JUVENILE HAEMOCHROMATOSIS MUTATIONS ARE NOT THAT SIMPLE por Bignell, P, Schuh, A, Robson, K

A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia. por Saja, K, Bignell, P, Robson, K, Provan, D

A NOVEL TMPRSS6 MUTATION IN 2 BULGARIAN SIBLINGS por Bignell, P, Sheikh, M, Schuh, A, Robson, K

THE USE OF NEXT-GENERATION SEQUENCING TO SCREEN FOR MUTATIONS IN 16 GENES INVOLVED IN IRON HOMEOSTASIS AS AN AID TO GENETIC DIAGNOSIS FOR PATIENTS WITH IRON OVERLOAD OR IRON DEFICI... por Bignell, P, Burns, A, Schuh, A, Robson, K

Application of MLPA and gap-PCR mapping to characterise a novel beta globin gene cluster deletion mutation in a family of Afghan ancestry por Gallienne, A, Hampson, J, Bignell, P, Old, J, Schuh, A, Henderson, S

ESTIMATING DISEASE PENETRANCE IN P.C282Y HOMOZYGOTES IN THE UK por Bignell, P, Merryweather-Clarke, A, Lok, C, Schuh, A, Robson, K

COMPREHENSIVE GENETIC TESTING IS REQUIRED FOR PATIENTS WITH UNEXPLAINED IRON OVERLOAD por Bignell, P, Merryweather-Clarke, A, Lok, C, Schuh, A, Robson, K

NOVEL GENE DELETIONS RESULT IN HAEMOCHROMATOSIS por Bignell, P, Knight, S, Mackie, P, Clifford, R, Murrin, R, Schuh, A, Robson, K

Characterization of a novel deletion causing beta-thalassemia major in an Afghan family. por Gallienne, A, Iberson, N, Dréau, H, Jackson, H, Bignell, P, Old, J, Schuh, A, Henderson, S

Cardiac iron overload in transfusion-dependent patients with myelodysplastic syndromes. por Roy, N, Myerson, S, Schuh, A, Bignell, P, Patel, R, Wainscoat, J, McGowan, S, Marchi, E, Atoyebi, W, Littlewood, T, Chacko, J, Vyas, P, Killick, S

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. por Taylor, J, Martin, H, Lise, S, Broxholme, J, Cazier, J, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R, Cornall, R, Craft, J, Dahan, K, Davenport, E, Dendrou, C, Devuyst, O, Fenwick, A, Flint, J, Fugger, L, Gilbert, R, Goriely, A, Green, A, Greger, I, Grocock, R, Gruszczyk, A, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S, McMullin, M, Miller, K, Murray, L, Németh, A, Nesbit, A, Nutt, D, Ormondroyd, E, Oturai, A, Pagnamenta, A, Patel, S, Percy, M, Petousi, N, Piazza, P, Piret, S, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P, Schuh, A, Silverman, E, Simmons, A, Sørensen, P, Sweeney, E, Taylor, J, Thakker, R, Tomlinson, I, Trebes, A, Twigg, S, Uhlig, H, Vyas, P, Vyse, T, Wall, S, Watkins, H, Whyte, M, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P, Bell, J, Wilkie, A, Bentley, D, Donnelly, P, McVean, G