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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.
1998Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3Centola, M.; Chen, X.; Sood, R.; Deng, Z.; Aksentijevich, I.; Blake, T.; Ricke, D.; Chen, X.; Wood, G.; Zaks, N.; Richards, N.; Krizman, D.; Mansfield, E.; Apostolou, S.; Liu, J.; Shafran, N.; Vedula, A.; Hamon, M.; Cercek, A.; Kahan, T.; et al.
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.
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.
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.
2013Global sampling of plant roots expands the described molecular diversity of arbuscular mycorrhizal fungiOpik, M.; Zobel, M.; Cantero, J.; Davison, J.; Facelli, J.; Hiiesalu, I.; Jairus, T.; Kalwij, J.; Koorem, K.; Leal, M.; Liira, J.; Metsis, M.; Neshtaeva, V.; Paal, J.; Phosri, C.; Polme, S.; Reier, U.; Saks, U.; Schimann, H.; Thiery, O.; et al.
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.

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