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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Among authors: eichler ee. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
Comparative analysis of Alu repeats in primate genomes.
Liu GE, Alkan C, Jiang L, Zhao S, Eichler EE. Liu GE, et al. Among authors: eichler ee. Genome Res. 2009 May;19(5):876-85. doi: 10.1101/gr.083972.108. Genome Res. 2009. PMID: 19411604 Free PMC article.
Limitations of next-generation genome sequence assembly.
Alkan C, Sajjadian S, Eichler EE. Alkan C, et al. Among authors: eichler ee. Nat Methods. 2011 Jan;8(1):61-5. doi: 10.1038/nmeth.1527. Epub 2010 Nov 21. Nat Methods. 2011. PMID: 21102452 Free PMC article.
Genome structural variation discovery and genotyping.
Alkan C, Coe BP, Eichler EE. Alkan C, et al. Among authors: eichler ee. Nat Rev Genet. 2011 May;12(5):363-76. doi: 10.1038/nrg2958. Epub 2011 Mar 1. Nat Rev Genet. 2011. PMID: 21358748 Free PMC article. Review.
Sensitive and fast mapping of di-base encoded reads.
Hormozdiari F, Hach F, Sahinalp SC, Eichler EE, Alkan C. Hormozdiari F, et al. Among authors: eichler ee. Bioinformatics. 2011 Jul 15;27(14):1915-21. doi: 10.1093/bioinformatics/btr303. Epub 2011 May 17. Bioinformatics. 2011. PMID: 21586516 Free PMC article.
600 results