Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Garza, D, Hildebrand, MS, Penington, AJ, Brown, N, Silva, MG.
Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.
Journal of Genetic Counseling
2023
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Ye, Z, Lin, S, Zhao, X, Bennett, MF, Brown, NJ, Wallis, M, Gao, X, Sun, L, Wu, J, Vedururu, R, et al.
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Human Mutation
43(12)
:
1956 -1969
2022
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O'Grady, L, Vergano, SAS, Hoffman, TL, Sarco, D, Cherny, S, Bryant, E, Schultz‐Rogers, L, Chung, WK, Sacharow, S, Immken, LL, et al.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
American Journal of Medical Genetics Part A
188(9)
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2750 -2759
2022
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Cloney, T, Gallacher, L, Pais, LS, Tan, NB, Yeung, A, Stark, Z, Brown, NJ, McGillivray, G, Delatycki, MB, de Silva, MG, et al.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program.
Journal of Medical Genetics
59(8)
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748 -758
2022
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van der Spek, J, den Hoed, J, Snijders Blok, L, Dingemans, AJM, Schijven, D, Nellaker, C, Venselaar, H, Astuti, GDN, Barakat, TS, Bebin, EM, et al.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genetics in Medicine
24(6)
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1283 -1296
2022
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