photo of Dr Simon Sadedin

Dr Simon Sadedin

Dr Simon Sadedin

Details

Role Head of Clinical Bioinformatics
Group Bioinformatics

Top Publications

  • Rius, R, Van Bergen, NJ, Compton, AG, Riley, LG, Kava, MP, Balasubramaniam, S, Amor, DJ, Fanjul-Fernandez, M, Cowley, MJ, Fahey, MC, et al. Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Journal of Clinical Medicine 8(11) : 2020 2023
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  • Sadedin, SP, Oshlack, A. Bazam: A rapid method for read extraction and realignment of high throughput sequencing data. 433003 2023
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  • Jolly, LA, Parnell, E, Gardner, AE, Corbett, MA, Pérez-Jurado, LA, Shaw, M, Lesca, G, Keegan, C, Schneider, MC, Griffin, E, et al. Missense variant contribution to USP9X-female syndrome. npj Genomic Medicine 5(1) : 53 2023
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  • Dashnow, H, Lek, M, Phipson, B, Halman, A, Sadedin, S, Lonsdale, A, Davis, M, Lamont, P, Clayton, JS, Laing, NG, et al. STRetch: detecting and discovering pathogenic short tandem repeat expansions. 159228 2023
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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) : 748 -758 2022
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