Author

Jasmin J. Hopkins

University of ExeterORCID 0000-0002-5094-9148Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Matthew Neil WakelingiD· 4 shared Sarah Elizabeth FlanaganiD· 4 shared Thomas William LaveriD· 4 shared Jayne HoughtoniD· 3 shared Matthew B. JohnsoniD· 3 shared Nick D. L. OwensiD· 3 shared Andrew Tym HattersleyiD· 2 shared Indraneel BanerjeeiD· 2 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Matthew Neil WakelingORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism

Jasmin J. Bennett, Hazem Ibrahim, Jonna M. E. Männistö, Martina Timonen, Jessica R. Hopkinson, Jonna Saarimäki‐Vire, Michaelis Vasiliadis, M. Muhamad, Cécile Saint‐Martin, Jean‐Baptiste Arnoux, Orla M. Neylon, Julie Okiro, Jayne Houghton, Matthew Neil Wakeling, Thomas William Laver, , Sarah Elizabeth Flanagan

This study identifies a 94-bp deletion in the SLC16A1 promoter causing hyperinsulinism by increasing MCT1 expression and triggering inappropriate insulin secretion during physical activity.

medRxiv · Dec 18, 2025 · PreprintGenetic & Genomic Medicine

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of FOXA2

Thomas William Laver, Matthew Neil Wakeling, Richard C. Caswell, Benjamin Bunce, Daphne Yau, Jonna M. E. Männistö, Jayne Houghton, Jasmin J. Hopkins, Michael N. Weedon, Vrinda Saraff, Melanie Kershaw, Engela Magdalena Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, , Sarah Elizabeth Flanagan

The paper identifies chromosome 20p11.2 deletions as a cause of congenital hyperinsulinism by disrupting FOXA2 expression in pancreatic beta-cells.

European Journal of Human Genetics · Apr 11, 2024Peer-reviewedGenetic & Genomic Medicine

REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variants

Jasmin J. Hopkins, Matthew Neil Wakeling, Matthew B. Johnson, Sarah Elizabeth Flanagan, Thomas William Laver

The paper evaluates REVEL's performance in predicting pathogenicity of loss-of-function and gain-of-function variants, finding it better at predicting pathogenicity for loss-of-function variants.

Human Mutation · Dec 4, 2023Peer-reviewedGenetic & Genomic Medicine

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, Matthew B. Johnson, Jayne Houghton, Antonia Dastamani, Christine S. Flaxman, Rebecca C. Wyatt, Thomas I. Hewat, Jasmin J. Hopkins, Thomas William Laver, Rachel van Heugten, Michael N. Weedon, Elisa De Franco, Kashyap Amratlal Patel, , 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.

Nature Genetics · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine