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Page 1
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Spectrum of clonal hematopoiesis in VEXAS syndrome.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, Alessi H, Finke C, Koster MJ, Mangaonkar A, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha D, Ferrada M, Wilson L, Go R, Kourelis T, Reichard K, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Rosenzweig S, Calado RT, Groarke EM, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM. Gutierrez-Rodrigues F, et al. Blood. 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774. Blood. 2023. PMID: 37084382 Free PMC article.
Somatic mosaicism in inherited bone marrow failure syndromes.
Gutierrez-Rodrigues F, Sahoo SS, Wlodarski MW, Young NS. Gutierrez-Rodrigues F, et al. Best Pract Res Clin Haematol. 2021 Jun;34(2):101279. doi: 10.1016/j.beha.2021.101279. Epub 2021 Jun 27. Best Pract Res Clin Haematol. 2021. PMID: 34404533 Free PMC article. Review.
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR. Obiorah IE, et al. Blood Adv. 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. Blood Adv. 2021. PMID: 34427584 Free PMC article.
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F, Donaires FS, Pinto A, Vicente A, Dillon LW, Clé DV, Santana BA, Pirooznia M, Ibanez MDPF, Townsley DM, Kajigaya S, Hourigan CS, Cooper JN, Calado RT, Young NS. Gutierrez-Rodrigues F, et al. Genet Med. 2019 Jul;21(7):1594-1602. doi: 10.1038/s41436-018-0385-x. Epub 2018 Dec 7. Genet Med. 2019. PMID: 30523342 Free PMC article.
38 results