Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development by Ceroni, F, Cicekdal, MB, Holt, R, Sorokina, E, Chassaing, N, Clokie, S, Naert, T, Talbot, LV, Muheisen, S, Bax, DA, Kesim, Y, Kivuva, EC, Vincent-Delorme, C, Lienkamp, SS, Plaisancié, J, De Baere, E, Calvas, P, Vleminckx, K, Semina, EV, Ragge, NK

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Pagnamenta, AT, Camps, C, Giacopuzzi, E, Taylor, JM, Hashim, M, Calpena, E, Kaisaki, PJ, Hashimoto, A, Yu, J, Sanders, E, Schwessinger, R, Hughes, JR, Lunter, G, Dreau, H, Ferla, M, Lange, L, Kesim, Y, Ragoussis, V, Vavoulis, DV, Allroggen, H, Ansorge, O, Babbs, C, Banka, S, Baños-Piñero, B, Beeson, D, Ben-Ami, T, Bennett, DL, Bento, C, Blair, E, Brasch-Andersen, C, Bull, KR, Cario, H, Cilliers, D, Conti, V, Davies, EG, Dhalla, F, Dacal, BD, Dong, Y, Dunford, JE, Guerrini, R, Harris, AL, Hartley, J, Hollander, G, Javaid, K, Kane, M, Kelly, D, Kelly, D, Knight, SJL, Kreins, AY, Kvikstad, EM, Lines, KE, Lord, SR, Lu, X, Marsden, B, Ormondroyd, E, Stevenson, M, Twigg, SRF, Uhlig, HH, Watkins, H, Schuh, AH, Wilkie, AOM, Taylor, JC