Dr Tiong Tan

Details

Role Clinical Geneticist

Group Clinical Services

Available for student supervision

Lemire, G, Sanchis-Juan, A, Russell, K, Baxter, S, Chao, KR, Singer-Berk, M, Groopman, E, Wong, I, England, E, Goodrich, J, et al. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.. Am J Hum Genet 111(5) : 863 -876 2024
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Dias, K-R, Shrestha, R, Schofield, D, Evans, C-A, O'Heir, E, Zhu, Y, Zhang, F, Standen, K, Weisburd, B, Stenton, SL, et al. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.. Genet Med 26(5) : 101076 2024
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Chen, Y, Dawes, R, Kim, HC, Stenton, SL, Walker, S, Ljungdahl, A, Lord, J, Ganesh, VS, Ma, J, Martin-Geary, AC, et al. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.. medRxiv 2024
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Szot, JO, Cuny, H, Martin, EM, Sheng, DZ, Iyer, K, Portelli, S, Nguyen, V, Gereis, JM, Alankarage, D, Chitayat, D, et al. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.. J Clin Invest 134(4) : 2024
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Scott, HS, Matotek, E, Mattiske, T, Bryson-Richardson, RJ, Smyth, I, Gecz, J, Christodoulou, J, Palpant, N, Smith, K, Warr, C, et al. How the Australian Functional Genomics Network (AFGN) contributes to improved patient care. Pathology 56: s21 -s22 2024
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