JUVENILE HAEMOCHROMATOSIS MUTATIONS ARE NOT THAT SIMPLE by 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. by Saja, K, Bignell, P, Robson, K, Provan, D

A NOVEL TMPRSS6 MUTATION IN 2 BULGARIAN SIBLINGS by 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... by 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 by Gallienne, A, Hampson, J, Bignell, P, Old, J, Schuh, A, Henderson, S

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

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

NOVEL GENE DELETIONS RESULT IN HAEMOCHROMATOSIS by 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. by 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. by 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. by 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