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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program; Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. McLaughlin HM, et al. Among authors: wilson te. Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Hum Mutat. 2012. PMID: 22009580 Free PMC article.
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Among authors: wilson te. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.
Harnessing genomics to identify environmental determinants of heritable disease.
Yauk CL, Lucas Argueso J, Auerbach SS, Awadalla P, Davis SR, DeMarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, Marchetti F, Montpetit A, Mulvihill JJ, Robaire B, Robbins WA, Rouleau GA, Shaughnessy DT, Somers CM, Taylor JG 6th, Trasler J, Waters MD, Wilson TE, Witt KL, Bishop JB. Yauk CL, et al. Among authors: wilson te. Mutat Res. 2013 Jan-Mar;752(1):6-9. doi: 10.1016/j.mrrev.2012.08.002. Epub 2012 Aug 28. Mutat Res. 2013. PMID: 22935230 Free PMC article.
Increased recombination between active tRNA genes.
Pratt-Hyatt MJ, Kapadia KM, Wilson TE, Engelke DR. Pratt-Hyatt MJ, et al. Among authors: wilson te. DNA Cell Biol. 2006 Jun;25(6):359-64. doi: 10.1089/dna.2006.25.359. DNA Cell Biol. 2006. PMID: 16792506 Free PMC article.
MLH1 deficiency enhances tumor cell sensitivity to ganciclovir.
O'Konek JJ, Boucher PD, Iacco AA, Wilson TE, Shewach DS. O'Konek JJ, et al. Among authors: wilson te. Cancer Gene Ther. 2009 Sep;16(9):683-92. doi: 10.1038/cgt.2009.16. Epub 2009 Mar 20. Cancer Gene Ther. 2009. PMID: 19300472 Free PMC article.
Hydroxyurea induces de novo copy number variants in human cells.
Arlt MF, Ozdemir AC, Birkeland SR, Wilson TE, Glover TW. Arlt MF, et al. Among authors: wilson te. Proc Natl Acad Sci U S A. 2011 Oct 18;108(42):17360-5. doi: 10.1073/pnas.1109272108. Epub 2011 Oct 10. Proc Natl Acad Sci U S A. 2011. PMID: 21987784 Free PMC article.
443 results