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Items where Author is "Sharma, Shiwani"

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Number of items: 13.

Article

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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 10.1167/iovs.16-21049.

This list was generated on Thu Apr 9 02:10:51 2020 AEST.
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