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Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Lachke SA, et al. Among authors: drack av. Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970. Science. 2011. PMID: 21436445 Free PMC article.
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV. Stiff HA, et al. Among authors: drack av. Ophthalmic Genet. 2020 Apr;41(2):151-158. doi: 10.1080/13816810.2020.1747088. Epub 2020 Apr 13. Ophthalmic Genet. 2020. PMID: 32281467 Free PMC article.
Efficacy of topical brinzolamide in children with retinal dystrophies.
Scruggs BA, Chen CV, Pfeifer W, Wiley JS, Wang K, Drack AV. Scruggs BA, et al. Among authors: drack av. Ophthalmic Genet. 2019 Aug;40(4):350-358. doi: 10.1080/13816810.2019.1660381. Epub 2019 Sep 9. Ophthalmic Genet. 2019. PMID: 31496370 Free PMC article.
Clinical phenocopies of albinism.
Dumitrescu AV, Pfeifer WL, Drack AV. Dumitrescu AV, et al. Among authors: drack av. J AAPOS. 2021 Aug;25(4):220.e1-220.e8. doi: 10.1016/j.jaapos.2021.03.015. Epub 2021 Jul 17. J AAPOS. 2021. PMID: 34280564
119 results