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Page 1
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D. Banka S, et al. Among authors: bunstone s. Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30. Eur J Hum Genet. 2012. PMID: 22126750 Free PMC article.
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
Ryan NAJ, McMahon R, Tobi S, Snowsill T, Esquibel S, Wallace AJ, Bunstone S, Bowers N, Mosneag IE, Kitson SJ, O'Flynn H, Ramchander NC, Sivalingam VN, Frayling IM, Bolton J, McVey RJ, Evans DG, Crosbie EJ. Ryan NAJ, et al. Among authors: bunstone s. PLoS Med. 2020 Sep 17;17(9):e1003263. doi: 10.1371/journal.pmed.1003263. eCollection 2020 Sep. PLoS Med. 2020. PMID: 32941469 Free PMC article.
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Smith MJ, Perez-Becerril C, van der Meer M, Burghel GJ, Waller SJ, Carney M, Bunstone S, Fryer K, Bowers NL, Hartley CL, Smith PT, Rutherford SA, Freeman SR, Lloyd SKW, Pathmanaban ON, King AT, Halliday D, Duff C, Evans DG. Smith MJ, et al. Among authors: bunstone s. J Med Genet. 2024 Oct 23;61(11):1011-1015. doi: 10.1136/jmg-2024-110217. J Med Genet. 2024. PMID: 39209702
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A, Mashayamombe-Wolfgarten C, Stone E, Román-Montañana C, Abbott J, Jenkinson H, Millen G, Gurney S, McCalla M, Staveley SJ, Kainth A, Kirk M, Bowen C, Cavanagh S, Bunstone S, Carney M, Mohite A, Clokie S, Reddy MA, Foster A, Allen S, Parulekar M, Cole T. Gerrish A, et al. Among authors: bunstone s. Cancers (Basel). 2024 Apr 19;16(8):1565. doi: 10.3390/cancers16081565. Cancers (Basel). 2024. PMID: 38672657 Free PMC article.