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PreviewIssue DateTitleAuthor(s)
2015Cerebral palsy: causes, pathways, and the role of genetic variantsMacLennan, A.; Thompson, S.; Gecz, J.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-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.
2015Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalHaines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; ├Ľunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
2015Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disabilityGrozeva, 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.
2015Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsyMcMichael, G.; Bainbridge, M.; Haan, E.; Corbett, M.; Gardner, A.; Thompson, S.; Van Bon, B.; Van Eyk, C.; Broadbent, J.; Reynolds, C.; O'Callaghan, M.; Nguyen, L.; Adelson, D.; Russo, R.; Jhangiani, S.; Doddapaneni, H.; Muzny, D.; Gibbs, R.; Gecz, J.; MacLennan, A.
2015Developmental disorders: deciphering exomes on a grand scaleGecz, J.; Corbett, M.
2015A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113ACorbett, M.; Dudding-Byth, T.; Crock, P.; Botta, E.; Christie, L.; Nardo, T.; Caligiuri, G.; Hobson, L.; Boyle, J.; Mansour, A.; Friend, K.; Crawford, J.; Jackson, G.; Vandeleur, L.; Hackett, A.; Tarpey, P.; Stratton, M.; Turner, G.; Gecz, J.; Field, M.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.