Dr Sam Bryen
Dr Sam Bryen
Top Publications
- Butters, A, Thomson, K, Harrington, F, Henden, N, McGuire, K, Byrne, AB, Bryen, S, McGurk, KA, Leask, M, Ackerman, MJ, et al. A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets. 2026 view publication
- Grosz, BR, Parmar, JM, Ellis, M, Bryen, S, Simons, C, Reis, ALM, Stevanovski, I, Deveson, IW, Nicholson, G, Laing, N, et al. A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. 2026 view publication
- Nava, C, Cogne, B, Santini, A, Leitão, E, Lecoquierre, F, Chen, Y, Stenton, SL, Besnard, T, Heide, S, Baer, S, et al. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. 2026 view publication
- Twede, H, Pais, L, Bryen, S, O’Heir, E, Smith, G, Paulsen, R, Austin-Tse, CA, Bloemendal, A, Simons, C, Hall, AK, et al. The Evidence Aggregator: AI reasoning applied to rare disease diagnostics. 2026 view publication
- Cuomo, ASE, Spenceley, E, Tanudisastro, HA, Bowen, B, Henry, A, Huang, HL, Xue, A, Zhou, W, Welland, MJ, Bryen, SJ, et al. Impact of rare and common genetic variation on cell type-specific gene expression in human blood. 2026 view publication
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