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Preview	Issue Date	Title	Author(s)
	2010	A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24	Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
	2011	Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma	Khan, K.; Rudkin, A.; Parry, D.; Burdon, K.; McKibbin, M.; Logan, C.; Abdelhamed, Z.; Muecke, J.; Fernandez-Fuentes, N.; Laurie, K.; Shires, M.; Fogarty, R.; Carr, I.; Poulter, J.; Morgan, J.; Mohamed, M.; Jafri, H.; Raashid, Y.; Meng, N.; Piseth, H.; et al.
	2010	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly	Giannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
	2004	Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activation	Yan, X.; Forbes, B.; McNeil, K.; Baxter, R.; Firth, S.
	2008	AIRE'S CARD revealed, a new structure for the central tolerance provokes transcriptional plasticity	Ferguson, B.; Alexander, C.; Rossi, S.; Liiv, I.; Rebane, A.; Worth, C.; Wong, J.; Laan, M.; Peterson, P.; Jenkinson, E.; Anderson, G.; Scott, H.; Cooke, A.; Rich, T.
	2005	Mutation of the androgen receptor causes oncogenic transformation of the prostate	Han, G.; Buchanan, G.; Ittmann, M.; Harris, J.; Yu, X.; DeMayo, F.; Tilley, W.; Greenberg, N.
	2004	Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation	Weaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J.
	2003	Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation	Burdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
	2002	Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome	Lower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
	2002	Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy	Stromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.