Dr Simon Sadedin
Dr Simon Sadedin
Details
Role
Head of Clinical Bioinformatics
Group
Bioinformatics
Top Publications
- Sadedin, SP, Oshlack, A. Bazam: A rapid method for read extraction and realignment of high throughput sequencing data. 433003 2024 view publication
- 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 2024 view publication
- 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.. J Med Genet 59(8) : 748 -758 2022 view publication
- Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.. Am J Hum Genet 109(4) : 601 -617 2022 view publication
- Sleiman, S, Marshall, AE, Dong, X, Mhanni, A, Alidou-D'Anjou, I, Frosk, P, Marin, SE, Stark, Z, Del Bigio, MR, McBride, A, et al. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.. Hum Mol Genet 31(4) : 614 -624 2022 view publication
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