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Preview	Issue Date	Title	Author(s)
	2005	Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)	Swiedler, S.; Beck, M.; Bajbouj, M.; Giugliani, R.; Schwartz, I.; Harmatz, P.; Wraith, J.; Roberts, J.; Ketteridge, D.; Hopwood, J.; Guffon, N.; Miranda, C.; Teles, E.; Berger, K.; Piscia-Nichols, C.
	2006	FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited	Ades, L.; Sullivan, K.; Biggin, A.; Haan, E.; Brett, M.; Holman, K.; Dixon, J.; Robertson, S.; Holmes, A.; Rogers, J.; Bennetts, B.
	2002	The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment	Gaustadnes, M.; Wilcken, B.; Oliveriusova, J.; McGill, J.; Fletcher, J.; Kraus, J.; Wilcken, D.
	1998	Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2	Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, 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.
	2013	Phenotype and genotype in 101 males with X-linked creatine transporter deficiency	van de Kamp, J.; Bratkovic, D.; Poplawski, N.
	2014	Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations	Scheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
	2018	A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk	Redondo, M.J.; Geyer, S.; Steck, A.K.; Sharp, S.; Wentworth, J.M.; Weedon, M.N.; Antinozzi, P.; Sosenko, J.; Atkinson, M.; Pugliese, A.; Oram, R.A.; Type 1 Diabetes TrialNet Study Group,
	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.
	2008	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome	Gilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.