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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Among authors: eskin a. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2.
Tanaka K, Eskin A, Chareyre F, Jessen WJ, Manent J, Niwa-Kawakita M, Chen R, White CH, Vitte J, Jaffer ZM, Nelson SF, Rubenstein AE, Giovannini M. Tanaka K, et al. Among authors: eskin a. Clin Cancer Res. 2013 Jul 15;19(14):3856-70. doi: 10.1158/1078-0432.CCR-12-3167. Epub 2013 May 28. Clin Cancer Res. 2013. PMID: 23714726 Free PMC article.
Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.
Swaggart KA, Demonbreun AR, Vo AH, Swanson KE, Kim EY, Fahrenbach JP, Holley-Cuthrell J, Eskin A, Chen Z, Squire K, Heydemann A, Palmer AA, Nelson SF, McNally EM. Swaggart KA, et al. Among authors: eskin a. Proc Natl Acad Sci U S A. 2014 Apr 22;111(16):6004-9. doi: 10.1073/pnas.1324242111. Epub 2014 Apr 9. Proc Natl Acad Sci U S A. 2014. PMID: 24717843 Free PMC article.
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. Baxter RM, et al. Among authors: eskin a. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10. J Clin Endocrinol Metab. 2015. PMID: 25383892 Free PMC article.
140 results