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Page 1
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Among authors: roifman m, roifman cm. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.
Omenn syndrome is associated with mutations in DNA ligase IV.
Grunebaum E, Bates A, Roifman CM. Grunebaum E, et al. Among authors: roifman cm. J Allergy Clin Immunol. 2008 Dec;122(6):1219-20. doi: 10.1016/j.jaci.2008.08.031. Epub 2008 Oct 9. J Allergy Clin Immunol. 2008. PMID: 18845326 No abstract available.
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.
Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y. Boonyawat B, et al. Among authors: roifman cm. J Clin Immunol. 2013 Oct;33(7):1150-5. doi: 10.1007/s10875-013-9927-9. Epub 2013 Aug 14. J Clin Immunol. 2013. PMID: 23943155
The effects of RelB deficiency on lymphocyte development and function.
Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM. Sharfe N, et al. Among authors: roifman cm. J Autoimmun. 2015 Dec;65:90-100. doi: 10.1016/j.jaut.2015.09.001. Epub 2015 Sep 15. J Autoimmun. 2015. PMID: 26385063
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM. Kahr WH, et al. Among authors: roifman cm. Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816. Nat Commun. 2017. PMID: 28368018 Free PMC article.
Hematopoietic stem cell transplantation for RelB deficiency.
Ovadia A, Dinur Schejter Y, Grunebaum E, Kim VH, Reid B, Schechter T, Pope E, Roifman CM. Ovadia A, et al. Among authors: roifman cm. J Allergy Clin Immunol. 2017 Oct;140(4):1199-1201.e3. doi: 10.1016/j.jaci.2017.05.007. Epub 2017 May 26. J Allergy Clin Immunol. 2017. PMID: 28552761 No abstract available.
219 results