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Preview	Issue Date	Title	Author(s)
	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.
	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	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.
	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.
	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.
	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.
	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.
	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.
	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.
	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.