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WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene.
Dorn JM, Patnaik MS, Van Hee M, Smith MJ, Lagerstedt SA, Newman CC, Boyce TG, Abraham RS. Dorn JM, et al. Among authors: smith mj. J Allergy Clin Immunol Pract. 2017 Jul-Aug;5(4):1149-1152.e1. doi: 10.1016/j.jaip.2017.02.010. Epub 2017 Mar 31. J Allergy Clin Immunol Pract. 2017. PMID: 28373026 No abstract available.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Cousin MA, et al. Among authors: smith mj. J Clin Immunol. 2018 Apr;38(3):307-319. doi: 10.1007/s10875-018-0499-6. Epub 2018 Apr 18. J Clin Immunol. 2018. PMID: 29671115
MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks.
Mathias B, O'Leary D, Saucier N, Ahmad F, White LS, Russell L, Shinawi M, Smith MJ, Abraham RS, Cooper MA, Kitcharoensakkul M, Green AM, Bednarski JJ. Mathias B, et al. Among authors: smith mj. J Allergy Clin Immunol. 2024 Apr;153(4):1113-1124.e7. doi: 10.1016/j.jaci.2023.12.001. Epub 2023 Dec 6. J Allergy Clin Immunol. 2024. PMID: 38065233 Free PMC article.
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing.
Evans DG, Woodward ER, Burghel GJ, Allen S, Torr B, Hamill M, Kavanaugh G, Hubank M, Bremner S, Jones CI, Schlecht H, Astley S, Bowers S, Gibbons S, Ruane H, Fosbury C, Howell SJ, Forde C, Lalloo F, Newman WG, Smith MJ, Howell A, Turnbull C, Gandhi A. Evans DG, et al. Among authors: smith mj. Genet Med Open. 2023 Nov 25;2:100849. doi: 10.1016/j.gimo.2023.100849. eCollection 2024. Genet Med Open. 2023. PMID: 39669617 Free PMC article.
1,791 results