The status of intercellular junctions in established lens epithelial cell lines

Por Dave, Alpana, Craig, Jamie E., Sharma, Shiwani
Publicado em 2012

Aetiologies of Acute Undifferentiated Febrile illness in Adult Patients – an Experience from a Tertiary Care Hospital in Northern India

Por Mittal, Garima, Ahmad, Sohaib, Agarwal, R K, Dhar, Minakshi, Mittal, Manish, Sharma, Shiwani
Publicado no J Clin Diagn Res (2015)

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS

Por Dave, Alpana, Martin, Sarah, Kumar, Raman, Craig, Jamie E., Burdon, Kathryn P., Sharma, Shiwani
Publicado no Mol Vis (2016)

Detecting Protein Aggregates on Untreated Human Tissue Samples by Atomic Force Microscopy Recognition Imaging

Por Creasey, Rhiannon, Sharma, Shiwani, Craig, Jamie E., Gibson, Christopher T., Ebner, Andreas, Hinterdorfer, Peter, Voelcker, Nicolas H.
Publicado em 2010

Ocular Expression and Distribution of Products of the POAG-Associated Chromosome 9p21 Gene Region

Por Chidlow, Glyn, Wood, John P. M., Sharma, Shiwani, Dimasi, David P., Burdon, Kathryn P., Casson, Robert J., Craig, Jamie E.
Publicado em 2013

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process

Por Kuot, Abraham, Hewitt, Alex W, Griggs, Kim, Klebe, Sonja, Mills, Richard, Jhanji, Vishal, Craig, Jamie E, Sharma, Shiwani, Burdon, Kathryn P
Publicado em 2012

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract

Por Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Pater, John, Casey, Theresa, Hodson, Trevor, Burdon, Kathryn P.
Publicado no BMC Res Notes (2016)

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome

Por Burdon, Kathryn P., Sharma, Shiwani, Hewitt, Alex W., McMellon, Amy E., Wang, Jie Jin, Mackey, David A., Mitchell, Paul, Craig, Jamie E.
Publicado em 2008

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

Por Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.
Publicado em 2008

Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia

Por Dave, Alpana, Laurie, Kate, Staffieri, Sandra E., Taranath, Deepa, Mackey, David A., Mitchell, Paul, Wang, Jie Jin, Craig, Jamie E., Burdon, Kathryn P., Sharma, Shiwani
Publicado em 2013

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy

Por Van Bergen, Nicole J, Crowston, Jonathan G., Craig, Jamie E., Burdon, Kathryn P., Kearns, Lisa S., Sharma, Shiwani, Hewitt, Alex W., Mackey, David A., Trounce, Ian A.
Publicado no PLoS One (2015)

Rapid inexpensive genome-wide association using pooled whole blood

Por Craig, Jamie E., Hewitt, Alex W., McMellon, Amy E., Henders, Anjali K., Ma, Lingjun, Wallace, Leanne, Sharma, Shiwani, Burdon, Kathryn P., Visscher, Peter M., Montgomery, Grant W., MacGregor, Stuart
Publicado em 2009

Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma

Por Zhou, Tiger, Souzeau, Emmanuelle, Sharma, Shiwani, Siggs, Owen M., Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Casson, Robert J., Landers, John, Mills, Richard, Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Burdon, Kathryn P., Craig, Jamie E.
Publicado no Mol Genet Genomic Med (2016)

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

Por Zhou, Tiger, Souzeau, Emmanuelle, Sharma, Shiwani, Landers, John, Mills, Richard, Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Galanopoulos, Anna, Casson, Robert J., Ruddle, Jonathan B., Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Lynn, David J., Burdon, Kathryn P., Craig, Jamie E.
Publicado no PLoS One (2017)

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Por Burdon, Kathryn P., McKay, James D., Sale, Michèle M., Russell-Eggitt, Isabelle M., Mackey, David A., Wirth, M. Gabriela, Elder, James E., Nicoll, Alan, Clarke, Michael P., FitzGerald, Liesel M., Stankovich, James M., Shaw, Marie A., Sharma, Shiwani, Gajovic, Srecko, Gruss, Peter, Ross, Shelley, Thomas, Paul, Voss, Anne K., Thomas, Tim, Gécz, Jozef, Craig, Jamie E.
Publicado em 2003

Association of Polymorphisms in the Hepatocyte Growth Factor Gene Promoter with Keratoconus

Por Burdon, Kathryn P., Macgregor, Stuart, Bykhovskaya, Yelena, Javadiyan, Sharhbanou, Li, Xiaohui, Laurie, Kate J., Muszynska, Dorota, Lindsay, Richard, Lechner, Judith, Haritunians, Talin, Henders, Anjali K., Dash, Durga, Siscovick, David, Anand, Seema, Aldave, Anthony, Coster, Douglas J., Szczotka-Flynn, Loretta, Mills, Richard A., Iyengar, Sudha K., Taylor, Kent D., Phillips, Tony, Montgomery, Grant W., Rotter, Jerome I., Hewitt, Alex W., Sharma, Shiwani, Rabinowitz, Yaron S., Willoughby, Colin, Craig, Jamie E.
Publicado em 2011

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

Por Afshari, Natalie A., Igo, Robert P., Morris, Nathan J., Stambolian, Dwight, Sharma, Shiwani, Pulagam, V. Lakshmi, Dunn, Steven, Stamler, John F., Truitt, Barbara J., Rimmler, Jacqueline, Kuot, Abraham, Croasdale, Christopher R., Qin, Xuejun, Burdon, Kathryn P., Riazuddin, S. Amer, Mills, Richard, Klebe, Sonja, Minear, Mollie A., Zhao, Jiagang, Balajonda, Elmer, Rosenwasser, George O., Baratz, Keith H, Mootha, V. Vinod, Patel, Sanjay V., Gregory, Simon G., Bailey-Wilson, Joan E., Price, Marianne O., Price, Francis W., Craig, Jamie E., Fingert, John H., Gottsch, John D., Aldave, Anthony J., Klintworth, Gordon K., Lass, Jonathan H., Li, Yi-Ju, Iyengar, Sudha K.
Publicado no Nat Commun (2017)

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Por Gharahkhani, Puya, Burdon, Kathryn P, Fogarty, Rhys, Sharma, Shiwani, Hewitt, Alex W., Martin, Sarah, Law, Matthew H., Cremin, Katie, Bailey, Jessica N. Cooke, Loomis, Stephanie J., Pasquale, Louis R., Haines, Jonathan L., Hauser, Michael A., Viswanathan, Ananth C., McGuffin, Peter, Topouzis, Fotis, Foster, Paul J., Graham, Stuart L, Casson, Robert J, Chehade, Mark, White, Andrew J, Zhou, Tiger, Souzeau, Emmanuelle, Landers, John, Fitzgerald, Jude T, Klebe, Sonja, Ruddle, Jonathan B, Goldberg, Ivan, Healey, Paul R, Mills, Richard A., Wang, Jie Jin, Montgomery, Grant W., Martin, Nicholas G., RadfordSmith, Graham, Whiteman, David C., Brown, Matthew A., Wiggs, Janey L., Mackey, David A, Mitchell, Paul, MacGregor, Stuart, Craig, Jamie E.
Publicado em 2014