Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Lee, E, Le, T, Zhu, Y, Elakis, G, Turner, A, Lo, W, Venselaar, H, Verrenkamp, C-A, Snow, N, Mowat, D, et al.
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Genetics in Medicine
20(9)
:
1061 -1068
2018
view publication
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Byrne, S, Jansen, L, U-King-Im, J-M, Siddiqui, A, Lidov, HGW, Bodi, I, Smith, L, Mein, R, Cullup, T, Dionisi-Vici, C, et al.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
139(3)
:
765 -781
2016
view publication
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Miyake, N, Tsurusaki, Y, Koshimizu, E, Okamoto, N, Kosho, T, Brown, NJ, Tan, TY, Yap, PJJ, Suzumura, H, Tanaka, T, et al.
Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations.
Clinical Genetics
89(1)
:
115 -119
2016
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Stark, Z, Behrsin, J, Burgess, T, Ritchie, A, Yeung, A, Tan, TY, Brown, NJ, Savarirayan, R, Patel, N.
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
American Journal of Medical Genetics Part A
167(10)
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2319 -2326
2015
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Coe, BP, Witherspoon, K, Rosenfeld, JA, van Bon, BWM, Vulto-van Silfhout, AT, Bosco, P, Friend, KL, Baker, C, Buono, S, Vissers, LELM, et al.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Nature Genetics
46(10)
:
1063 -1071
2014
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