Genomics - Key Publications

Selected publications (2012 – 2014)

  1. Boudry-Labis E, Demeer B, Le Caignec C, Isidor B, Mathieu-Dramard M, Plessis G, George AM, Taylor J, Aftimos S, Wiemer-Kruel A, Kohlhase J, Annerén G, Firth H, Simonic I, Vermeesch J, Thuresson AC, Copin H, Love DR, Andrieux J. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet. 2013; 56(3):163-70.
  2. T.F. Hiemstra, P.D. Charles, T. Gracia, S.S. Hester, L. Gatto, R. Al-Lamki, R.A. Floto, Y. Su, J.N. Skepper, K.S. Lilley & F.E. Karet Frankl. Human urinary exosomes as innate immune effectors. J. Am. Soc. Nephrol. In press, 2014.
  3. Robinson C, Hiemstra TF, Spencer D, Waller S, Daboo L, Karet Frankl FE, Sandford RN. Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. BMC Nephrol. 13:79, 2012.
  4. Ferreira, R.C., Freitag, D.F., Cutler, A.J., Howson, J.M.M., Rainbow, D.B., Smyth, D.J., Kaptoge, S., Clarke, P., Boreham, C., Coulson R.M., Pekalski, M.L., Wei-Min, C., Onengut-Gumuscu, S., Rich, S.S., Butterworth, A.S., Malarstig, A., Danesh, J. & Todd, J.A. (2013) Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases. PLoS Genet, 2013; 9 (4), e1003444.
  5. Pekalski, M.L., Ferreira, R.C., Coulson, R.M.R., Cutler, A.J., Guo, H., Smyth, D., Downes, K., Dendrou, C.A., Castro-Dopico, X., Esposito, L., Coleman, G., Stevens, H., Nutland, S., Walker, N.M., Guy, C., Dunger, D.B., Wallace, C., Tree, T.I.M., Todd, J.A. & Wicker, L.S. (2013) Post-thymic expansion in human CD4 naive T cells defined by expression of functional high affinity IL-2 receptors. J Immunol, 2013; 190 (6), 2554-2566.
  6. Downes, K., Marcovecchio, L., Clarke, P., Cooper, J.D., Ferreira, R.C., Howson, J.M.M., Jolley, J., Nutland, S., Stevens, H.E., Walker, N.M., Wallace, C., Dunger, D.B. & Todd, J.A.  (2014)  Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients.  Diabetologia 2014; 57, 366-372.
  7. Ferreira, R.C., Hui Guo, H., Coulson, R.M.R., Smyth, D., Pekalski, M.L., Burren, O.S., Cutler, A.J., Doecke, J.D., Flint, S., McKinney, E.F., Lyons, P.A., Smith, K.G.C.,  Achenbach, P., Beyerlein, A., Dunger, D.B.,  Wicker, L.S., Todd, J.A.,  Bonifacio, E., Wallace, C., & Ziegler, A.-G. (2014). A type I interferon transcriptional signature precedes autoimmunity in children genetically at-risk of type 1 diabetes. Diabetes. 2014 Feb 21. [Epub ahead of print].
  8. Nahorski M, Emery EC, Woods CG. Genetics of Pain Insensitivity. eLS. In press.
  9. Bui TH, Raymond FL, Van den Veyver IB. Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? Prenat Diagn. 2014 Jan;34(1):12-7. 
  10. Claire C. Homan1, Raman Kumar2, Lam Son Nguyen3, Eric Haan3,4, F. Lucy Raymond5, Fatima Abidi6, Martine Raynaud7, Charles Schwartz6, Stephen A. Wood8, Jozef Gecz2,3,9*and Lachlan A. Jolly3 Mutations in USP9X cause X-linked intellectual disability and disrupt neuronal cell migration and growth    Am J Human Genetics (In press).