Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Stutterd, CA, Vanderver, A, Lockhart, PJ, Helman, G, Pope, K, Uebergang, E, Love, C, Delatycki, MB, Thorburn, D, Mackay, MT, et al.
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
European Journal of Medical Genetics
65(9)
:
104551
2022
view publication
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Righetti, S, Allcock, RJN, Yaplito-Lee, J, Adams, L, Ellaway, C, Jones, KJ, Selvanathan, A, Fletcher, J, Pitt, J, van Kuilenburg, ABP, et al.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Molecular Genetics and Metabolism
137(1-2)
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62 -67
2022
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Tiller, JM, Keogh, LA, McInerney-Leo, AM, Belcher, A, Barlow-Stewart, K, Boughtwood, T, Gleeson, P, Dowling, G, Prince, A, Bombard, Y, et al.
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium.
Journal of Medical Genetics
59(8)
:
817 -826
2022
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Cloney, T, Gallacher, L, Pais, LS, Tan, NB, Yeung, A, Stark, Z, Brown, NJ, McGillivray, G, Delatycki, MB, de Silva, MG, et al.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program.
Journal of Medical Genetics
59(8)
:
748 -758
2022
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Barbier, M, Bahlo, M, Pennisi, A, Jacoupy, M, Tankard, RM, Ewenczyk, C, Davies, KC, Lino‐Coulon, P, Colace, C, Rafehi, H, et al.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Annals of Neurology
92(1)
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122 -137
2022
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