Browsing by Author Souzeau, Emmanuelle

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Showing results 1 to 8 of 8
Issue DateTitleAuthor(s)Citation
2016Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degenerationMitchell, Paul; Wang, Jie Jin; Burdon, K P; Constable, Ian J; Craig, Jamie E.; Cuellar-Partida, Gabriel; Hewitt, A W; Isaacs, Timothy; Lake, Stewart; MacGregor, Stuart; Mackey, D A; McAllister, Ian; Souzeau, Emmanuelle; Vote, Brendan; Western Clinical School: Westmead Institute for Medical Res; Western Clinical School: Westmead Institute for Medical ResAssessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration, Scientific Reports, vol.6, N/A, 2016,pp 1-6
2017Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucomaGoldberg, Ivan; Healey, Paul; et al, Various; Galanopoulos, Anna; Graham, Stuart L; Hewitt, Alex; Landers, John; Mackey, David; Mills, Richard; Siggs, Owen; Souzeau, Emmanuelle; Zhou, Tiger; Central Clinical School: Ophthalmology & Eye Health; Western Clinical School: Clinical Ophthal & Eye HealthContribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma, Investigative Ophthalmology and Visual Science, vol.58, 3, 2017,pp 1537-1544
2017Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variantsSmith, James; Elder, J; et al, Various; Galanopoulos, Anna; Hodson, T; Landers, John; Mills, Richard; Pater, John B; Siggs, Owen; Souzeau, Emmanuelle; Taranath, Deepa; Zhou, Tiger; Central Clinical School: Ophthalmology & Eye HealthGlaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants, European Journal of Human Genetics, vol.25, 7, 2017,pp 839-847
2013Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registryGoldberg, Ivan; Burdon, Kathryn P; Craig, Jamie E.; Crawford, April; Dubowsky, Andrew; Fitzgerald, Jude; Grist, Scott; Hewitt, Alex W.; Landers, John; Mackey, David; Mills, Richard; Ruddle, Jonathan; Souzeau, Emmanuelle; Usher, Bronwyn; Central Clinical School: Ophthalmology & Eye HealthHigher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry, Ophthalmology, vol.120, 6, 2013,pp 1135-1143
2013Mutational analysis of MIR184 in sporadic keratoconus and myopiaMitchell, Paul; Ali, Manir; Bae, Ha Ae; Coster, Doug; Das, Manoranjan; et al, Various; Farraj, Layal Abi; Govindarajan, Gowthaman; Guduric-Fuchs, Jasenka; Lechner, Judith; Lindsay, Richard; Mills, Richard; Phillips, Tony; Rice, Aine; Siddiqui, Salina; Souzeau, Emmanuelle; Yap, Maurice; Yip, Shea Ping; Western Clinical School: Westmead Millennium InstituteMutational analysis of MIR184 in sporadic keratoconus and myopia, Investigative Ophthalmology & Visual Science, vol.54, 8, 2013,pp 5266-5272
2015Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field LossGoldberg, Ivan; Healey, Paul; Awadalla, Mona; Elder, James E.; et al, Various; Hayes, Melanie; Mackey, David; Ridge, Bronwyn; Ruddle, Jonathan; Siggs, Owen; Smith, James; Souzeau, Emmanuelle; Zhou, Tiger; Central Clinical School: Ophthalmology & Eye Health; Central Clinical School: Ophthalmology & Eye HealthOccurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss, JAMA Ophthalmology, vol.123, 7, 2015,pp 826-833
2015Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucomaWechsler, David; Burdon, Kathryn P; Chehade, Mark J; Craig, Jamie E.; Dubowsky, Andrew; Glading, Jodi A; Ridge, Bronwyn; Souzeau, Emmanuelle; Central Clinical School: Clinical Ophthal & Eye HealthPredictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma, Clinical Genetics, vol.88, 6, 2015,pp 584-588
2017Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucomaGoldberg, Ivan; Graham, Stuart Lindsay; Healey, Paul; Casson, Robert; et al, Various; Galanopoulos, Anna; Hewitt, Alex; Landers, John; Mackey, David; Mills, Richard; Sharma, Shiwana; Souzeau, Emmanuelle; Zhou, Tiger; Central Clinical School: Ophthalmology & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Western Clinical School: Clinical Ophthal & Eye HealthWhole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma, PloS One, vol.12, 3, 2017,pp 1-18