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Page 1
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Yokoyama S, Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, Gartside M, Cust AE, Haq R, Harland M, Taylor JC, Duffy DL, Holohan K, Dutton-Regester K, Palmer JM, Bonazzi V, Stark MS, Symmons J, Law MH, Schmidt C, Lanagan C, O'Connor L, Holland EA, Schmid H, Maskiell JA, Jetann J, Ferguson M, Jenkins MA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Whiteman DC, Pharoah PD, Easton DF, Dunning AM, Newton-Bishop JA, Montgomery GW, Martin NG, Mann GJ, Bishop DT, Tsao H, Trent JM, Fisher DE, Hayward NK, Brown KM. Yokoyama S, et al. Among authors: maskiell ja. Nature. 2011 Nov 13;480(7375):99-103. doi: 10.1038/nature10630. Nature. 2011. PMID: 22080950 Free PMC article.
Common sequence variants on 20q11.22 confer melanoma susceptibility.
Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, Henders AK, Homer N, Campbell MJ, Stark M, Thomas S, Schmid H, Holland EA, Gillanders EM, Duffy DL, Maskiell JA, Jetann J, Ferguson M, Stephan DA, Cust AE, Whiteman D, Green A, Olsson H, Puig S, Ghiorzo P, Hansson J, Demenais F, Goldstein AM, Gruis NA, Elder DE, Bishop JN, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Martin NG, Trent JM, Mann GJ, Hayward NK. Brown KM, et al. Among authors: maskiell ja. Nat Genet. 2008 Jul;40(7):838-40. doi: 10.1038/ng.163. Epub 2008 May 18. Nat Genet. 2008. PMID: 18488026 Free PMC article.
Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk: Australian Melanoma Family Study.
Cust AE, Schmid H, Maskiell JA, Jetann J, Ferguson M, Holland EA, Agha-Hamilton C, Jenkins MA, Kelly J, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Mann GJ. Cust AE, et al. Among authors: maskiell ja. Am J Epidemiol. 2009 Dec 15;170(12):1541-54. doi: 10.1093/aje/kwp307. Epub 2009 Nov 3. Am J Epidemiol. 2009. PMID: 19887461 Free PMC article.
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
Macgregor S, Montgomery GW, Liu JZ, Zhao ZZ, Henders AK, Stark M, Schmid H, Holland EA, Duffy DL, Zhang M, Painter JN, Nyholt DR, Maskiell JA, Jetann J, Ferguson M, Cust AE, Jenkins MA, Whiteman DC, Olsson H, Puig S, Bianchi-Scarrà G, Hansson J, Demenais F, Landi MT, Dębniak T, Mackie R, Azizi E, Bressac-de Paillerets B, Goldstein AM, Kanetsky PA, Gruis NA, Elder DE, Newton-Bishop JA, Bishop DT, Iles MM, Helsing P, Amos CI, Wei Q, Wang LE, Lee JE, Qureshi AA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Han J, Hopper JL, Trent JM, Brown KM, Martin NG, Mann GJ, Hayward NK. Macgregor S, et al. Among authors: maskiell ja. Nat Genet. 2011 Oct 9;43(11):1114-8. doi: 10.1038/ng.958. Nat Genet. 2011. PMID: 21983785 Free PMC article.
How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry.
Keogh LA, Fisher D, Sheinfeld Gorin S, Schully SD, Lowery JT, Ahnen DJ, Maskiell JA, Lindor NM, Hopper JL, Burnett T, Holter S, Arnold JL, Gallinger S, Laurino M, Esplen MJ, Sinicrope PS; Colon Cancer Family Registry. Keogh LA, et al. Among authors: maskiell ja. J Community Genet. 2014 Apr;5(2):99-108. doi: 10.1007/s12687-013-0148-y. Epub 2013 May 24. J Community Genet. 2014. PMID: 23703702 Free PMC article.