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Items where Author is "Sharma, Shiwani"
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Number of items: 13.
Afshari, NA, Igo Jr, RP, Morris, NJ, Stambolian, D, Sharma, Shiwani, Pulagam, VL, Dunn, S, Stamler, JF, Truitt, BJ, Rimmler, J, Kuot, A, Croasdale, CR, Qin, X, Burdon, KP ORCID: 0000-0001-8217-1249, Riazuddin, SA, Mills, R, Klebe, S, Minear, MA, Zhao, J, Balajonda, E, Rosenwasser, GO, Baratz, KH, Mootha, VV, Patel, SV, Gregory, SG, Bailey-Wilson, JE, Price, MO, Price, FW, Craig, JE, Fingert, JH, Gottsch, JD, Aldave, AJ, Klintworth, GK, Lass, JH, Li, YJ and Iyengar, SK 2017
, 'Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy'
, Nature Communications, vol. 8
, pp. 1-8
, doi: https://doi.org/10.1038/ncomms14898.
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, Shiwani 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.
Gharahkhani, P, Burdon, KP ORCID: 0000-0001-8217-1249, Cooke Bailey, JN, Hewitt, AW ORCID: 0000-0002-5123-5999, Law, MH, Pasquale, LR, Kang, JH, Haines, JL, Souzeau, E, Zhou, T, Siggs, OM, Landers, J, Awadalla, M, Sharma, Shiwani, Mills, RA, Ridge, B, Lynn, D, Casson, R, Graham, SL, Goldberg, I, White, A, Healey, PR, Grigg, J, Lawlor, M, Mitchell, P, Ruddle, J, Coote, M, Walland, M, Best, S, Vincent, A, Gale, J, RadfordSmith, G, Whiteman, DC, Montgomery, GW, Martin, NG, Mackey, DA, Wiggs, JL, MacGregor, S and Craig, JE 2018
, 'Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma'
, Scientific Reports, vol. 8, no. 1
, pp. 1-12
, doi: https://doi.org/10.1038/s41598-018-20435-9.
Hewitt, AW, Sharma, Shiwani, Burdon, KP, Wang, JJ, Baird, PN, Dimasi, DP, Mackey, DA, Mitchell, P and Craig, JE 2007
, 'Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people'
, Human Molecular Genetics, vol. 17, no. 5
, pp. 710-716
, doi: https://doi.org/10.1093/hmg/ddm342.
Javadiyan, S, Craig, JE, Sharma, Shiwani, 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, Shiwani, 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.
Javadiyan, S, Lucas, SEM ORCID: 0000-0003-0104-5406, Wangmo, D, Ngy, M, Edussuriya, K, Craig, JE, Rudkin, A, Casson, R, Selva, D, Sharma, Shiwani, Lower, KM, Meucke, J and Burdon, KP ORCID: 0000-0001-8217-1249 2018
, 'Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka'
, Molecular Genetics & Genomic Medicine
, pp. 1-10
, doi: https://doi.org/10.1002/mgg3.406.
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, Shiwani 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, Shiwani 2019
, 'Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy'
, Clinical and Experimental Ophthalmology
, pp. 1-15
, 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, Shiwani, 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, Shiwani, 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, Sharma, Shiwani, 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, Lynn, DJ, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017
, 'Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma'
, PLoS ONE, vol. 12, no. 3
, pp. 1-18
, doi: https://doi.org/10.1371/journal.pone.0172427.
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, Shiwani, 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.
This list was generated on Thu Jun 1 02:23:33 2023 AEST.