Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Galea, CA, Huq, A, Lockhart, PJ, Tai, G, Corben, LA, Yiu, EM, Gurrin, LC, Lynch, DR, Gelbard, S, Durr, A, et al.
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Annals of Neurology
79(3)
:
485 -495
2016
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Sim, JC, Scerri, T, Fanjul-Fernández, M, Riseley, JR, Gillies, G, Pope, K, van Roozendaal, H, Heng, JI, Mandelstam, SA, McGillivray, G, et al.
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Annals of Neurology
79(1)
:
132 -137
2016
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Harding, IH, Corben, LA, Storey, E, Egan, GF, Stagnitti, MR, Poudel, GR, Delatycki, MB, Georgiou-Karistianis, N.
Fronto‐cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE‐FRDA study.
Human Brain Mapping
37(1)
:
338 -350
2016
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Thompson, ER, Gorringe, KL, Rowley, SM, Wong-Brown, MW, McInerny, S, Li, N, Trainer, AH, Devereux, L, Doyle, MA, Li, J, et al.
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Breast Cancer Research
17(1)
:
111
2015
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Ioannou, L, Delatycki, MB, Massie, J, Hodgson, J, Lewis, S.
“Suddenly Having two Positive People who are Carriers is a Whole New Thing”‐ Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population‐Based Carrier Screening Program in Australia.
Journal of Genetic Counseling
24(6)
:
987 -1000
2015
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