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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.
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.
Replication stress and mechanisms of CNV formation.
Arlt MF, Wilson TE, Glover TW. Arlt MF, et al. Among authors: wilson te. Curr Opin Genet Dev. 2012 Jun;22(3):204-10. doi: 10.1016/j.gde.2012.01.009. Epub 2012 Feb 23. Curr Opin Genet Dev. 2012. PMID: 22365495 Free PMC article. Review.
456 results