IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis I by Ghosh, A, Mercer, J, Mackinnon, S, Yue, WW, Church, H, Beesley, CE, Broomfield, A, Jones, SA, Tylee, K

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes by Reid, E, Papandreou, A, Drury, S, Boustred, C, Yue, W, Wedatilake, Y, Beesley, C, Jacques, T, Anderson, G, Abulhoul, L, Broomfield, A, Cleary, M, Grunewald, S, Varadkar, S, Lench, N, Rahman, S, Gissen, P, Clayton, P, Mills, P