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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ. Lee HY, et al. Among authors: quinn e. Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15. Cell Rep. 2012. PMID: 22832103 Free PMC article.
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.
Moriyama T, Metzger ML, Wu G, Nishii R, Qian M, Devidas M, Yang W, Cheng C, Cao X, Quinn E, Raimondi S, Gastier-Foster JM, Raetz E, Larsen E, Martin PL, Bowman WP, Winick N, Komada Y, Wang S, Edmonson M, Xu H, Mardis E, Fulton R, Pui CH, Mullighan C, Evans WE, Zhang J, Hunger SP, Relling MV, Nichols KE, Loh ML, Yang JJ. Moriyama T, et al. Among authors: quinn e. Lancet Oncol. 2015 Dec;16(16):1659-66. doi: 10.1016/S1470-2045(15)00369-1. Epub 2015 Oct 28. Lancet Oncol. 2015. PMID: 26522332 Free PMC article.
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Topka S, et al. Among authors: quinn e. PLoS Genet. 2015 Jun 23;11(6):e1005262. doi: 10.1371/journal.pgen.1005262. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26102509 Free PMC article.
Genetic Predisposition to Neonatal Tumors.
Quinn E, McGee R, Nuccio R, Pappo AS, Nichols KE. Quinn E, et al. Curr Pediatr Rev. 2015;11(3):164-78. doi: 10.2174/1573396311666150714110229. Curr Pediatr Rev. 2015. PMID: 26168939 Review.
Germline Mutations in Predisposition Genes in Pediatric Cancer.
Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE, Downing JR. Zhang J, et al. Among authors: quinn e. N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18. N Engl J Med. 2015. PMID: 26580448 Free PMC article.
Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2-visit consent model.
Johnson LM, Sykes AD, Lu Z, Valdez JM, Gattuso J, Gerhardt E, Hamilton KV, Harrison LW, Hines-Dowell SJ, Jurbergs N, McGee RB, Nuccio R, Ouma AA, Pritchard M, Quinn EA, Baker JN, Mandrell BN, Nichols KE. Johnson LM, et al. Among authors: quinn ea. Cancer. 2019 Jul 15;125(14):2455-2464. doi: 10.1002/cncr.32071. Epub 2019 Mar 22. Cancer. 2019. PMID: 30901077 Free article.
542 results