Author

Dinesh Giri

Bristol Royal Hospital for ChildrenORCID 0000-0001-8129-1978Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ana Tangari Saredo· 1 shared Benjamin Bunce· 1 shared Daphne YauiD· 1 shared Engela Magdalena HoneyiD· 1 shared Indraneel BanerjeeiD· 1 shared Jasmin J. HopkinsiD· 1 shared Jayne HoughtoniD· 1 shared Jonna M. E. MännistöiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Tangari Saredo

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1 paper

Recent·Most cited

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