Browsing Faculty of Health and Life Sciences by Author "Wakeling, MN"

Now showing items 1-6 of 6

    Issue DateTitleAuthor(s)
    11 April 2024Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements  Laver, TW; Wakeling, MN; Caswell, RC; et al.
    27 January 2023Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP  Perera, LA; Hattersley, AT; Harding, HP; et al.
    4 November 2022Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism  Wakeling, MN; Owens, NDL; Hopkinson, JR; et al.
    16 November 2023Primate-specific ZNF808 is essential for pancreatic development in humans  De Franco, E; Owens, NDL; Montaser, H; et al.
    4 December 2023REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants  Hopkins, JJ; Wakeling, MN; Johnson, MB; et al.
    28 August 2023The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus  Russ-Silsby, J; Patel, KA; Laver, TW; et al.