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Preview	Issue Date	Title	Author(s)
	1995	Fragile X syndrome and other dynamic mutation diseases	Sutherland, G.; Richards, R.
	2008	Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform	Sharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
	2001	Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for Australia	Goldwater, P.
	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.
	2012	CDP-diacylglycerol synthetase-controlled phosphoinositide availability limits VEGFA signaling and vascular morphogenesis	Pan, W.; Pham, V.; Stratman, A.; Castranova, D.; Kamei, M.; Kidd, K.; Lo, B.; Shaw, K.; Torres-Vazquez, J.; Mikelis, C.; Gutkind, J.; Davis, G.; Weinstein, B.
	2004	Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A	Muschol, N.; Storch, S.; Balhausen, D.; Beesley, C.; Westermann, J.; Gal, A.; Ullrich, K.; Hopwood, J.; Winchester, B.; Braulke, T.
	2004	Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons	Colombo, E.; Galli, R.; Cossu, G.; Gecz, J.; Broccoli, V.
	2001	Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase	Litjens, T.; Hopwood, J.
	2012	A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability	Huang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
	2004	Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II	Hermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.