Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ, Bahlo, M.
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data.
Movement Disorders
35(9)
:
1675 -1679
2020
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Krishna, R, Pathirana, PN, Corben, LA, Horne, M, Delatycki, MB, Szmulewicz, DJ.
Quantitative Assessment of Friedreich Ataxia through the self-drinking activity.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)
00:
820 -823
2020
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Nguyen, KD, Corben, LA, Pathirana, PN, Horne, MK, Delatycki, MB, Szmulewicz, DJ.
Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)
00:
3827 -3830
2020
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Flagship, AGHAAC, Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, et al.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
323(24)
:
2503 -2511
2020
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Zaoui, P, Chin, M, Delatycki, M, Giunti, P, Goldsberry, A, Meyer, C, O'Grady, M, Perlman, S, Subramony, SH, Zesiewicz, T, et al.
P0222KIDNEY EFFECTS IN THE MOXIE TRIAL: A STUDY OF OMAVELOXOLONE IN PATIENTS WITH FRIEDRICH'S ATAXIA.
Nephrology Dialysis Transplantation
35(Supplement_3)
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2020
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