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The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Ulirsch JC, et al. Among authors: sankaran vg. Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503522 Free PMC article.
Reversing the hemoglobin switch.
Sankaran VG, Nathan DG. Sankaran VG, et al. N Engl J Med. 2010 Dec 2;363(23):2258-60. doi: 10.1056/NEJMcibr1010767. N Engl J Med. 2010. PMID: 21121839 No abstract available.
Altered translation of GATA1 in Diamond-Blackfan anemia.
Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Ludwig LS, et al. Among authors: sankaran vg. Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22. Nat Med. 2014. PMID: 24952648 Free PMC article.
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.
Sankaran VG, Ulirsch JC, Tchaikovskii V, Ludwig LS, Wakabayashi A, Kadirvel S, Lindsley RC, Bejar R, Shi J, Lovitch SB, Bishop DF, Steensma DP. Sankaran VG, et al. J Clin Invest. 2015 Apr;125(4):1665-9. doi: 10.1172/JCI78619. Epub 2015 Feb 23. J Clin Invest. 2015. PMID: 25705881 Free PMC article.
213 results