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TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.
Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, Eyre S, Bowes J, Cui J, Lee A, Pappas DA, Kremer JM, Barton A, Coenen MJ, Franke B, Kiemeney LA, Mariette X, Richard-Miceli C, Canhão H, Fonseca JE, de Vries N, Tak PP, Crusius JB, Nurmohamed MT, Kurreeman F, Mikuls TR, Okada Y, Stahl EA, Larson DE, Deluca TL, O'Laughlin M, Fronick CC, Fulton LL, Kosoy R, Ransom M, Bhangale TR, Ortmann W, Cagan A, Gainer V, Karlson EW, Kohane I, Murphy SN, Martin J, Zhernakova A, Klareskog L, Padyukov L, Worthington J, Mardis ER, Seldin MF, Gregersen PK, Behrens T, Raychaudhuri S, Denny JC, Plenge RM. Diogo D, et al. Among authors: fronick cc. PLoS One. 2015 Apr 7;10(4):e0122271. doi: 10.1371/journal.pone.0122271. eCollection 2015. PLoS One. 2015. PMID: 25849893 Free PMC article.
Genome remodelling in a basal-like breast cancer metastasis and xenograft.
Ding L, Ellis MJ, Li S, Larson DE, Chen K, Wallis JW, Harris CC, McLellan MD, Fulton RS, Fulton LL, Abbott RM, Hoog J, Dooling DJ, Koboldt DC, Schmidt H, Kalicki J, Zhang Q, Chen L, Lin L, Wendl MC, McMichael JF, Magrini VJ, Cook L, McGrath SD, Vickery TL, Appelbaum E, Deschryver K, Davies S, Guintoli T, Lin L, Crowder R, Tao Y, Snider JE, Smith SM, Dukes AF, Sanderson GE, Pohl CS, Delehaunty KD, Fronick CC, Pape KA, Reed JS, Robinson JS, Hodges JS, Schierding W, Dees ND, Shen D, Locke DP, Wiechert ME, Eldred JM, Peck JB, Oberkfell BJ, Lolofie JT, Du F, Hawkins AE, O'Laughlin MD, Bernard KE, Cunningham M, Elliott G, Mason MD, Thompson DM Jr, Ivanovich JL, Goodfellow PJ, Perou CM, Weinstock GM, Aft R, Watson M, Ley TJ, Wilson RK, Mardis ER. Ding L, et al. Among authors: fronick cc. Nature. 2010 Apr 15;464(7291):999-1005. doi: 10.1038/nature08989. Nature. 2010. PMID: 20393555 Free PMC article.
Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
Link DC, Schuettpelz LG, Shen D, Wang J, Walter MJ, Kulkarni S, Payton JE, Ivanovich J, Goodfellow PJ, Le Beau M, Koboldt DC, Dooling DJ, Fulton RS, Bender RH, Fulton LL, Delehaunty KD, Fronick CC, Appelbaum EL, Schmidt H, Abbott R, O'Laughlin M, Chen K, McLellan MD, Varghese N, Nagarajan R, Heath S, Graubert TA, Ding L, Ley TJ, Zambetti GP, Wilson RK, Mardis ER. Link DC, et al. Among authors: fronick cc. JAMA. 2011 Apr 20;305(15):1568-76. doi: 10.1001/jama.2011.473. JAMA. 2011. PMID: 21505135 Free PMC article.
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, Baird PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. Zhan X, et al. Among authors: fronick cc. Nat Genet. 2013 Nov;45(11):1375-9. doi: 10.1038/ng.2758. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036949 Free PMC article.
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Service SK, Teslovich TM, Fuchsberger C, Ramensky V, Yajnik P, Koboldt DC, Larson DE, Zhang Q, Lin L, Welch R, Ding L, McLellan MD, O'Laughlin M, Fronick C, Fulton LL, Magrini V, Swift A, Elliott P, Jarvelin MR, Kaakinen M, McCarthy MI, Peltonen L, Pouta A, Bonnycastle LL, Collins FS, Narisu N, Stringham HM, Tuomilehto J, Ripatti S, Fulton RS, Sabatti C, Wilson RK, Boehnke M, Freimer NB. Service SK, et al. PLoS Genet. 2014 Jan 30;10(1):e1004147. doi: 10.1371/journal.pgen.1004147. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497850 Free PMC article.
Functional heterogeneity of genetically defined subclones in acute myeloid leukemia.
Klco JM, Spencer DH, Miller CA, Griffith M, Lamprecht TL, O'Laughlin M, Fronick C, Magrini V, Demeter RT, Fulton RS, Eades WC, Link DC, Graubert TA, Walter MJ, Mardis ER, Dipersio JF, Wilson RK, Ley TJ. Klco JM, et al. Cancer Cell. 2014 Mar 17;25(3):379-92. doi: 10.1016/j.ccr.2014.01.031. Epub 2014 Mar 6. Cancer Cell. 2014. PMID: 24613412 Free PMC article.
171 results