| Preview | Issue Date | Title | Author(s) |
| 2010 | A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C | Jensen, L.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A.; Janecke, A.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.; Chelly, J.; de Brouwer, A.; Hamel, B.; Gecz, J.; Ropers, H.; Kuss, A. |
| 2012 | A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability | Huang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J. |
| 2015 | A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A | Corbett, M.A.; Dudding-Byth, T.; Crock, P.A.; Botta, E.; Christie, L.M.; Nardo, T.; Caligiuri, G.; Hobson, L.; Boyle, J.; Mansour, A.; Friend, K.L.; Crawford, J.; Jackson, G.; Vandeleur, L.; Hackett, A.; Tarpey, P.; Stratton, M.R.; Turner, G.; Gecz, J.; Field, M. |
| 2010 | CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes | Hackett, A.; Tarpey, P.; Licata, A.; Cox, J.; Whibley, A.; Boyle, J.; Rogers, C.; Grigg, J.; Partington, M.; Stevenson, R.; Tolmie, J.; Yates, J.; Turner, G.; Wilson, M.; Futreal, P.; Corbett, M.; Shaw, M.; Gecz, J.; Raymond, F.; Stratton, M. |
| 2012 | CCDC22: a novel candidate gene for syndromic X-linked intellectual disability | Voineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D. |
| 2021 | Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability | Field, M.J.; Sharma, R.; Hackett, A.; Kayumi, S.; Shoubridge, C.; Ewans, L.J.; Ivancevic, A.M.; Dudding-Byth, T.; Carroll, R.; Kroes, T.; Gardner, A.E.; Sullivan, P.; Ha, T.T.; Schwartz, C.E.; Cowley, M.J.; Dinger, M.E.; Palmer, E.E.; Christie, L.; Shaw, M.; Roscioli, T.; et al. |
| 2010 | Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability | Whibley, 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. |
| 2007 | Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor | Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al. |
| 2011 | Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 | Jensen, L.; Wei, C.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V.; Meloni, I.; Raynaud, M.; Van Esch, H.; Chelly, J.; de Brouwer, A.; Hackett, A.; van der Haar, S.; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; et al. |
| 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. |
