Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Mand, CM, Gillam, L, Duncan, RE, Delatycki, MB.
“I’m scared of being like mum”: The Experience of Adolescents Living in Families with Huntington Disease.
Journal of Huntington's Disease
4(3)
:
209 -217
2015
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Sim, JCH, White, SM, Fitzpatrick, E, Wilson, GR, Gillies, G, Pope, K, Mountford, HS, Torring, PM, McKee, S, Vulto-van Silfhout, AT, et al.
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Orphanet Journal of Rare Diseases
9(1)
:
43
2014
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Wilson, GR, Sim, JCH, McLean, C, Giannandrea, M, Galea, CA, Riseley, JR, Stephenson, SEM, Fitzpatrick, E, Haas, SA, Pope, K, et al.
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology.
American Journal of Human Genetics
95(6)
:
729 -735
2014
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Milne, SC, Hocking, DR, Georgiou-Karistianis, N, Murphy, A, Delatycki, MB, Corben, LA.
Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia.
The Cerebellum
13(6)
:
677 -688
2014
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Delatycki, MB, Burke, J, Christie, L, Collins, F, Gabbett, M, George, P, Haan, E, Ioannou, L, Martin, N, McKenzie, F, et al.
Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis.
Twin Research and Human Genetics
17(6)
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578 -583
2014
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