Manchester University NHS Foundation Trust (MFT)

The genomic architecture of bladder exstrophy epispadias complex (2021) Beaman GM, Cervellione RM, Keene D, Reutter HM, Newman WG Journal article, Review article Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women (2021) Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Luccarini C, Wahlstrom C, Pooley KA, et al. Journal article Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group. (2021) Bakhuizen JJ, Hanson H, Van Der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ Journal article EULAR definition of difficult-To-Treat rheumatoid arthritis (2021) Nagy G, Roodenrijs NM, Welsing PM, Kedves M, Hamar A, Van Der Goes MC, Kent A, et al. Journal article Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al. Conference contribution The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis (2020) Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, Cui Z, et al. Journal article SLC20A1 Is Involved in Urinary Tract and Urorectal Development (2020) Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, et al. Journal article New developments in non-invasive visual electrophysiology. (2020) Parry NRA, Mckeefry DJ, Murray IJ, Kremers J Journal article, Editorial New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al. Journal article Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases (2019) Amiel J, Mishra K, Castilla L, Selmer KK, Barak T, Yang S, Blanco-Sanchez B, et al. Conference contribution