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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: faustino p. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia.
Mettananda S, Fisher CA, Hay D, Badat M, Quek L, Clark K, Hublitz P, Downes D, Kerry J, Gosden M, Telenius J, Sloane-Stanley JA, Faustino P, Coelho A, Doondeea J, Usukhbayar B, Sopp P, Sharpe JA, Hughes JR, Vyas P, Gibbons RJ, Higgs DR. Mettananda S, et al. Among authors: faustino p. Nat Commun. 2017 Sep 4;8(1):424. doi: 10.1038/s41467-017-00479-7. Nat Commun. 2017. PMID: 28871148 Free PMC article.
The role of HFE mutations on iron metabolism in beta-thalassemia carriers.
Martins R, Picanço I, Fonseca A, Ferreira L, Rodrigues O, Coelho M, Seixas T, Miranda A, Nunes B, Costa L, Romão L, Faustino P. Martins R, et al. Among authors: faustino p. J Hum Genet. 2004;49(12):651-655. doi: 10.1007/s10038-004-0202-z. Epub 2004 Nov 5. J Hum Genet. 2004. PMID: 15538648
155 results