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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.
	2000	A de novo mutation in sporadic nocturnal frontal lobe epilepsy	Phillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.
	2019	Alternative splicing in a presenilin 2 variant associated with Alzheimer disease	Braggin, J.E.; Bucks, S.A.; Course, M.M.; Smith, C.L.; Sopher, B.; Osnis, L.; Shuey, K.D.; Domoto-Reilly, K.; Caso, C.; Kinoshita, C.; Scherpelz, K.P.; Cross, C.; Grabowski, T.; Nik, S.H.M.; Newman, M.; Garden, G.A.; Leverenz, J.B.; Tsuang, D.; Latimer, C.; Gonzalez-Cuyar, L.F.; 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.
	2013	Mutations in DEPDC5 cause familial focal epilepsy with variable foci	Dibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
	2011	For all my family's sake, I should go and find out: An Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer	Wakefield, C.; Ratnayake, P.; Meiser, B.; Suthers, G.; Price, M.; Duffy, J.; Tucker, K.
	2012	Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial	Falchook, G.; Long, G.; Kurzrock, R.; Kim, K.; Arkenau, T.; Brown, M.; Hamid, O.; Infante, J.; Millward, M.; Pavlick, A.; O'Day, S.; Blackman, S.; Curtis, C.; Lebowitz, P.; Ma, B.; Ouellet, D.; Kefford, R.
	2007	A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel	Xu, R.; Thomas, E.; Jenkins, M.; Gazina, E.; Chiu, C.; Heron, S.; Mulley, J.; Scheffer, I.; Berkovic, S.; Petrou, S.
	2008	Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation	Turner, G.; Boyle, J.; Partington, M.; Kerr, B.; Raymond, F.; Gecz, J.