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Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA. Similuk MN, et al. Among authors: niemela j. J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24. J Allergy Clin Immunol. 2022. PMID: 35753512 Free PMC article. Review.
Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.
Caminha I, Fleisher TA, Hornung RL, Dale JK, Niemela JE, Price S, Davis J, Perkins K, Dowdell KC, Brown MR, Rao VK, Oliveira JB. Caminha I, et al. Among authors: niemela je. J Allergy Clin Immunol. 2010 Apr;125(4):946-949.e6. doi: 10.1016/j.jaci.2009.12.983. Epub 2010 Mar 15. J Allergy Clin Immunol. 2010. PMID: 20227752 Free PMC article. No abstract available.
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. De Ravin SS, et al. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20. Blood. 2010. PMID: 20489056 Free PMC article.
192 results