Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Milne, SC, Corben, LA, Roberts, M, Szmulewicz, D, Burns, J, Grobler, AC, Williams, S, Chua, J, Liang, C, Lamont, PJ, et al.
Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.
BMJ Open
10(12)
:
e040230
2020
view publication
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Gjorgioski, S, Halliday, J, Riley, M, Amor, DJ, Delatycki, MB, Bankier, A.
Genetics and pediatric hospital admissions, 1985 to 2017.
Genetics in Medicine
22(11)
:
1777 -1785
2020
view publication
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Tan, NB, Stapleton, R, Stark, Z, Delatycki, MB, Yeung, A, Hunter, MF, Amor, DJ, Brown, NJ, Stutterd, CA, McGillivray, G, et al.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Molecular Genetics & Genomic Medicine
8(11)
:
e1508
2020
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Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, de Silva, MG, 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.
Obstetrical & Gynecological Survey
75(11)
:
662 -664
2020
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Shepherd, RF, Keogh, LA, Werner‐Lin, A, Delatycki, MB, Forrest, LE.
Health professionals’ practice for young people with, or at risk of, Li–Fraumeni syndrome: An Australasian survey.
Journal of Genetic Counseling
29(5)
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737 -747
2020
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