Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Chopra, M, McEntagart, M, Clayton-Smith, J, Platzer, K, Shukla, A, Girisha, KM, Kaur, A, Kaur, P, Pfundt, R, Veenstra-Knol, H, et al.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
American Journal of Human Genetics
108(6)
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1138 -1150
2021
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Rummey, C, Flynn, JM, Corben, LA, Delatycki, MB, Wilmot, G, Subramony, SH, Bushara, K, Duquette, A, Gomez, CM, Hoyle, JC, et al.
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
Annals of Clinical and Translational Neurology
8(6)
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1239 -1250
2021
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Cousens, NE, Tiller, J, Meiser, B, Barlow-Stewart, K, Rowley, S, Ko, Y-A, Mahale, S, Campbell, IG, Kaur, R, Bankier, A, et al.
Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper.
BMJ Open
11(6)
:
e041186
2021
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Ngo, T, Pathirana, PN, Horne, MK, Power, L, Szmulewicz, DJ, Milne, SC, Corben, LA, Roberts, M, Delatycki, MB.
Balance Deficits due to Cerebellar Ataxia: A Machine Learning and Cloud-Based Approach.
IEEE Transactions on Biomedical Engineering
68(5)
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1507 -1517
2021
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Jarmolowicz, AI, Baker, EK, Bartlett, E, Francis, D, Ling, L, Gamage, D, Delatycki, MB, Godler, DE.
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
American Journal of Medical Genetics Part A
185(5)
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1498 -1503
2021
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