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PreviewIssue DateTitleAuthor(s)
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, 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.
2015Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresYamamoto, 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.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, 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.
1999Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesMcDermott, 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.

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