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Preview	Issue Date	Title	Author(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.
	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	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.
	2003	Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population	Nicholls, C.; Nelson, P.; Poplawski, N.; Chin, S.; Fong, B.; Solly, P.; Fietz, M.; Fletcher, J.
	2001	Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene	Bell, R.; Brice, G.; Child, A.; Murday, V.; Mansour, S.; Sandy, C.; Collin, J.; Brady, A.; Callen, D.; Burnand, K.; Mortimer, P.; Jeffery, S.
	2006	De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study	Berkovic, S.; Harkin, L.; McMahon, J.; Pelekanos, J.; Zuberi, S.; Wirrell, E.; Gill, D.; Iona, X.; Mulley, J.; Scheffer, I.
	2001	CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy	Phillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; 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.
	2002	Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome	Lower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
	2002	Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy	Stromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.