Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia. by McWilliam, C, Ridout, C, Brown, R, McWilliam, R, Tolmie, J, Brown, G

Dihydrolipoamide acetyltransferase deficiency in cases of atypical pantothenate kinase associated neurodegeneration by MeWilliam, C, Brown, R, MeWilliam, R, Ridout, C, Tolmie, J, Brown, G

Identification of mutations in a trans-acting factor with different effects on alpha and beta globin expression. by Viprakasit, V, Gibbons, R, Tolmie, J, Lunt, P, Winter, R, Broughton, B, Lehmann, A, Higgs, DR

Identification of mutations in a trans-acting factor with different effects on alpha and beta globin expression. by Viprakasit, V, Gibbons, R, Tolmie, J, Lunt, P, Winter, R, Broughton, B, Lehmann, A, Higgs, DR

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. by Viprakasit, V, Gibbons, R, Broughton, B, Tolmie, J, Brown, D, Lunt, P, Winter, R, Marinoni, S, Stefanini, M, Brueton, L, Lehmann, A, Higgs, D

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS) by Nemeth, A, Kwasniewska, A, Schnekenberg, R, Lise, S, Becker, E, Shanks, M, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Lunt, P, Morrisor, P, Worth, P, Tolmie, J, Packham, E, Seller, A, Ragoussis, J

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model by Németh, A, Jiannis Ragoussis, Kwasniewska, A, Lise, S, Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O’Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. by Németh, A, Kwasniewska, A, Lise, S, Parolin Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Zameel Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O'Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A, Ragoussis, J

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcrip... by Ali, A, Christie, P, Grigorieva, I, Harding, B, Van Esch, H, Ahmed, S, Bitner-Glindzicz, M, Blind, E, Bloch, C, Christin, P, Clayton, P, Gecz, J, Gilbert-Dussardier, B, Guillen-Navarro, E, Hackett, A, Halac, I, Hendy, G, Lalloo, F, Mache, C, Mughal, Z, Ong, A, Rinat, C, Shaw, N, Smithson, S, Tolmie, J