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Preview	Issue Date	Title	Author(s)
	2008	Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency	Bailey, L.; Ivanov, R.; Jitrapakdee, S.; Wilson, C.; Wallace, J.; Polyak, S.
	2002	A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype	Cundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
	2007	Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly	Field, M.; Tarpey, P.; Smith, R.; Edkins, S.; O'Meara, S.; Stevens, C.; Tofts, C.; Teague, J.; Butler, A.; Dicks, E.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; Mironenko, T.; et al.
	2002	Sodium-channel defects in benign familial neonatal-infantile seizures	Heron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
	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.
	2007	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation	Tarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
	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.