Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham F, Bonthron DT (2010) Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. Rheumatology, 49(6):1056-62
Valleley EM, Cordery SF, Carr IM, Maclennan KA, Bonthron DT. (2010) Loss of expression of ZAC/PLAGL1 in diffuse large B-cell lymphoma is independent of promoter hypermethylation. Genes Chromosomes Cancer. 49(5):480-6
Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. (2010) Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet.;86(2):248-53.
Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR. (2010) Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat. 31(4):484-91
Anwar R, Valleley EM, Trinh CH. (2010) Novel human pathological mutations. Gene symbol: F13A1. Disease: Factor XIII Deficiency. Hum Genet.;127(1):115-6.
Carr IM, Robinson JI, Dimitriou R, Markham AF, Morgan AW, Bonthron DT. (2009) Inferring relative proportions of DNA variants from sequencing electropherograms Bioinformatics; 25(24); 3244-3250
Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods GC, Mushtaq Ahmed, Louise Hattingh, Peter Corry, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E. (2009) Mutation of the Variant a-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia American Journal of Human Genetics.; 85:737-744
Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA. (2009) Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders Hum Mutat.; 30:1642-1649
Anwar R, Langlois S. (2009) The Arg703Trp missense mutation in F13A1 is a de novo event. Br J Haematol.;146(1):118-20.
Diggle CP, Shires M, Leitch D, Brook D, Carr IM, Markham AF, Hayward BE, Asipu A, Bonthron DT. (2009) Ketohexokinase: expression and localization of the principal fructose-metabolising enzyme.Journal of Histochemistry & Cytochemistry.; 57(8):763-74
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics.; 41:829-832
Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT. (2009) IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease. Hum Mutat.; 30:960-7
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. (2009) Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal recessive cone-rod dystrophy and amelogenesis imperfecta. American Journal of Human Genetics.; 84: 266-273
Boxall SA, Cook GP, Pearce D, Bonnet D, El-Sherbiny YM, Blundell MP, Howe SJ, Leek JP, Markham AF, de Wynter EA. (2008) Haematopoietic repopulating activity in human cord blood CD133+ quiescent cells. Bone Marrow Transplant.;43(8):627-35.
Uppal S, Diggle CP, Carr IM, Fishwick CWG, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SEV, Markham AF, Bennett CP, Bonthron DT. (2008) Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nature Genetics.; 40:789-793
Trinh CH, Sh Elsayed W, Eshghi P, Miri-Moghaddam E, Zadeh-Vakili A, Markham AF, Anwar R. (2008) Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran. Br J Haematol.;140(5):581-4.
Ko CW, Cuthbert RJ, Orsi NM, Brooke DA, Perry SL, Markham AF, Coletta PL, Hull MA. (2008) Lack of interleukin-4 receptor alpha chain-dependent signalling promotes azoxymethane-induced colorectal aberrant crypt focus formation in Balb/c mice. J Pathol.;214(5):603-9.
Rice, G.I; Patrick, T; Parmar, R; Taylor, C.F; Aeby, A; Aicardi, J; Artuch, R; Attard Montalto, S; Bacino, C.A; Barroso, B; Baxter, P; Benko, W.S; Bergmann, C; Bertini, E; Biancheri, R; Blair, E.M; Blau, N; Bonthron, D.T; Briggs, T; Brueton, L.A; Brunner, H.G; Burke, C.J; Carr, I.M; Carvalho, D.R; Chandler, K.E; Christen, H.J; Corry, P.C; Cowan, F.M; Cox, H; d'arrigo, S; Dean, J; De Laet, C; De Praeter, C; Dery, C; Ferrie, C.D; Flintoff, K; Frints, S.G.M; Garcia-Cazorla, A; Gener, B; Goizet, C; Goouieres, F; Green, A.J; Guet, A; Hamel, B.C.J; Hayward, B.E; Heiberg, A; Hennekam, R.C; Husson, M; Jackson, A.P; Jayatunga, R; Jiang, Y.H; Kant, S.G; Kao, S.G; King, M.D; Kingston, H.M; Klepper, J; van der Knaap, M.S; Kornberg, A.J; Kotzot, D; Kratzer, W; Lacombe, D; Lagae, L; Landrieu, P.G; Lanzi, G; Leitch, A; Limm, M.J; Livingston, J.H; Lourenco, C.M; Lyall, E.G.H; Lynch, S.A; Lyons, M.J; Marom, D; McClure, J.P; McWilli 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome American Journal of Human Genetics, 81(4), pp.713-25