Author

Edmund Cheesman

Royal Manchester Children's HospitalORCID 0000-0003-4742-388XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ana Tangari· 1 shared Andrew Tym HattersleyiD· 1 shared Antonia DastamaniiD· 1 shared Birgit M. Rami-MerhariD· 1 shared Catarina LimbertiD· 1 shared Charles F. VergeiD· 1 shared Christine S. FlaxmaniD· 1 shared Elisa De FrancoiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Tangari

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedNov 1, 2022

A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1

Matthew Neil Wakeling, Nick D. L. Owens, Jessica R. Hopkinson…·Sarah Elizabeth Flanagan

The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.

66 citationstop 1%

humanbulk RNA-seq

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