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PreviewIssue DateTitleAuthor(s)
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, 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.
2017Dominant protection from HLA-linked autoimmunity by antigen-specific regulatory T cellsOoi, J.; Petersen, J.; Tan, Y.; Huynh, M.; Willett, Z.; Ramarathinam, S.; Eggenhuizen, P.; Loh, K.; Watson, K.; Gan, P.; Alikhan, M.; Dudek, N.; Handel, A.; Hudson, B.; Fugger, L.; Power, D.; Holt, S.; Coates, P.; Gregersen, J.; Purcell, A.; et al.
2015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMuona, 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.
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.
2009Sequence variants in three loci influence monocyte counts and erythrocyte volumeFerreira, M.; Hottenga, J.; Warrington, N.; Medland, S.; Willemsen, G.; Lawrence, R.; Gordon, S.; de Geus, E.; Henders, A.; Smit, J.; Campbell, M.; Wallace, L.; Evans, D.; Wright, M.; Nyholt, D.; James, A.; Beilby, J.; Penninx, B.; Palmer, L.; Frazer, I.; et al.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, 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.
2016Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulationGingras, 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.
2013Distinctive expansion of potential virulence genes in the genome of the oomycete fish pathogen Saprolegnia parasiticaJiang, R.; de Bruijn, I.; Haas, B.; Belmonte, R.; Löbach, L.; Christie, J.; van den Ackerveken, G.; Bottin, A.; Bulone, V.; Díaz-Moreno, S.; Dumas, B.; Fan, L.; Gaulin, E.; Govers, F.; Grenville-Briggs, L.; Horner, N.; Levin, J.; Mammella, M.; Meijer, H.; Morris, P.; et al.; McDowell, J.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, 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.
2011Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKhan, 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.