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Preview	Issue Date	Title	Author(s)
	2008	A novel locus for X-linked congenital cataract on Xq24	Craig, J.; Friend, K.; Gecz, J.; Rattray, K.; Trotski, M.; Mackey, D.; Burdon, K.
	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.
	2000	Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome	Villard, L.; Fontes, M.; Ades, L.; Gecz, J.
	2002	Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation	Turner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
	2013	ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity	Hirata, H.; McMichael, G.; Haan, E.; MacLennan, A.; Yap, T.; Nguyen, L.; Shaw, M.; Gecz, J.
	2004	Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia	Shaw, M.; Gecz, J.; McDonough, B.; Hodess, A.; Harter, D.
	2015	HCFC1 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.
	2014	Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations	Scheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
	2008	Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes	Jaekle Santos, L.; Xing, C.; Barnes, R.; Ades, L.; Megarbane, A.; Vidal, C.; Xuereb, A.; Tarpey, P.; Smith, R.; Khazab, M.; Shoubridge, C.; Partington, M.; Futreal, P.; Stratton, M.; Gecz, J.; Zinn, A.
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.