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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.
Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: kearns ls. Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.017. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863275 Free PMC article. No abstract available.
PAX6 mutations may be associated with high myopia.
Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA. Hewitt AW, et al. Among authors: kearns ls. Ophthalmic Genet. 2007 Sep;28(3):179-82. doi: 10.1080/13816810701356676. Ophthalmic Genet. 2007. PMID: 17896318
The natural history of OPA1-related autosomal dominant optic atrophy.
Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, Mackey DA. Cohn AC, et al. Among authors: kearns ls. Br J Ophthalmol. 2008 Oct;92(10):1333-6. doi: 10.1136/bjo.2007.134726. Epub 2008 Jul 24. Br J Ophthalmol. 2008. PMID: 18653586
94 results