penetrance of Heritable Retinoblastoma in Two Adult Population Cohorts: Implications for genomic newborn screening

Isabella-Anna Lazaridi, Timothy S. Hall, Helen Hanson…·Leigh M. Jackson

This study estimates the prevalence and penetrance of heritable retinoblastoma in adult cohorts using genomic data and health records, finding lower penetrance than clinical cohorts.

DOI 10.1038/s41431-026-02231-6

humanwhole-genome sequencing

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMay 12, 2026

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…·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.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky