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2024 Conference Publication Identification and functional characterisation of ACTN1 variants in individuals with a distinct clinical subtype of frontonasal dysplasia without platelet disorderTan, Tiong Yang, Houweling, Peter, Huang, Shengping, Nguyen, Thanh-Binh, Yap, Patrick, van Dooren, Marieke, Mathijssen, Irene, Delatycki, Martin, Clucas, Luisa, North, Kathryn, Ascher, David, Bell, Katrina and Cox, Timothy C. (2024). Identification and functional characterisation of ACTN1 variants in individuals with a distinct clinical subtype of frontonasal dysplasia without platelet disorder. 57th European Society of Human Genetics (ESHG) Conference, Berlin, Germany, 1-4 June 2024. London, United Kingdom: Nature Publishing Group. |
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2024 Conference Publication Delineating the phenotypic spectrum of NSF-related disordersArkush, L., Coleman, J., Nguyen, T. B., Mulhern, S., Scott, D. Armstrong, Kaliakatsos, M., Lofquist, S., Lieffering, N., Ascher, D., Ben Zeev, B., Hildebrand, M., Scheffer, I. E., Sadleir, L., Gordon, S., Stephenson, S. E., McTague, A. and Howell, K. B. (2024). Delineating the phenotypic spectrum of NSF-related disorders. 15th European Epilepsy Congress, Rome, Italy, 7-11 September 2024. Hoboken, NJ, United States: Wiley-Blackwell Publishing. doi: 10.1111/epi.18151 |
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2024 Conference Publication Towards evolutionary-based automated machine learning for small molecule pharmacokinetic predictionde Sá, Alex G. C. and Ascher, David B. (2024). Towards evolutionary-based automated machine learning for small molecule pharmacokinetic prediction. GECCO '24 Companion, Melbourne, VIC, Australia, 14-18 July 2024. New York, NY, United States: ACM. doi: 10.1145/3638530.3664166 |
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2024 Conference Publication Accelerating GPCR discovery through AI and big dataLinhares Velloso, J. P., de Sa, A. G. C., Pires, D. E. V. and Ascher, D. B. (2024). Accelerating GPCR discovery through AI and big data. Mining biochemistry for human health and well‐being, 48th FEBS Congress, Milan, Italy, 29 June-3 July 2024. Oxford, United Kingdom: John Wiley & Sons. doi: 10.1002/2211-5463.13837 |
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2016 Conference Publication Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHDAndrews, Katrina A., Vialard, Lindsey, Ascher, David B., Pires, Douglas E. V., Bradshaw, Nicola, Cole, Trevor, Cook, Jackie, Irving, Richard, Kumar, Ajith, Lalloo, Fiona, Izatt, Louise, Goudie, David, Woodward, Emma R. and Maher, Eamonn R. (2016). Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD. Spring Meeting for Clinician Scientists in Training 2016, United Kingdom, 2016. London, United Kingdom: The Lancet Publishing Group. doi: 10.1016/s0140-6736(16)00406-2 |
