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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 Journal Article Discriminating Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and comorbid conditions using metabolomics in UK biobankHuang, Katherine, de Sá, Alex G. C., Thomas, Natalie, Phair, Robert D., Gooley, Paul R., Ascher, David B. and Armstrong, Christopher W. (2024). Discriminating Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and comorbid conditions using metabolomics in UK biobank. Communications Medicine, 4 (1) 248, 1-14. doi: 10.1038/s43856-024-00669-7 |
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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 Journal Article Rifaximin prophylaxis causes resistance to the last-resort antibiotic daptomycinTurner, Adrianna M., Li, Lucy, Monk, Ian R., Lee, Jean Y. H., Ingle, Danielle J., Portelli, Stephanie, Sherry, Norelle L., Isles, Nicole, Seemann, Torsten, Sharkey, Liam K., Walsh, Calum J., Reid, Gavin E., Nie, Shuai, Eijkelkamp, Bart A., Holmes, Natasha E., Collis, Brennan, Vogrin, Sara, Hiergeist, Andreas, Weber, Daniela, Gessner, Andre, Holler, Ernst, Ascher, David B., Duchene, Sebastian, Scott, Nichollas E., Stinear, Timothy P., Kwong, Jason C., Gorrie, Claire L., Howden, Benjamin P. and Carter, Glen P. (2024). Rifaximin prophylaxis causes resistance to the last-resort antibiotic daptomycin. Nature, 635 (8040), 969-977. doi: 10.1038/s41586-024-08095-4 |
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2024 Journal Article AlzDiscovery: A computational tool to identify Alzheimer's disease‐causing missense mutations using protein structure informationPan, Qisheng, Parra, Georgina Becerra, Myung, Yoochan, Portelli, Stephanie, Nguyen, Thanh Binh and Ascher, David B. (2024). AlzDiscovery: A computational tool to identify Alzheimer's disease‐causing missense mutations using protein structure information. Protein Science, 33 (10) e5147, e5147. doi: 10.1002/pro.5147 |
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2024 Journal Article A new method for network bioinformatics identifies novel drug targets for mucinous ovarian carcinomaCraig, Olivia, Lee, Samuel, Pilcher, Courtney, Saoud, Rita, Abdirahman, Suad, Salazar, Carolina, Williams, Nathan, Ascher, David B., Vary, Robert, Luu, Jennii, Cowley, Karla J., Ramm, Susanne, Li, Mark Xiang, Thio, Niko, Li, Jason, Semple, Tim, Simpson, Kaylene J., Gorringe, Kylie L. and Holien, Jessica K. (2024). A new method for network bioinformatics identifies novel drug targets for mucinous ovarian carcinoma. NAR Genomics and Bioinformatics, 6 (3) lqae096, lqae096. doi: 10.1093/nargab/lqae096 |
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2024 Journal Article MTR3D‐AF2: Expanding the coverage of spatially derived missense tolerance scores across the human proteome using AlphaFold2Kovacs, Aaron S., Portelli, Stephanie, Silk, Michael, Rodrigues, Carlos H. M. and Ascher, David B. (2024). MTR3D‐AF2: Expanding the coverage of spatially derived missense tolerance scores across the human proteome using AlphaFold2. Protein Science, 33 (8) e5112, e5112. doi: 10.1002/pro.5112 |
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2024 Journal Article EFG‐CS: Predicting chemical shifts from amino acid sequences with protein structure prediction using machine learning and deep learning modelsGu, Xiaotong, Myung, Yoochan, Rodrigues, Carlos H. M. and Ascher, David B. (2024). EFG‐CS: Predicting chemical shifts from amino acid sequences with protein structure prediction using machine learning and deep learning models. Protein Science, 33 (8) e5096, e5096. doi: 10.1002/pro.5096 |
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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 Journal Article Deep-PK: deep learning for small molecule pharmacokinetic and toxicity predictionMyung, Yoochan, de Sá, Alex G. C. and Ascher, David B. (2024). Deep-PK: deep learning for small molecule pharmacokinetic and toxicity prediction. Nucleic Acids Research, 52 (W1), W469-W475. doi: 10.1093/nar/gkae254 |
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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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2024 Journal Article PRIMITI: a computational approach for accurate prediction of miRNA-target mRNA interactionUthayopas, Korawich, de Sá, Alex G.C., Alavi, Azadeh, Pires, Douglas E.V. and Ascher, David B. (2024). PRIMITI: a computational approach for accurate prediction of miRNA-target mRNA interaction. Computational and Structural Biotechnology Journal, 23, 3030-3039. doi: 10.1016/j.csbj.2024.06.030 |
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2024 Journal Article DDMut-PPI: predicting effects of mutations on protein–protein interactions using graph-based deep learningZhou, Yunzhuo, Myung, YooChan, Rodrigues, Carlos H.M. and Ascher, David B. (2024). DDMut-PPI: predicting effects of mutations on protein–protein interactions using graph-based deep learning. Nucleic Acids Research, 52 (W1), W207-W214. doi: 10.1093/nar/gkae412 |
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2024 Journal Article Targeting the Plasmodium falciparum UCHL3 ubiquitin hydrolase using chemically constrained peptidesKing, Harry R., Bycroft, Mark, Nguyen, Thanh-Binh, Kelly, Geoff, Vinogradov, Alexander A., Rowling, Pamela J E, Stott, Katherine, Ascher, David B., Suga, Hiroaki, Itzhaki, Laura S. and Artavanis-Tsakonas, Katerina (2024). Targeting the Plasmodium falciparum UCHL3 ubiquitin hydrolase using chemically constrained peptides. Proceedings of the National Academy of Sciences of the United States of America, 121 (21) e2322923121, e2322923121. doi: 10.1073/pnas.2322923121 |
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2024 Journal Article Engineering G protein‐coupled receptors for stabilizationVelloso, João Paulo L., de Sá, Alex G. C., Pires, Douglas E. V. and Ascher, David B. (2024). Engineering G protein‐coupled receptors for stabilization. Protein Science, 33 (6) e5000, 1-13. doi: 10.1002/pro.5000 |
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2024 Journal Article Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantificationRyu, Jayoung, Barkal, Sam, Yu, Tian, Jankowiak, Martin, Zhou, Yunzhuo, Francoeur, Matthew, Phan, Quang Vinh, Li, Zhijian, Tognon, Manuel, Brown, Lara, Love, Michael I., Bhat, Vineel, Lettre, Guillaume, Ascher, David B., Cassa, Christopher A., Sherwood, Richard I. and Pinello, Luca (2024). Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification. Nature Genetics, 56 (5), 925-937. doi: 10.1038/s41588-024-01726-6 |
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2024 Journal Article Mutations in glycosyltransferases and glycosidases: implications for associated diseasesGu, Xiaotong, Kovacs, Aaron S., Myung, Yoochan and Ascher, David B. (2024). Mutations in glycosyltransferases and glycosidases: implications for associated diseases. Biomolecules, 14 (4) 497, 497. doi: 10.3390/biom14040497 |
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2024 Journal Article Are manufacturing patents to blame for biosimilar market launch delays?Williamson, Rhys, Munro, Trent, Ascher, David, Robertson, Avril and Pregelj, Lisette (2024). Are manufacturing patents to blame for biosimilar market launch delays?. Value in Health, 27 (3), 287-293. doi: 10.1016/j.jval.2023.12.005 |
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2024 Journal Article A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorderSzot, Justin O., Cuny, Hartmut, Martin, Ella M.M.A., Sheng, Delicia Z., Iyer, Kavitha, Portelli, Stephanie, Nguyen, Vivien, Gereis, Jessica M., Alankarage, Dimuthu, Chitayat, David, Chong, Karen, Wentzensen, Ingrid M., Vincent-Delormé, Catherine, Lermine, Alban, Burkitt-Wright, Emma, Ji, Weizhen, Jeffries, Lauren, Pais, Lynn S., Tan, Tiong Y., Pitt, James, Wise, Cheryl A., Wright, Helen, Andrews, Israel D., Pruniski, Brianna, Grebe, Theresa A., Corsten-Janssen, Nicole, Bouman, Katelijne, Poulton, Cathryn, Prakash, Supraja ... Dunwoodie, Sally L. (2024). A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal of Clinical Investigation, 134 (4) 174824. doi: 10.1172/jci174824 |
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2024 Journal Article AI-driven GPCR analysis, engineering, and targetingVelloso, João P.L., Kovacs, Aaron S., Pires, Douglas E.V. and Ascher, David B. (2024). AI-driven GPCR analysis, engineering, and targeting. Current Opinion in Pharmacology, 74 102427, 102427. doi: 10.1016/j.coph.2023.102427 |
