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Preview	Issue Date	Title	Author(s)
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van 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.
	2012	Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)	Johnston, C.; O'Leary, M.; Brown, S.; Currie, B.; Halkidis, L.; Whitaker, R.; Close, B.; Isbister, G.; Nagree, Y.; Ker, F.; Greene, S.; Taylor, M.; Macrokanis, C.; Wilke, G.; Coulson, A.; Barnes, C.; Bonni, R.; Whitake, R.; Halkidis, L.; Isbiste, G.; et al.; de Silva, J.
	2010	Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase	Harmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.
	2013	Mutations in DEPDC5 cause familial focal epilepsy with variable foci	Dibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
	2002	ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation	Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
	2007	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor	Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
	2012	A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010	Lim, S.; Vos, T.; Flaxman, A.; Danaei, G.; Shibuya, K.; Adair-Rohani, H.; AlMazroa, M.; Amann, M.; Anderson, H.; Andrews, K.; Aryee, M.; Atkinson, C.; Bacchus, L.; Bahalim, A.; Balakrishnan, K.; Balmes, J.; Barker-Collo, S.; Baxter, A.; Bell, M.; Blore, J.; et al.
	2016	Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia	Irving, J.; Enshaei, A.; Parker, C.; Sutton, R.; Kuiper, R.; Erhorn, A.; Minto, L.; Venn, N.; Law, T.; Yu, J.; Schwab, C.; Davies, R.; Matheson, E.; Davies, A.; Sonneveld, E.; Den Boer, M.; Love, S.; Harrison, C.; Hoogerbrugge, P.; Revesz, T.; et al.
	2015	Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study	Mirzaa, G.M.; Conti, V.; Timms, A.E.; Smyser, C.D.; Ahmed, S.; Carter, M.; Barnett, S.; Hufnagel, R.B.; Goldstein, A.; Narumi-Kishimoto, Y.; Olds, C.; Collins, S.; Johnston, K.; Deleuze, J.F.; Nitschké, P.; Friend, K.; Harris, C.; Goetsch, A.; Martin, B.; Boyle, E.A.; et al.
	2012	Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010	Murray, C.; Vos, T.; Lozano, R.; Naghavi, M.; Flaxman, A.; Michaud, C.; Ezzati, M.; Shibuya, K.; Salomon, J.; Abdalla, S.; Aboyans, V.; Abraham, J.; Ackerman, I.; Aggarwal, R.; Ahn, S.; Ali, M.; Alvarado, M.; Anderson, H.; Anderson, L.; Andrews, K.; et al.