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Human Genetics|August 29, 2009
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesDavid P Dimasi, Jern Y Chen, Alex W Hewitt, et al.
Investigative Ophthalmology & Visual Science|March 28, 2009
An international collaborative family-based whole-genome linkage scan for high-grade myopiaYi-Ju Li, Jeremy A Guggenheim, Anuradha Bulusu, et al.
European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.
BMJ Open Ophthalmology|September 26, 2022
Pathogenic genetic variants identified in Australian families with paediatric cataractJohanna L Jones, Bennet J McComish, Sandra E Staffieri, et al.
American Journal of Ophthalmology|November 5, 2003
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucomaWallace L M Alward, Young H Kwon, Kazuhide Kawase, et al.
Investigative Ophthalmology & Visual Science|January 25, 2006
A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variabilityMichael B Petersen, George Kitsos, John R Samples, et al.
Psychosomatic Medicine|November 7, 2014
Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adultsMadeline H Meier, Nathan A Gillespie, Narelle K Hansell, et al.
Ophthalmic Genetics|September 28, 2020
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathyDanial Roshandel, Jennifer A Thompson, Jason Charng, et al.
Human Mutation|October 11, 2022
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panelKathryn P Burdon, Patricia Graham, Johanna Hadler, et al.
American Journal of Ophthalmology|October 7, 2014
Copy number variations of TBK1 in Australian patients with primary open-angle glaucomaMona S Awadalla, John H Fingert, Benjamin E Roos, et al.
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