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Page 1
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Snape K, et al. Among authors: elliott a. Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552266 Free PMC article.
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N. Yost S, et al. Among authors: elliott a. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553959 Free PMC article.
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR. Rahman N, et al. Among authors: elliott a. Nat Genet. 2007 Feb;39(2):165-7. doi: 10.1038/ng1959. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200668 Free PMC article.
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Hanks S, Perdeaux ER, Seal S, Ruark E, Mahamdallie SS, Murray A, Ramsay E, Del Vecchio Duarte S, Zachariou A, de Souza B, Warren-Perry M, Elliott A, Davidson A, Price H, Stiller C, Pritchard-Jones K, Rahman N. Hanks S, et al. Among authors: elliott a. Nat Commun. 2014 Aug 7;5:4398. doi: 10.1038/ncomms5398. Nat Commun. 2014. PMID: 25099282 Free PMC article.
Mutations in the transcriptional repressor REST predispose to Wilms tumor.
Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Mahamdallie SS, et al. Among authors: elliott a. Nat Genet. 2015 Dec;47(12):1471-4. doi: 10.1038/ng.3440. Epub 2015 Nov 9. Nat Genet. 2015. PMID: 26551668
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR, Rahman N. Seal S, et al. Among authors: elliott a. Nat Genet. 2006 Nov;38(11):1239-41. doi: 10.1038/ng1902. Epub 2006 Oct 8. Nat Genet. 2006. PMID: 17033622
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Among authors: elliott a. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Among authors: elliott a. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, Montfort RV; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Among authors: elliott a. Hum Mol Genet. 2019 May 1;28(9):1578. doi: 10.1093/hmg/ddy424. Hum Mol Genet. 2019. PMID: 30615140 Free PMC article. No abstract available.
1,939 results