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Preview	Issue Date	Title	Author(s)
	1998	A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.	Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
	1996	A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia	Donnelly, A.; Colley, A.; Crimmins, D.; Mulley, J.
	2001	Cloning and characterization of the human activity-dependent neuroprotective protein	Zamostiano, R.; Pinhasov, A.; Gelber, E.; Steingart, R.; Seroussi, E.; Giladi, E.; Bassan, M.; Wollman, Y.; Eyre, H.; Mulley, J.; Brenneman, D.; Gozes, I.
	2001	The molecular basis of X-linked spondyloepiphyseal dysplasia tarda	Gedeon, A.; Tiller, G.; Le Merrer, M.; Heuertz, S.; Tranebjaerg, L.; Chitayat, D.; Robertson, S.; Glass, I.; Savarirayan, R.; Cole, W.; Rimoin, D.; Kousseff, B.; Ohashi, H.; Zabel, B.; Munnich, A.; Gecz, J.; Mulley, J.
	2001	Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus	Wallace, R.; Scheffer, I.; Barnett, S.; Richards, M.; Dibbens, L.; Desai, R.; Lerman-Sagie, T.; Lev, D.; Mazarib, A.; Brand, N.; Ben-Zeev, B.; Goikhman, I.; Singh, R.; Kremmidiotis, G.; Gardner, A.; Sutherland, G.; George Jr., A.; Mulley, J.; Berkovic, S.
	1996	Identification of the gene FMR2, associated with FRAXE mental retardation	Gecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
	1998	Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.	Hollway, G.; Mulley, J.
	2004	Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy	Tan, N.; Heron, S.; Scheffer, I.; Pelekanos, J.; McMahon, J.; Vears, D.; Mulley, J.; Berkovic, S.
	2003	Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms	Wallace, R.; Hodgson, B.; Grinton, B.; Gardiner, R.; Robinson, R.; Rodriguez-Casero, V.; Sadleir, L.; Morgan, J.; Harkin, L.; Dibbens, L.; Yamamoto, T.; Andermann, E.; Mulley, J.; Berkovic, S.; Scheffer, I.
	2006	A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A	Mulley, J.; Nelson, P.; Guerrero, S.; Dibbens, L.; Iona, X.; McMahon, J.; Harkin, L.; Schouten, J.; Yu, S.; Berkovic, S.; Scheffer, I.