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Abbatt, JPD, Leaitch, WR, Aliabadi, AA, Bertram, AK, Blanchet, J-P, Boivin-Rioux, A, Bozem, H, Burkart, J, Chang, RYW, Charette, J, Chaubey, JP, Christensen, RJ, Cirisan, A, Collins, DB, Croft, B, Dionne, J, Evans, GJ, Fletcher, CG, Gali, M, Ghahremaninezhad, R, Girard, E, Gong, W, Gosselin, M, Gourdal, M, Hanna, SJ, Hayashida, H ORCID: 0000-0002-6349-4947, Herber, AB, Hesaraki, S, Hoor, P, Huang, L, Hussherr, R, Irish, VE, Keita, SA, Kodros, JK, Kollner, F, Kolonjari, F, Kunkel, D, Ladino, LA, Law, K, Levasseur, M, Libois, Q, Liggio, J, Lizotte, M, Macdonald, KM, Mahmood, R, Martin, RV, Mason, RH, Miller, LA, Moravek, A, Mortenson, E, Mungall, EL, Murphy, JG, Namazi, M, Norman, A-L, O'Neill, NT, Pierce, JR, Russell, LM, Schneider, J, Schulz, H, Sharma, S, Si, M, Staebler, RM, Steiner, NS, Thomas, JL, von Salzen, K, Wentzell, JJB, Willis, MD, Wentworth, GR, Xu, J-W and Yakobi-Hancock, JD 2019 , 'Overview paper: new insights into aerosol and climate in the Arctic' , Atmospheric Chemistry and Physics, vol. 19 , 2527–2560 , doi: https://doi.org/10.5194/acp-19-2527-2019.

Abbatt, JPD, Leaitch, WR, Aliabadi, AA, Bertram, AK, Blanchet, J-P, Boivin-Rioux, A, Bozem, H, Burkart, J, Chang, RYW, Charette, J, Chaubey, JP, Christensen, RJ, Cirisan, A, Collins, DB, Croft, B, Dionne, J, Evans, GJ, Fletcher, CG, Gali, M, Ghahremaninezhad, R, Girard, E, Gong, W, Gosselin, M, Gourdal, M, Hanna, SJ, Hayashida, H ORCID: 0000-0002-6349-4947, Herber, AB, Hesaraki, S, Hoor, P, Huang, L, Hussherr, R, Irish, VE, Keita, SA, Kodros, JK, Kollner, F, Kolonjari, F, Kunkel, D, Ladino, LA, Law, K, Levasseur, M, Libois, Q, Liggio, J, Lizotte, M, Macdonald, KM, Mahmood, R, Martin, RV, Mason, RH, Miller, LA, Moravek, A, Mortenson, E, Mungall, EL, Murphy, JG, Namazi, M, Norman, A-L, O'Neill, NT, Pierce, JR, Russell, LM, Schneider, J, Schulz, H, Sharma, S, Si, M, Staebler, RM, Steiner, NS, Thomas, JL, von Salzen, K, Wentzell, JJB, Willis, MD, Wentworth, GR, Xu, J-W and Yakobi-Hancock, JD 2019 , 'Overview paper: new insights into aerosol and climate in the Arctic' , Atmospheric Chemistry and Physics, vol. 19 , 2527–2560 , doi: https://doi.org/10.5194/acp-19-2527-2019.

Alfaro, AC, Nguyen, TV, Venter, L, Ericson, JA, Sharma, S, Ragg, NLC and Mundy, C ORCID: 0000-0002-1945-3750 2021 , 'The effects of live transport on metabolism and stress responses of abalone (Haliotis iris)' , Metabolites, vol. 11, no. 11 , pp. 1-15 , doi: https://doi.org/10.3390/metabo11110748.

Burdon, KP, Sharma, S, Chen, CS, Dimasi, DP, Mackey, DA and Craig, JE 2007 , 'A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site' , Nature, vol. 28, no. 7 , p. 742 .

Burdon, KP ORCID: 0000-0001-8217-1249, Awadalla, MS, Mitchell, P, Wang, JJ, White, A, Keane, MC, Souzeau, E, Graham, SL, Goldberg, I, Healey, PR, Landers, J, Mills, RAD, Best, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Sharma, S and Craig, JE 2018 , 'DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma' , Ophthalmic Genetics, vol. 39, no. 2 , pp. 221-227 , doi: https://doi.org/10.1080/13816810.2017.1413659.

Dave, A, Craig, JE, Alamein, M, Skrzypiec, K, Beltz, J, Pfaff, A, Burdon, KP ORCID: 0000-0001-8217-1249, Ercal, N, de Iongh, RU and Sharma, S 2021 , 'Genotype, age, genetic background, and sex influence Epha2-related cataract development in mice' , Investigative Ophthalmology and Visual Science, vol. 62, no. 12 , pp. 1-16 , doi: https://doi.org/10.1167/iovs.62.12.3.

Dave, A, Craig, JE, Skrzypiec, K, Quinn, S, Barnes, M, Di Girolamo, N, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249, de Iongh, RU and Sharma, S 2019 , 'Epha2 genotype influences ultraviolet radiation induced cataract in mice' , Experimental Eye Research, vol. 188 , pp. 1-10 , doi: https://doi.org/10.1016/j.exer.2019.107806.

Dave, A, Craig, JE, Skrzypiec, K, Quinn, S, Barnes, M, Di Girolamo, N, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249, de Iongh, RU and Sharma, S 2019 , 'Epha2 genotype influences ultraviolet radiation induced cataract in mice' , Experimental Eye Research, vol. 188 , pp. 1-10 , doi: https://doi.org/10.1016/j.exer.2019.107806.

Javadiyan, S, Craig, JE, Sharma, S, Lower, KM, Casey, T, Haan, E, Souzeau, E and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)' , BMC Medical Genetics, vol. 18, no. 1 , pp. 1-6 , doi: https://doi.org/10.1186/s12881-017-0414-7.

Javadiyan, S, Craig, JE, Souzeau, E, Sharma, S, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia' , G3: Genes, Genomes, Genetics, vol. 7, no. 10 , pp. 3257-3268 , doi: https://doi.org/10.1534/g3.117.300109.

Kuot, A, Corbett, MA, Mills, RA, Snibson, G, Wiffen, S, Loh, R, Burdon, KP ORCID: 0000-0001-8217-1249, Craig, JE and Sharma, S 2021 , 'Differential gene expression analysis of corneal endothelium indicates involvement of phagocytic activity in Fuchs’ endothelial corneal dystrophy' , Experimental Eye Research, vol. 210 , pp. 1-10 , doi: https://doi.org/10.1016/j.exer.2021.108692.

Kuot, A, Hewitt, AW ORCID: 0000-0002-5123-5999, Snibson, GR, Souzeau, E, Mills, R, Craig, JE, Burdon, KP ORCID: 0000-0001-8217-1249 and Sharma, S 2017 , 'TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases' , PLoS One, vol. 12, no. 8 , pp. 1-13 , doi: https://doi.org/10.1371/journal.pone.0183719.

Kuot, A, Ronci, M, Mills, R, Klebe, S, Snibson, G, Wiffen, S, Loh, R, Corbett, M, Zhou, T, Chataway, T, Burdon, KP ORCID: 0000-0001-8217-1249, Craig, JE, Urbani, A and Sharma, S 2019 , 'Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy' , Clinical and Experimental Ophthalmology, vol. 47, no. 8 , pp. 1028-1042 , doi: https://doi.org/10.1111/ceo.13569.

MacGregor, S, Ong, J-S, An, J, Han, X, Zhou, T, Siggs, OM, Law, MH, Souzeau, E, Sharma, S, Lynn, DJ, Beesley, J, Sheldrick, B, Mills, RA, Landers, J, Ruddle, JB, Graham, SL, Healey, PR, White, AJR, Casson, RJ, Best, S, Grigg, JR, Goldberg, I, Powell, JE, Whiteman, DC, Radford-Smith, GL, Martin, NG, Montgomery, GW, Burdon, KP ORCID: 0000-0001-8217-1249, Mackey, DA, Gharahkhani, P, Craig, JE and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma' , Nature Genetics, vol. 50, no. 8 , pp. 1067-1071 , doi: https://doi.org/10.1038/s41588-018-0176-y.

Siggs, OM, Javadiyan, S, Sharma, S, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract' , European Journal of Human Genetics, vol. 25, no. 6 , pp. 711-718 , doi: https://doi.org/10.1038/ejhg.2017.33.

Zhou, T, Souzeau, E, Siggs, OM, Landers, J, Mills, R, Goldberg, I, Healey, PR, Graham, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Galanopoulos, A, Casson, RJ, Ruddle, JB, Ellis, J, Leo, P, Brown, MA, MacGregor, S, Sharma, S, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma' , Investigative Ophthalmology and Visual Science, vol. 58, no. 3 , pp. 1537-1544 , doi: https://doi.org/10.1167/iovs.16-21049.

Thesis

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