This section includes recent publications and research outputs from our teams across the South West genomic Medicine Service. This reflects our work in genomics and related fields, with contributions from our team of experts.
Publications
2025
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1
Myrte Daenen 1, Marguerite Hureaux 2 3, Emma Ashton 4, Francesca Becherucci 5 6, Ian Berry 7, Marcus Benz 8, Anna Bjerre 9, Andrew Buckton 4, Richard Caswell 10, Celia Duff-Farrier 7, Samantha Hayward 11, Joseph Mcallister 12, Anna Moczulska 13, Viviana Palazzo 5, Caroline Platt 14 15, Hitesh Prajapati 12, Moin A Saleem 14, Karl-Peter Schlingmann 16, Telma Francisco 17, Marcin Zaniew 18, Francesco Emma 19, Detlef Bockenhauer 1 20
Nephrol Dial Transplant
2025 Aug 1;40(8):1531-1537. doi: 10.1093/ndt/gfaf01 (PMID: 39837581)
2024
A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure
Felicity Beal, Natalie Forrester, Elizabeth Watson, Maggie Williams, Andrew Buckton, Matko Marlais, Andrew Maxted; UK Gene Panel Study Group; Adrian S Woolf, Moin A Saleem, Caroline Platt.
J Nephrol. 2024 Jun;37(5):1273-1284. doi: 10.1007/s40620-024-01964-1. Epub 2024 Jun 5 (PMID: 38837003)
Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility
Asha Anand, Vivek Shenoy, Richard W. Sutherland, Caroline Platt, Clara C. Hildebrandt
American Journal of Medical Genetics. 2024. May https://doi.org/10.1002/ajmg.a.63526
2023
A novel likely pathogenic CLCN5 variant in Dent’s disease
S Hayward 1 2, J Norton 3, L Bownass 4, C Platt 5; Genomics England Research Consortium; H Campbell 2, E Watson 3, N Forrester 3, S Smithson 4, A Menon 6
BMC Nephrol
. 2023 Aug 28;24(1):256. doi: 10.1186/s12882-023-03292-1. (PMID: 37641036)