A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker by Bozhilov, YK, Downes, DJ, Telenius, J, Marieke Oudelaar, A, Olivier, EN, Mountford, JC, Hughes, JR, Gibbons, RJ, Higgs, DR

Reactivation of a developmentally silenced embryonic globin gene by King, AJ, Songdej, D, Downes, DJ, Beagrie, RA, Liu, S, Buckley, M, Hua, P, Suciu, MC, Marieke Oudelaar, A, Hanssen, LLP, Jeziorska, D, Roberts, N, Carpenter, SJ, Francis, H, Telenius, J, Olijnik, A-A, Sharpe, JA, Sloane-Stanley, J, Eglinton, J, Kassouf, MT, Orkin, SH, Pennacchio, LA, Davies, JOJ, Hughes, JR, Higgs, DR, Babbs, C