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Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
Mousallem T, Urban TJ, McSweeney KM, Kleinstein SE, Zhu M, Adeli M, Parrott RE, Roberts JL, Krueger B, Buckley RH, Goldstein DB. Mousallem T, et al. Among authors: roberts jl. J Allergy Clin Immunol. 2015 Aug;136(2):476-9.e6. doi: 10.1016/j.jaci.2015.02.040. Epub 2015 May 14. J Allergy Clin Immunol. 2015. PMID: 25981738 Free PMC article.
A nonsense mutation in IKBKB causes combined immunodeficiency.
Mousallem T, Yang J, Urban TJ, Wang H, Adeli M, Parrott RE, Roberts JL, Goldstein DB, Buckley RH, Zhong XP. Mousallem T, et al. Among authors: roberts jl. Blood. 2014 Sep 25;124(13):2046-50. doi: 10.1182/blood-2014-04-571265. Epub 2014 Aug 18. Blood. 2014. PMID: 25139357 Free PMC article.
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Roberts JL, Buckley RH, Luo B, Pei J, Lapidus A, Peri S, Wei Q, Shin J, Parrott RE, Dunbrack RL Jr, Testa JR, Zhong XP, Wiest DL. Roberts JL, et al. Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10456-61. doi: 10.1073/pnas.1202249109. Epub 2012 Jun 11. Proc Natl Acad Sci U S A. 2012. PMID: 22689986 Free PMC article.
562 results