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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.
	2003	X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3	Gedeon, A.; Nelson, J.; Gecz, J.; Mulley, J.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2016	Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders	Moey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
	2005	Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation	Jensen, L.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.; Tariverdian, G.; Chelly, J.; Fryns, J.; Van Esch, H.; Kleefstra, T.; Hamel, B.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.; Ropers, H.; Lenzer, S.
	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.
	2005	Early onset seizures and Rett-like features associated with mutations in CDKL5	Evans, J.; Archer, H.; Colley, J.; Ravn, K.; Nielsen, J.; Kerr, A.; Williams, E.; Christodoulou, J.; Gecz, J.; Jardine, P.; Wright, M.; Pilz, D.; Lazarou, L.; Cooper, D.; Sampson, J.; Butler, R.; Whatley, S.; Clarke, A.
	2006	ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation	Lugtenberg, D.; Yntema, H.; Banning, M.; Oudakker, A.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; van Reeuwijk, J.; Nabuurs, S.; de Vries, B.; Hamel, B.; de Brouwer, A.; van Bokhoven, H.
	2002	X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX	Scheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
	2016	Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy	Corbett, M.A.; Bellows, S.T.; Li, M.; Carroll, R.; Micallef, S.; Carvill, G.L.; Myers, C.T.; Howell, K.B.; Maljevic, S.; Lerche, H.; Gazina, E.V.; Mefford, H.C.; Bahlo, M.; Berkovic, S.F.; Petrou, S.; Scheffer, I.E.; Gecz, J.