Dr Tom Conway
Dr Tom Conway
Top Publications
- Gonzalez, CAD, Bell, KM, Rajagopalan, R, de Silva, MG, Lemes, A, Zabala, C, Pérez, F, Cerisola, A, Vossough, A, Whitehead, MT, et al. A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease. 2026 view publication
- Dominguez Gonzalez, CA, Bell, KM, Rajagopalan, R, de Silva, MG, Lemes, A, Zabala, C, Pérez-Vidarte, F, Cerisola, A, Vossough, A, Whitehead, MT, et al. Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.. Neurol Genet 11(5) : e200291 2025 view publication
- Lunke, S, Bouffler, SE, Patel, CV, Sandaradura, SA, Wilson, M, Pinner, J, Hunter, MF, Barnett, CP, Wallis, M, Kamien, B, et al. Integrated multi-omics for rapid rare disease diagnosis on a national scale.. Nat Med 29(7) : 1681 -1691 2023 view publication
- Doig, KD, Love, CG, Conway, T, Seleznev, A, Ma, D, Fellowes, A, Blombery, P, Fox, SB. Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.. BMC Med Genomics 15(1) : 70 2022 view publication
- Trigos, AS, Goudey, BW, Bedő, J, Conway, TC, Faux, NG, Wyres, KL. Collateral Sensitivity to β-Lactam Drugs in Drug-Resistant Tuberculosis Is Driven by the Transcriptional Wiring of BlaI Operon Genes.. mSphere 6(3) : e0024521 2021 view publication
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