S
Shiwani Sharma
Researcher at Flinders University
Publications - 60
Citations - 2820
Shiwani Sharma is an academic researcher from Flinders University. The author has contributed to research in topics: Genome-wide association study & Single-nucleotide polymorphism. The author has an hindex of 27, co-authored 60 publications receiving 2483 citations. Previous affiliations of Shiwani Sharma include Flinders Medical Centre.
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Journal ArticleDOI
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Kathryn P. Burdon,Stuart MacGregor,Alex W. Hewitt,Alex W. Hewitt,Shiwani Sharma,Glyn Chidlow,Richard A. Mills,Patrick Danoy,Robert J Casson,Ananth C. Viswanathan,Jimmy Z. Liu,John Landers,Anjali K. Henders,John P. M. Wood,Emmanuelle Souzeau,April Crawford,Paul Leo,Jie Jin Wang,Jie Jin Wang,Elena Rochtchina,Dale R. Nyholt,Nicholas G. Martin,Grant W. Montgomery,Paul Mitchell,Matthew A. Brown,David A. Mackey,David A. Mackey,David A. Mackey,Jamie E Craig +28 more
TL;DR: The genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss and 3,956 controls shows retinal expression of genes at both loci at TMCO1 and CDKN2B-AS1 in human ocular tissues.
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Kathryn P. Burdon,Stuart MacGregor,Alex W. Hewitt,Shiwani Sharma,Glyn Chidlow,Richard A. Mills,Patrick Danoy,Robert J Casson,Ananth C. Viswanathan,Jimmy Z. Liu,John Landers,Anjali K. Henders,John P. M. Wood,Emmanuelle Souzeau,April Crawford,Paul Leo,Jie Jin Wang,Elena Rochtchina,Dale R. Nyholt,Nicholas G. Martin,Grant W. Montgomery,Paul Mitchell,Brown,David A. Mackey,Jamie E Craig +24 more
TL;DR: This paper reported a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls.
Journal ArticleDOI
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Puya Gharahkhani,Kathryn P. Burdon,Kathryn P. Burdon,Rhys Fogarty,Shiwani Sharma,Alex W. Hewitt,Sarah Martin,Matthew Law,Katie Cremin,Jessica N. Cooke Bailey,Jessica N. Cooke Bailey,Stephanie Loomis,Louis R. Pasquale,Jonathan L. Haines,Jonathan L. Haines,Michael A. Hauser,Ananth C. Viswanathan,Peter McGuffin,Fotis Topouzis,Paul J. Foster,Stuart L. Graham,Robert J Casson,Mark Chehade,Andrew White,Tiger Zhou,Emmanuelle Souzeau,John Landers,Jude Fitzgerald,Sonja Klebe,Jonathan B Ruddle,Ivan Goldberg,Paul R. Healey,Richard A. Mills,Jie Jin Wang,Grant W. Montgomery,Nicholas G. Martin,Graham L. Radford-Smith,Graham L. Radford-Smith,David C. Whiteman,Matthew A. Brown,Janey L. Wiggs,David A. Mackey,David A. Mackey,Paul Mitchell,Stuart MacGregor,Jamie E Craig +45 more
TL;DR: This paper investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts and two US replication cohorts (2,616 cases and 2,634 controls total) and Meta-analysis of all cohorts identified three loci newly associated with development of primary open-angle glaucoma.
Journal ArticleDOI
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.
Alex W. Hewitt,Alex W. Hewitt,Shiwani Sharma,Kathryn P. Burdon,Jie Jin Wang,Paul N. Baird,David P. Dimasi,David A. Mackey,David A. Mackey,Paul Mitchell,Jamie E Craig +10 more
TL;DR: Caucasian population has a 9-fold lower lifetime incidence of pseudoexfoliation syndrome compared with Nordic populations despite having similar allelic architecture at the LOXL1 locus, which strongly suggests that as yet unidentified genetic or environmental factors independent of LO XL1 strongly influence the phenotypic expression of the syndrome.
Journal ArticleDOI
Genome-wide Association Study of Intraocular Pressure Uncovers New Pathways to Glaucoma
Stuart MacGregor,Jue-Sheng Ong,Jiyuan An,Xikun Han,Tiger Zhou,Owen M. Siggs,Matthew Law,Emmanuelle Souzeau,Shiwani Sharma,David J. Lynn,David J. Lynn,Jonathan Beesley,Bronwyn Sheldrick,Richard A. Mills,John Landers,Jonathan B Ruddle,Stuart L. Graham,Paul R. Healey,Andrew White,Robert J Casson,Stephen Best,John R. Grigg,Ivan Goldberg,Joseph E. Powell,Joseph E. Powell,David C. Whiteman,Graham L. Radford-Smith,Graham L. Radford-Smith,Nicholas G. Martin,Grant W. Montgomery,Kathryn P. Burdon,Kathryn P. Burdon,David A. Mackey,David A. Mackey,Puya Gharahkhani,Jamie E Craig,Alex W. Hewitt,Alex W. Hewitt +37 more
TL;DR: A combined analysis of participants from the UK Biobank and the International Glaucoma Genetic Consortium identifies 85 new loci for intraocular pressure (IOP), and pathway analysis uncovers new pathways associated with both IOP and glAUcoma.