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PreviewIssue DateTitleAuthor(s)
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, 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.
1995Detection of circulating tumor cells in colorectal cancer by Immunobead-PCR is a sensitive prognostic marker for relapse of diseaseHardingham, J.; Kotasek, D.; Sage, R.; Eaton, M.; Pascoe, V.; Dobrovic, A.
2019GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in CameroonTingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
2019Alternative splicing in a presenilin 2 variant associated with Alzheimer diseaseBraggin, 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.
2023TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasmsShah, M.V.; Tran, E.N.H.; Shah, S.; Chhetri, R.; Baranwal, A.; Ladon, D.; Shultz, C.; Al-Kali, A.; Brown, A.L.; Chen, D.; Scott, H.S.; Greipp, P.; Thomas, D.; Alkhateeb, H.B.; Singhal, D.; Gangat, N.; Kumar, S.; Patnaik, M.M.; Hahn, C.N.; Kok, C.H.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, 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.
2011For 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 cancerWakefield, C.; Ratnayake, P.; Meiser, B.; Suthers, G.; Price, M.; Duffy, J.; Tucker, K.
2012Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trialFalchook, 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.
2007SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrumHerlenius, E.; Heron, S.; Grinton, B.; Keay, D.; Scheffer, I.; Mulley, J.; Berkovic, S.