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Preview	Issue Date	Title	Author(s)
	2000	FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations	Gecz, J.
	2017	Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling	Hughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
	1998	Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype	Yamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
	1997	Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)	Bunge, S.; Ince, H.; Steglich, C.; Kleijer, W.; Beck, M.; Zaremba, J.; van Diggelen, O.; Weber, B.; Hopwood, J.; Gal, A.
	2004	Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy	Yogalingam, G.; Guo, X.; Muller, V.; Brooks, D.; Clements, P.; Kakkis, E.; Hopwood, J.
	2001	Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of a-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation	Keeling, K.; Brooks, D.; Hopwood, J.; Li, P.; Thompson, J.; Bedwell, D.
	1998	Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene	Gibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
	2005	Enzyme replacement therapy for Gaucher disease in Australia	Goldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
	2003	Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype	Maxwell, M.; Bjorkman, J.; Nguyen, T.; Sharp, P.; Finnie, J.; Paterson, C.; Tonks, I.; Paton, B.; Kay, G.; Crane, D.
	2012	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing	Calvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.