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Preview	Issue Date	Title	Author(s)
	2007	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation	Tarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; 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.
	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.
	1997	Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever	Aksentijevich, I.; Centola, M.; Deng, Z.; Sood, R.; Balow, J.; Wood, G.; Zaks, N.; Mansfield, E.; Chen, X.; Eisenberg, S.; Vedula, A.; Shafran, N.; Raben, N.; Pras, E.; Pras, M.; Kastner, D.; Blake, T.; Baxevanis, A.; Robbins, C.; Krizman, D.; et al.
	1999	Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes	McDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.M.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; et al.
	2003	Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene	Davis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al.