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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
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.
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
Banka S, Howard E, Bunstone S, Chandler KE, Kerr B, Lachlan K, McKee S, Mehta SG, Tavares AL, Tolmie J, Donnai D.
Banka S, et al. Among authors: bunstone s.
Clin Genet. 2013 May;83(5):467-71. doi: 10.1111/j.1399-0004.2012.01955.x. Epub 2012 Sep 18.
Clin Genet. 2013.
PMID: 22901312
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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.
Banka S, et al. Among authors: bunstone s.
Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363. Epub 2014 Mar 27.
Clin Genet. 2015.
PMID: 24527667
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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.
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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.
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