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American Journal of Human Genetics|October 18, 2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationKathryn P Burdon, James D McKay, Michèle M Sale, et al.
The Journal of Investigative Dermatology|May 16, 2017
Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin AgingMatthew H Law, Sarah E Medland, Gu Zhu, et al.
Iscience|September 30, 2018
Single-Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial MediaMaciej Daniszewski, Quan Nguyen, Hun S Chy, et al.
European Journal of Human Genetics : EJHG|October 13, 2017
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variantsEmmanuelle Souzeau, Owen M Siggs, Tiger Zhou, et al.
American Journal of Human Genetics|April 14, 2009
Null mutations in LTBP2 cause primary congenital glaucomaManir Ali, Martin McKibbin, Adam Booth, et al.
Investigative Ophthalmology & Visual Science|August 12, 2020
Recurrent Rare Copy Number Variants Increase Risk for EsotropiaMary C Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, et al.
Nature Communications|November 17, 2024
Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucomaSantiago Diaz-Torres, Weixiong He, Regina Yu, et al.
Nature Genetics|May 3, 2011
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1Kathryn P Burdon, Stuart Macgregor, Alex W Hewitt, et al.
International Journal of Epidemiology|June 7, 2017
Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization studyGabriel Cuellar-Partida, Katie M Williams, Seyhan Yazar, et al.
Genetic Epidemiology|September 10, 2016
When do myopia genes have their effect? Comparison of genetic risks between children and adultsJ Willem L Tideman, Qiao Fan, Jan Roelof Polling, et al.
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