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BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.
Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang WL, Lazar AJ, Doddapaneni H, Chao H, Muzny DM, Wheeler DA, Okcu MF, Plon SE, Hicks MJ, López-Terrada D, Parsons DW, Roy A. Peters TL, et al. Among authors: plon se. Mod Pathol. 2015 Apr;28(4):575-86. doi: 10.1038/modpathol.2014.139. Epub 2014 Oct 31. Mod Pathol. 2015. PMID: 25360585 Free PMC article.
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Yang Y, et al. Among authors: plon se. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088041 Free PMC article.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. Xia F, et al. Among authors: plon se. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Am J Hum Genet. 2014. PMID: 24791903 Free PMC article.
248 results