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American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.Nature Genetics|April 2, 2020
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopiaPirro G Hysi, Hélène Choquet, Anthony P Khawaja, et al.Nature Genetics|June 29, 2023
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk lociXikun Han, Puya Gharahkhani, Andrew R Hamel, et al.Human Molecular Genetics|June 7, 2015
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thicknessGabriel Cuellar-Partida, Henriët Springelkamp, Sionne E M Lucas, et al.Ophthalmology Science|October 17, 2022
The APOE E4 Allele Is Associated with Faster Rates of Neuroretinal Thinning in a Prospective Cohort Study of Suspect and Early GlaucomaSean Mullany, Henry Marshall, Santiago Diaz-Torres, et al.Ophthalmology|February 26, 2025
A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with PseudoexfoliationAntonia Kolovos, Ayub Qassim, Mark M Hassall, et al.Nature Neuroscience|November 25, 2025
Large-scale drug screening in iPSC-derived motor neurons from sporadic ALS patients identifies a potential combinatorial therapyChristopher R Bye, Elizabeth Qian, Katherine Lim, et al.Ophthalmology. Glaucoma|October 23, 2025
A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion SyndromeAntonia Kolovos, Ayub Qassim, Henry N Marshall, et al.American Journal of Ophthalmology|May 24, 2019
Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous PhenotypesVincent Laville, Jae H Kang, Clara C Cousins, et al.Nature Communications|July 26, 2022
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degenerationAnne Senabouth, Maciej Daniszewski, Grace E Lidgerwood, et al.Pageof 59