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Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG. Fairfield H, et al. Among authors: bogdanik l. Genome Res. 2015 Jul;25(7):948-57. doi: 10.1101/gr.186882.114. Epub 2015 Apr 27. Genome Res. 2015. PMID: 25917818 Free PMC article.
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. Spaulding EL, et al. Among authors: bogdanik lp. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1. Science. 2021. PMID: 34516839 Free PMC article.
22 results