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PreviewIssue DateTitleAuthor(s)
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.
2015THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disabilityKumar, 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.
2010Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityWhibley, A.; Plagnol, V.; Tarpey, P.; Abidi, F.; Fullston, T.; Choma, M.; Boucher, C.; Shepherd, L.; Willatt, L.; Parkin, G.; Smith, R.; Futreal, P.; Shaw, M.; Boyle, J.; Licata, A.; Skinner, C.; Stevenson, R.; Turner, G.; Field, M.; Hackett, A.; et al.
2010Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityShoubridge, 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.
2012Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disabilityNguyen, 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.