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Page 1
Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.
Brohl AS, Stinson JR, Su HC, Badgett T, Jennings CD, Sukumar G, Sindiri S, Wang W, Kardava L, Moir S, Dalgard CL, Moscow JA, Khan J, Snow AL. Brohl AS, et al. Among authors: khan j. J Clin Immunol. 2015 Jan;35(1):32-46. doi: 10.1007/s10875-014-0106-4. Epub 2014 Oct 29. J Clin Immunol. 2015. PMID: 25352053 Free PMC article.
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: khan j. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000145 Free PMC article.
Massively parallel sequencing reveals an accumulation of de novo mutations and an activating mutation of LPAR1 in a patient with metastatic neuroblastoma.
Wei JS, Johansson P, Chen L, Song YK, Tolman C, Li S, Hurd L, Patidar R, Wen X, Badgett TC, Cheuk AT, Marshall JC, Steeg PS, Vaqué Díez JP, Yu Y, Gutkind JS, Khan J. Wei JS, et al. Among authors: khan j. PLoS One. 2013 Oct 16;8(10):e77731. doi: 10.1371/journal.pone.0077731. eCollection 2013. PLoS One. 2013. PMID: 24147068 Free PMC article.
Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors.
Shern JF, Chen L, Chmielecki J, Wei JS, Patidar R, Rosenberg M, Ambrogio L, Auclair D, Wang J, Song YK, Tolman C, Hurd L, Liao H, Zhang S, Bogen D, Brohl AS, Sindiri S, Catchpoole D, Badgett T, Getz G, Mora J, Anderson JR, Skapek SX, Barr FG, Meyerson M, Hawkins DS, Khan J. Shern JF, et al. Among authors: khan j. Cancer Discov. 2014 Feb;4(2):216-31. doi: 10.1158/2159-8290.CD-13-0639. Epub 2014 Jan 23. Cancer Discov. 2014. PMID: 24436047 Free PMC article.
The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.
Brohl AS, Solomon DA, Chang W, Wang J, Song Y, Sindiri S, Patidar R, Hurd L, Chen L, Shern JF, Liao H, Wen X, Gerard J, Kim JS, Lopez Guerrero JA, Machado I, Wai DH, Picci P, Triche T, Horvai AE, Miettinen M, Wei JS, Catchpool D, Llombart-Bosch A, Waldman T, Khan J. Brohl AS, et al. Among authors: khan j. PLoS Genet. 2014 Jul 10;10(7):e1004475. doi: 10.1371/journal.pgen.1004475. eCollection 2014 Jul. PLoS Genet. 2014. PMID: 25010205 Free PMC article.
3,111 results