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Preview	Issue Date	Title	Author(s)
	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	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.
	2015	HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.	Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
	2007	Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis	Anderson, P.; Cox, T.; Roscioli, T.; Elakis, G.; Smithers, L.; David, D.; Powell, B.
	2008	Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene	Garrido, E.; Cormand, B.; Hopwood, J.; Chabas, A.; Grinberg, D.; Vilageliu, L.
	2001	A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda	Tiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
	2004	Expression and functional characterization of human mutant sulfamidase in insect cells	Montfort, M.; Garrido, E.; Hopwood, J.; Grinberg, D.; Chabas, A.; Vilageliu, L.
	2007	Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor	McKenzie, O.; Ponte, I.; Mangelsdorf, M.; Finnis, M.; Colasante, G.; Shoubridge, C.; Stifani, S.; Gecz, J.; Broccoli, V.
	2004	Mutations of the mitochondrial ND1 gene as a cause of MELAS	Kirby, D.; McFarland, R.; Ohtake, A.; Dunning, C.; Ryan, M.; Wilson, C.; Ketteridge, D.; Turnbull, D.; Thorburn, D.; Taylor, R.