Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability by Hamilton, M, Caswell, R, Canham, N, Twigg, S, Wilkie, A

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification. by Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY by Steele, A, Tribble, N, Caswell, R, Wensley, K, Hattersley, A, Gloyn, A, Ellard, S

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY. by Steele, A, Tribble, N, Caswell, R, Wensley, K, Hattersley, A, Gloyn, A, Ellard, S

Thought-bubbles help children with autism acquire an alternative to a theory of mind. by Wellman, H, Baron-Cohen, S, Caswell, R, Gomez, J, Swettenham, J, Toye, E, Lagattuta, K

Homozygous hypomorphic HNF1A alleles are a novel cause of young-onset diabetes and result in sulphonylurea sensitive diabetes by Misra, S, Hassanali, N, Bennett, AJ, Juszczak, A, Caswell, R, Colclough, K, Valabhji, J, Ellard, S, Oliver, NS, Gloyn, AL