White, R, Ho, G, Schmidt, S, Scheffer, IE, Fischer, A, Yendle, SC, Bienvenu, T, Nectoux, J, Ellaway, CJ, Darmanian, A, et al. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.. Twin Res Hum Genet 13(2) : 168 -178 2010
view publication
Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, et al. Updating the profile of C-terminal MECP2 deletions in Rett syndrome.. J Med Genet 47(4) : 242 -248 2010
view publication
Hynes, K, Tarpey, P, Dibbens, LM, Bayly, MA, Berkovic, SF, Smith, R, Raisi, ZA, Turner, SJ, Brown, NJ, Desai, TD, et al. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.. J Med Genet 47(3) : 211 -216 2010
view publication
Harikrishnan, KN, Bayles, R, Ciccotosto, GD, Maxwell, S, Cappai, R, Pelka, GJ, Tam, PPL, Christodoulou, J, El-Osta, A. Alleviating transcriptional inhibition of the norepinephrine slc6a2 transporter gene in depolarized neurons.. J Neurosci 30(4) : 1494 -1501 2010
view publication
Christodoulou, J. Evolution of the RCPA-HGSA molecular genetics quality assurance program: partnership in action. Pathology 42: s5 -s6 2010
view publication