Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

द्वारा Souzeau, Emmanuelle, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
में प्रकाशित Mol Genet Genomic Med (2019)

Endophthalmitis associated with Glaucoma Shunt Intraluminal Stent Exposure

द्वारा Kwon, Hye Jin, Kerr, Nathan M, Ruddle, Jonathan B, Ang, Ghee Soon
में प्रकाशित J Curr Glaucoma Pract (2016)

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

द्वारा Souzeau, Emmanuelle, Burdon, Kathryn P., Ridge, Bronwyn, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
में प्रकाशित BMC Med Genet (2016)

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

द्वारा Young, Thomas K., Souzeau, Emmanuelle, Liu, Lance, Kearns, Lisa S., Burdon, Kathryn P., Craig, Jamie E., Ruddle, Jonathan B.
प्रकाशित 2012

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

द्वारा Baderna, Valentina, Schultz, Joshua, Kearns, Lisa S., Fahey, Michael, Thompson, Bryony A., Ruddle, Jonathan B., Huq, Aamira, Maltecca, Francesca
में प्रकाशित Acta Neuropathol Commun (2020)

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

द्वारा Siggs, Owen M., Souzeau, Emmanuelle, Breen, James, Qassim, Ayub, Zhou, Tiger, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
में प्रकाशित Mol Vis (2019)

Ophthalmic Phenotypes and the Representativeness of Twin Data for the General Population

द्वारा Sanfilippo, Paul G., Medland, Sarah E., Hewitt, Alex W., Kearns, Lisa S., Ruddle, Jonathan B., Sun, Cong, Hammond, Christopher J., Young, Terri L., Martin, Nicholas G., Mackey, David A.
प्रकाशित 2011

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

द्वारा Souzeau, Emmanuelle, Hayes, Melanie, Ruddle, Jonathan B., Elder, James E., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Zhou, Tiger, Ridge, Bronwyn, Burdon, Kathryn P., Dubowsky, Andrew, Craig, Jamie E.
में प्रकाशित Mol Vis (2015)

Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins

द्वारा Mackey, David A, MacKinnon, Jane R, Brown, Shayne A, Kearns, Lisa S, Ruddle, Jonathan B, Sanfilippo, Paul G, Sun, Cong, Hammond, Christopher J, Young, Terri L, Martin, Nicholas G, Hewitt, Alex W
प्रकाशित 2009

Quantitative Genetic Analysis of Retinal Vascular Caliber: the Australian Twins Eye Study

द्वारा Sun, Cong, Zhu, Gu, Wong, Tien Y., Hewitt, Alex W., Ruddle, Jonathan B., Hodgson, Lauren, Montgomery, Grant W., Young, Terri L., Hammond, Christopher J., Craig, Jamie E., Martin, Nicholas G., He, Mingguang, Mackey, David A.
में प्रकाशित Hypertension (2009)

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

द्वारा Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
प्रकाशित 2010

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

द्वारा Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
में प्रकाशित Am J Hum Genet (2016)

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

द्वारा Gardner, Jessica C, Liew, Gerald, Quan, Ying-Hua, Ermetal, Burcu, Ueyama, Hisao, Davidson, Alice E, Schwarz, Nele, Kanuga, Naheed, Chana, Ravinder, Maher, Eamonn R, Webster, Andrew R, Holder, Graham E, Robson, Anthony G, Cheetham, Michael E, Liebelt, Jan, Ruddle, Jonathan B, Moore, Anthony T, Michaelides, Michel, Hardcastle, Alison J
में प्रकाशित Hum Mutat (2014)

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

द्वारा 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.
में प्रकाशित PLoS One (2017)

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

द्वारा Lu, Yi, Dimasi, David P., Hysi, Pirro G., Hewitt, Alex W., Burdon, Kathryn P., Toh, Tze'Yo, Ruddle, Jonathan B., Li, Yi Ju, Mitchell, Paul, Healey, Paul R., Montgomery, Grant W., Hansell, Narelle, Spector, Timothy D., Martin, Nicholas G., Young, Terri L., Hammond, Christopher J., Macgregor, Stuart, Craig, Jamie E., Mackey, David A.
प्रकाशित 2010

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

द्वारा Siggs, Owen M, Awadalla, Mona S, Souzeau, Emmanuelle, Staffieri, Sandra E, Kearns, Lisa S, Laurie, Kate, Kuot, Abraham, Qassim, Ayub, Edwards, Thomas L, Coote, Michael A, Mancel, Erica, Walland, Mark J, Dondey, Joanne, Galanopoulous, Anna, Casson, Robert J, Mills, Richard A, MacArthur, Daniel G, Ruddle, Jonathan B, Burdon, Kathryn P, Craig, Jamie E
में प्रकाशित Clin Genet (2020)

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

द्वारा Souzeau, Emmanuelle, Siggs, Owen M, Zhou, Tiger, Galanopoulos, Anna, Hodson, Trevor, Taranath, Deepa, Mills, Richard A, Landers, John, Pater, John, Smith, James E, Elder, James E, Rait, Julian L, Giles, Paul, Phakey, Vivek, Staffieri, Sandra E, Kearns, Lisa S, Dubowsky, Andrew, Mackey, David A, Hewitt, Alex W, Ruddle, Jonathan B, Burdon, Kathryn P, Craig, Jamie E
में प्रकाशित Eur J Hum Genet (2017)

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

द्वारा Souzeau, Emmanuelle, Siggs, Owen M, Zhou, Tiger, Galanopoulos, Anna, Hodson, Trevor, Taranath, Deepa, Mills, Richard A, Landers, John, Pater, John, Smith, James E, Elder, James E, Rait, Julian L, Giles, Paul, Phakey, Vivek, Staffieri, Sandra E, Kearns, Lisa S, Dubowsky, Andrew, Mackey, David A, Hewitt, Alex W, Ruddle, Jonathan B, Burdon, Kathryn P, Craig, Jamie E
में प्रकाशित Eur J Hum Genet (2017)

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

द्वारा Han, Xikun, Souzeau, Emmanuelle, Ong, Jue-Sheng, An, Jiyuan, Siggs, Owen M., Burdon, Kathryn P., Best, Stephen, Goldberg, Ivan, Healey, Paul R., Graham, Stuart L., Ruddle, Jonathan B., Mills, Richard A., Landers, John, Galanopoulos, Anna, White, Andrew J.R., Casson, Robert, Mackey, David A., Hewitt, Alex W., Gharahkhani, Puya, Craig, Jamie E., MacGregor, Stuart
में प्रकाशित JAMA Ophthalmol (2018)

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

द्वारा Siggs, Owen M., Souzeau, Emmanuelle, Pasutto, Francesca, Dubowsky, Andrew, Smith, James E. H., Taranath, Deepa, Pater, John, Rait, Julian L., Narita, Andrew, Mauri, Lucia, Del Longo, Alessandra, Reis, André, Chappell, Angela, Kearns, Lisa S., Staffieri, Sandra E., Elder, James E., Ruddle, Jonathan B., Hewitt, Alex W., Burdon, Kathryn P., Mackey, David A., Craig, Jamie E.
में प्रकाशित JAMA Ophthalmol (2019)