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Preview	Issue Date	Title	Author(s)
	2007	The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene	Schwartz, C.; Tarpey, P.; Lubs, H.; Verloes, A.; May, M.; Risheg, H.; Friez, M.; Futreal, P.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensin, R.; Joseph, S.; Jones, J.; Gecz, J.; Stratton, M.; Raymond, F.; Stevenson, R.
	2019	GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon	Tingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
	1998	Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B	Wallace, R.; Wang, D.; Singh, R.; Scheffer, I.; George Jnr., A.; Phillips, H.; Saar, K.; Reis, A.; Johnson, E.; Sutherland, G.; Berkovic, S.; Mulley, J.
	1995	X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome	Gedeon, A.; Wilson, M.; Colley, A.; Sillence, D.; Mulley, J.
	1999	Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda	Gedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
	1996	Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann syndrome	Gedeon, A.; Kozman, H.; Robinson, H.; Pilia, G.; Schlessinger, D.; Turner, G.; Mulley, J.
	1996	Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation	Gedeon, A.; Glass, I.; Connor, J.; Mulley, J.
	1999	Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM	Friend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
	1998	Deafness due to Pro250Arg mutation of FGFR3	Hollway, G.; Suthers, G.; Battese, K.; Turner, A.; David, D.; Mulley, J.
	1998	Gene localisation for an autosomal dominant familial periodic fever to 12p13.	Mulley, J.; Saar, K.; Hewitt, G.; Rueschendorf, F.; Phillips, H.; Colley, A.; Sillence, D.; Reis, A.; Wilson, M.