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Preview	Issue Date	Title	Author(s)
	2007	Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus	Raymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
	2015	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy	Muona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
	2015	Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures	Yamamoto, T.; Shimojima, K.; Sangu, N.; Komoike, Y.; Ishii, A.; Abe, S.; Yamashita, S.; Imai, K.; Kubota, T.; Fukasawa, T.; Okanishi, T.; Enoki, H.; Tanabe, T.; Saito, A.; Furukawa, T.; Shimizu, T.; Milligan, C.; Petrou, S.; Heron, S.; Dibbens, L.; et al.; Ishii, R.
	2014	Refining analyses of copy number variation identifies specific genes associated with developmental delay	Coe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
	2016	Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulation	Gingras, M.; Chang, D.; Donehower, L.; Covington, K.; Gill, A.; Ittmann, M.; Creighton, C.; Johns, A.; Shinbrot, E.; Dewal, N.; Fisher, W.; Pilarsky, C.; Grützmann, R.; Overman, M.; Jamieson, N.; Van Buren, G.; Drummond, J.; Walker, K.; Hampton, O.; Xi, L.; et al.
	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.
	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.
	2008	Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation	Froyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; 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.
	2010	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome	Hoischen, A.; Van Bon, B.; Gilissen, C.; Arts, P.; van Lier, B.; Steehouwer, M.; de Vries, P.; de Reuver, R.; Wieskamp, N.; Mortier, G.; Devriendt, K.; Amorim, M.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Olay, C.; Henderson, A.; Hayes, I.; et al.