Showing results 10 to 16 of 16
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Preview | Issue Date | Title | Author(s) |
| 2010 | Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation | Rujirabanjerd, S.; Nelson, J.; Tarpey, P.; Hackett, A.; Edkins, S.; Raymond, F.; Schwartz, C.; Turner, G.; Iwase, S.; Shi, Y.; Futreal, P.; Stratton, M.; Gecz, J. |
| 2012 | Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? | Shoubridge, C.; Gardner, A.; Schwartz, C.; Hackett, A.; Field, M.; Gecz, J. |
| 2010 | Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability | Shoubridge, C.; Tarpey, P.; Abidi, F.; Ramsden, S.; Rujirabanjerd, S.; Murphy, J.; Boyle, J.; Shaw, M.; Gardner, A.; Proos, A.; Puusepp, H.; Raymond, F.; Schwartz, C.; Stevenson, R.; Turner, G.; Field, M.; Walikonis, R.; Harvey, R.; Hackett, A.; Futreal, P.; et al. |
| 2015 | Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis | Ramos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al. |
| 2015 | Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability | Grozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al. |
| 2015 | THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability | Kumar, R.; Corbett, M.; Van Bon, B.; Woenig, J.; Weir, L.; Douglas, E.; Friend, K.; Gardner, A.; Shaw, M.; Jolly, L.; Tan, C.; Hunter, M.; Hackett, A.; Field, M.; Palmer, E.; Leffler, M.; Rogers, C.; Boyle, J.; Bienek, M.; Jensen, C.; et al. |
| 2012 | Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability | Nguyen, L.; Jolly, L.; Shoubridge, C.; Chan, W.; Huang, L.; Laumonnier, F.; Raynaud, M.; Hackett, A.; Field, M.; Rodriguez, J.; Srivastava, A.; Lee, Y.; Long, R.; Addington, A.; Rapaport, J.; Suren, S.; Hahn, C.; Gamble, J.; Wilkinson, M.; Corbett, M.; et al. |