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2025 Journal Article Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes including short stature, scoliosis, and skeletal dysplasiaTise, Christina G., Ashton, Katie, de Hayr, Lachlan, Lee, Kun-Di, Patkar, Omkar L., Krzesinski, Emma, Bassetti, Jennifer A., Carter, Erin M., Raggio, Cathleen, Zankl, Andreas, Khanshour, Anas M., Atala, Kristhen N., Rios, Jonathan J., Wise, Carol A., Zhu, Ying, Zhang, Futao, Roscioli, Tony, Buckley, Michael, Harvey, Robert J. and Dawson, Paul A. (2025). Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes including short stature, scoliosis, and skeletal dysplasia. Genetics in Medicine Open, 3 101958, 101958. doi: 10.1016/j.gimo.2024.101958 |
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2024 Journal Article Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityDe Hayr, Lachlan, Blok, Laura E.R., Dias, Kerith-Rae, Long, Jingyi, Begemann, Anaïs, Moir, Robyn D., Willis, Ian M., Mocera, Martina, Siegel, Gabriele, Steindl, Katharina, Evans, Carey-Anne, Zhu, Ying, Zhang, Futao, Field, Michael, Ma, Alan, Adès, Lesley, Josephi-Taylor, Sarah, Pfundt, Rolph, Zaki, Maha S., Tomoum, Hoda, Gregor, Anne, Laube, Julia, Reis, André, Maddirevula, Sateesh, Hashem, Mais O., Zweier, Markus, Alkuraya, Fowzan S., Maroofian, Reza, Buckley, Michael F. ... Harvey, Robert J. (2024). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. Genetics in Medicine, 27 (1) 101253. doi: 10.1016/j.gim.2024.101253 |
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2024 Journal Article The flavivirus Non-Structural Protein 5 (NS5): structure, functions, and targeting for development of vaccines and therapeuticsGoh, Jarvis Z. H., De Hayr, Lachlan, Khromykh, Alexander A. and Slonchak, Andrii (2024). The flavivirus Non-Structural Protein 5 (NS5): structure, functions, and targeting for development of vaccines and therapeutics. Vaccines, 12 (8) 865, 865. doi: 10.3390/vaccines12080865 |
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2023 Journal Article Pharmacokinetic and pharmacodynamic considerations for treating sarcoptic mange with cross-relevance to Australian wildlifeTakano, Kotaro, de Hayr, Lachlan, Carver, Scott, Harvey, Robert J. and Mounsey, Kate E. (2023). Pharmacokinetic and pharmacodynamic considerations for treating sarcoptic mange with cross-relevance to Australian wildlife. International Journal for Parasitology: Drugs and Drug Resistance, 21, 97-113. doi: 10.1016/j.ijpddr.2023.02.004 |
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2022 Journal Article De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsDias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E. R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio ... Roscioli, Tony (2022). De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine, 24 (9), 1952-1966. doi: 10.1016/j.gim.2022.06.001 |
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2022 Journal Article Loss, gain and altered function of GlyR α2 subunit mutations in neurodevelopmental disordersChen, Xiumin, Wilson, Katie A., Schaefer, Natascha, De Hayr, Lachlan, Windsor, Mark, Scalais, Emmanuel, van Rijckevorsel, Germaine, Stouffs, Katrien, Villmann, Carmen, O’Mara, Megan L., Lynch, Joseph W. and Harvey, Robert J. (2022). Loss, gain and altered function of GlyR α2 subunit mutations in neurodevelopmental disorders. Frontiers in Molecular Neuroscience, 15 886729. doi: 10.3389/fnmol.2022.886729 |
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2020 Other Outputs Investigating the role of non-coding RNAs in Aedes aegypti biologyDe Hayr, Lachlan (2020). Investigating the role of non-coding RNAs in Aedes aegypti biology. PhD Thesis, School of Biological Sciences , The University of Queensland. doi: 10.14264/uql.2020.702 |
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2020 Journal Article RNA activation in insects: the targeted activation of endogenous and exogenous genesDe Hayr, Lachlan, Asad, Sultan, Hussain, Mazhar and Asgari, Sassan (2020). RNA activation in insects: the targeted activation of endogenous and exogenous genes. Insect Biochemistry and Molecular Biology, 119 103325, 103325. doi: 10.1016/j.ibmb.2020.103325 |
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2019 Journal Article Density-dependent enhanced replication of a densovirus in Wolbachia-infected Aedes cells is associated with production of piRNAs and higher virus-derived siRNAsParry, Rhys, Bishop, Cameron, De Hayr, Lachlan and Asgari, Sassan (2019). Density-dependent enhanced replication of a densovirus in Wolbachia-infected Aedes cells is associated with production of piRNAs and higher virus-derived siRNAs. Virology, 528, 89-100. doi: 10.1016/j.virol.2018.12.006 |
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2018 Other Outputs Density dependent enhancement effect of Wolbachia and the host RNAi response to a densovirus in Aedes cellsParry, Rhys, Bishop, Cameron, de Hayr, Lachlan and Asgari, Sassan (2018). Density dependent enhancement effect of Wolbachia and the host RNAi response to a densovirus in Aedes cells. doi: 10.1101/441584 |
