Wolf, NI, Toro, C, Kister, I, Latif, KA, Leventer, R, Pizzino, A, Simons, C, Abbink, TEM, Taft, RJ, van der Knaap, MS, et al. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.. Neurology 84(3) : 226 -230 2015
view publication
Simons, C, Rash, LD, Crawford, J, Ma, L, Cristofori-Armstrong, B, Miller, D, Ru, K, Baillie, GJ, Alanay, Y, Jacquinet, A, et al. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.. Nat Genet 47(1) : 73 -77 2015
view publication
Hunt, D, Leventer, RJ, Simons, C, Taft, R, Swoboda, KJ, Gawne-Cain, M, DDD study, Magee, AC, Turnpenny, PD, Baralle, D. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.. J Med Genet 51(12) : 806 -813 2014
view publication
Pizzino, A, Pierson, TM, Guo, Y, Helman, G, Fortini, S, Guerrero, K, Saitta, S, Murphy, JLP, Padiath, Q, Xie, Y, et al. TUBB4A de novo mutations cause isolated hypomyelination.. Neurology 83(10) : 898 -902 2014
view publication
Hamilton, EM, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguž, AB, Blumkin, L, H-ABC Research Group, van Berkel, CGM, et al. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.. Brain 137(Pt 7) : 1921 -1930 2014
view publication