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Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: costakos d. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV. Reis LM, et al. Among authors: costakos d. Mol Vis. 2016 Oct 17;22:1229-1238. eCollection 2016. Mol Vis. 2016. PMID: 27777502 Free PMC article.
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV. Reis LM, et al. Among authors: costakos d. Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16. Clin Genet. 2021. PMID: 33314030 Free PMC article.
In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.
Untaroiu A, Reis LM, Higgins BP, Walesa A, Zacharias S, Nikezic D, Costakos DM, Carroll J, Semina EV. Untaroiu A, et al. Among authors: costakos dm. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):20. doi: 10.1167/iovs.65.4.20. Invest Ophthalmol Vis Sci. 2024. PMID: 38587439 Free PMC article.
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.
Drack AV, Miraldi Utz V, Wang K, Alcorn DM, Brooks BP, Costakos DM, Couser NL, Heon E, Levin AV, Lloyd IC, Morse CL, Schmitt MA, Whitman MC, Traboulsi EI. Drack AV, et al. Among authors: costakos dm. J AAPOS. 2019 Aug;23(4):226-228.e1. doi: 10.1016/j.jaapos.2019.04.005. Epub 2019 Jun 21. J AAPOS. 2019. PMID: 31233830
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM, Woertz EN, Wynne N, Brooks BP, Chacon A, Connor TB Jr, Costakos D, Dumitrescu A, Drack AV, Fishman GA, Hauswirth WW, Kay CN, Lam BL, Michaelides M, Pennesi ME, Stepien KE, Strul S, Summers CG, Carroll J. Litts KM, et al. Among authors: costakos d. Transl Vis Sci Technol. 2021 May 3;10(6):22. doi: 10.1167/tvst.10.6.22. Transl Vis Sci Technol. 2021. PMID: 34111268 Free PMC article.
47 results