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PreviewIssue DateTitleAuthor(s)
2017A genetic screen for impaired systemic RNAi highlights the crucial role of DICER-LIKE 2Taochy, C.; Gursanscky, N.; Cao, J.; Fletcher, S.; Dressel, U.; Mitter, N.; Tucker, M.; Koltunow, A.; Bowman, J.; Vaucheret, H.; Carroll, B.
2017Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patientVenugopal, P.; Moore, S.; Lawrence, D.; George, A.; Hannan, R.; Bray, S.; To, L.; D Andrea, R.; Feng, J.; Tirimacco, A.; Yeoman, A.; Young, C.; Fine, M.; Schreiber, A.; Hahn, C.; Barnett, C.; Saxon, B.; Scott, H.
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2013Rice GLYCOSYLTRANSFERASE1 encodes a glycosyltransferase essential for pollen wall formationMoon, S.; Kim, S.; Zhao, G.; Yi, J.; Yoo, Y.; Jin, P.; Lee, S.; Jung, K.; Zhang, D.; An, G.
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2015Grapevine and Arabidopsis cation-chloride cotransporters localize to the Golgi and trans-Golgi network and indirectly influence long-distance ion transport and plant salt toleranceHenderson, S.; Wege, S.; Qiu, J.; Blackmore, D.; Walker, A.; Tyerman, S.; Walker, R.; Gilliham, M.
2016Predictability of phenotype in relation to common β-lactam resistance mechanisms in Escherichia coli and Klebsiella pneumoniaeAgyekum, A.; Fajardo-Lubián, A.; Ai, X.; Ginn, A.; Zong, Z.; Guo, X.; Turnidge, J.; Partridge, S.; Iredell, J.; Ledeboer, N.
2015Mutational analysis of the major periplasmic loops of Shigella flexneri Wzy; identification of the residues affecting O antigen modal chain length control, and Wzz dependent polymerisation activityNath, P.; Morona, R.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.