Items where authors include "Sayer, J.A."

Article

Cipriani, V. orcid.org/0000-0002-0839-9955, Vestito, L. orcid.org/0000-0003-0008-936X, Magavern, E.F. orcid.org/0000-0003-0699-6411 et al. (58 more authors) (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature. ISSN 0028-0836

Zagorec, N., Calamel, A., Delaporte, M. et al. (24 more authors) (2024) Clinical spectrum and prognosis of atypical autosomal dominant polycystic kidney disease caused by monoallelic pathogenic variants of IFT140. American Journal of Kidney Diseases. ISSN 0272-6386

Wong, K., Pitcher, D., Braddon, F. et al. (299 more authors) (2024) Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort. Kidney International Reports, 9 (7). pp. 2067-2083. ISSN 2468-0249

Wong, K., Pitcher, D., Braddon, F. et al. (299 more authors) (2024) Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of rare kidney diseases cohort. Kidney International Reports, 9 (7). pp. 2067-2083. ISSN 2468-0249

Wong, K., Pitcher, D., Braddon, F. et al. (294 more authors) (2024) Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, 403 (10433). pp. 1279-1289. ISSN 0140-6736

Wong, K., Pitcher, D., Braddon, F. et al. (294 more authors) (2024) Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, 403 (10433). pp. 1279-1289. ISSN 0140-6736

Müller, R.-U., Lianne Messchendorp, A., Birn, H. et al. (20 more authors) (2022) An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International. Kidneys, 11 (1). pp. 37-39. ISSN 2307-1257

Müller, R.-U., Messchendorp, A.L., Birn, H. et al. (20 more authors) (2022) An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International. Nephrology Dialysis Transplantation, 37 (5). pp. 825-839. ISSN 0931-0509

Senum, S.R., Li, Y.S.M., Benson, K.A. et al. (25 more authors) (2022) Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. The American Journal of Human Genetics, 109 (1). pp. 136-156. ISSN 0002-9297

Huynh, V.T., Audrézet, M.-P., Sayer, J.A. et al. (17 more authors) (2020) Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney International, 98 (2). pp. 476-487. ISSN 0085-2538

Al-Hamed, M.H., van Lennep, C., Hynes, A.M. et al. (7 more authors) (2014) Functional modelling of a novel mutation in BBS5. Cilia, 3 (1). p. 3.

Cheng, Y-Z., Eley, L., Hynes, A-M. et al. (6 more authors) (2012) Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome. PLOS ONE, 7 (9). ARTN e44975. ISSN 1932-6203

Simms, R.J., Hynes, A.M., Eley, L. et al. (1 more author) (2011) Nephronophthisis: a genetically diverse ciliopathy. International Journal of Nephrology, 2011. p. 527137. ISSN 2090-214X