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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. Lee YN, et al. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
RAG1 reversion mosaicism in a patient with Omenn syndrome.
Crestani E, Choo S, Frugoni F, Lee YN, Richards S, Smart J, Notarangelo LD. Crestani E, et al. Among authors: lee yn. J Clin Immunol. 2014 Jul;34(5):551-4. doi: 10.1007/s10875-014-0051-2. Epub 2014 May 10. J Clin Immunol. 2014. PMID: 24817258 Free PMC article.
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
Abolhassani H, Wang N, Aghamohammadi A, Rezaei N, Lee YN, Frugoni F, Notarangelo LD, Pan-Hammarström Q, Hammarström L. Abolhassani H, et al. Among authors: lee yn. J Allergy Clin Immunol. 2014 Dec;134(6):1375-1380. doi: 10.1016/j.jaci.2014.04.042. Epub 2014 Jul 2. J Allergy Clin Immunol. 2014. PMID: 24996264 Free PMC article.
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD. Felgentreff K, et al. Among authors: lee yn. J Allergy Clin Immunol. 2015 Jul;136(1):140-150.e7. doi: 10.1016/j.jaci.2015.03.005. Epub 2015 Apr 25. J Allergy Clin Immunol. 2015. PMID: 25917813 Free PMC article.
Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD, Kim MS, Walter JE, Lee YN. Notarangelo LD, et al. Among authors: lee yn. Nat Rev Immunol. 2016 Apr;16(4):234-46. doi: 10.1038/nri.2016.28. Epub 2016 Mar 21. Nat Rev Immunol. 2016. PMID: 26996199 Free PMC article. Review.
Characterization of T and B cell repertoire diversity in patients with RAG deficiency.
Lee YN, Frugoni F, Dobbs K, Tirosh I, Du L, Ververs FA, Ru H, Ott de Bruin L, Adeli M, Bleesing JH, Buchbinder D, Butte MJ, Cancrini C, Chen K, Choo S, Elfeky RA, Finocchi A, Fuleihan RL, Gennery AR, El-Ghoneimy DH, Henderson LA, Al-Herz W, Hossny E, Nelson RP, Pai SY, Patel NC, Reda SM, Soler-Palacin P, Somech R, Palma P, Wu H, Giliani S, Walter JE, Notarangelo LD. Lee YN, et al. Sci Immunol. 2016 Dec 16;1(6):eaah6109. doi: 10.1126/sciimmunol.aah6109. Epub 2016 Dec 16. Sci Immunol. 2016. PMID: 28783691 Free PMC article.
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN. Tirosh I, et al. Among authors: lee yn. J Allergy Clin Immunol. 2019 Feb;143(2):726-735. doi: 10.1016/j.jaci.2018.04.027. Epub 2018 Jun 18. J Allergy Clin Immunol. 2019. PMID: 29772310 Free PMC article.
514 results