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Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV. Albakri A, et al. Among authors: schneider a. Am J Med Genet A. 2023 Apr;191(4):1007-1012. doi: 10.1002/ajmg.a.63108. Epub 2023 Jan 3. Am J Med Genet A. 2023. PMID: 36595661 Free PMC article.
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A. Bardakjian T, et al. Among authors: schneider a. Am J Ophthalmol Case Rep. 2017 Jun 21;7:102-106. doi: 10.1016/j.ajoc.2017.06.006. eCollection 2017 Sep. Am J Ophthalmol Case Rep. 2017. PMID: 29260090 Free PMC article.
Ocular manifestations of PACS1 mutation.
Pefkianaki M, Schneider A, Capasso JE, Wasserman BN, Bardakjian T, Levin AV. Pefkianaki M, et al. Among authors: schneider a. J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14. J AAPOS. 2018. PMID: 29550517
Ophthalmic manifestations associated with RARB mutations.
Wangtiraumnuay N, Kopinsky S, Iyer P, Capasso J, Whitehead R, Schneider A, Levin AV. Wangtiraumnuay N, et al. Among authors: schneider a. Clin Dysmorphol. 2019 Jan;28(1):46-49. doi: 10.1097/MCD.0000000000000246. Clin Dysmorphol. 2019. PMID: 30281527 No abstract available.
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Reis LM, et al. Among authors: schneider a. Hum Mol Genet. 2021 Aug 12;30(17):1591-1606. doi: 10.1093/hmg/ddab142. Hum Mol Genet. 2021. PMID: 34046667 Free PMC article.
4,909 results