| 2 | Fabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities. (Erdman ME, Ch S, Mohiuddin A, Al-Kirwi K, Rasper MR, Sokupa S, Low SWY, Skumatz CMB, De Stefano V, Kassem IS, Chaurasia SS) Invest Ophthalmol Vis Sci 2024 Aug 01;65(10):14 3 Citations |
| 1 | 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) Invest Ophthalmol Vis Sci 2024 Apr 01;65(4):20 2 Citations |
| 1 | Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome. (Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW) Am J Med Genet A 2024 May;194(5):e63542 3 Citations |
| 2 | Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum. (Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV) Genes (Basel) 2023 Oct 17;14(10) 13 Citations |
| 2 | 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) Clin Genet 2021 Mar;99(3):437-442 17 Citations |
| 3 | Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome. (Ferre-Fernández JJ, Sorokina EA, Thompson S, Collery RF, Nordquist E, Lincoln J, Semina EV) Hum Mol Genet 2020 Sep 29;29(16):2723-2735 18 Citations |
| 1 | Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. (Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF Jr, Semina EV) Clin Genet 2020 Mar;97(3):502-508 19 Citations |
| 4 | PITX2 deficiency and associated human disease: insights from the zebrafish model. (Hendee KE, Sorokina EA, Muheisen SS, Reis LM, Tyler RC, Markovic V, Cuturilo G, Link BA, Semina EV) Hum Mol Genet 2018 May 15;27(10):1675-1695 52 Citations |
| 1 | Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. (Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB) Hum Mol Genet 2017 Sep 15;26(18):3630-3638 32 Citations |
| 3 | 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) Mol Vis 2016;22:1229-1238 19 Citations |
| 2 | 8q21.11 microdeletion in two patients with syndromic peters anomaly. (Happ H, Schilter KF, Weh E, Reis LM, Semina EV) Am J Med Genet A 2016 Sep;170(9):2471-5 25 Citations |
| 1 | Whole exome sequence analysis of Peters anomaly. (Weh E, Reis LM, Happ HC, Levin AV, Wheeler PG, David KL, Carney E, Angle B, Hauser N, Semina EV) Hum Genet 2014 Dec;133(12):1497-511 70 Citations |
| 1 | Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. (Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E) Orphanet J Rare Dis 2014 Feb 20;9:26 31 Citations |
| 1 | A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. (Li X, Venugopalan SR, Cao H, Pinho FO, Paine ML, Snead ML, Semina EV, Amendt BA) Hum Mol Genet 2014 Jan 01;23(1):194-208 24 Citations |
| 1 | Analysis of FOXD3 sequence variation in human ocular disease. (Kloss BA, Reis LM, Brémond-Gignac D, Glaser T, Semina EV) Mol Vis 2012;18:1740-9 16 Citations |
| 3 | PITX2 and FOXC1 spectrum of mutations in ocular syndromes. (Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV) Eur J Hum Genet 2012 Dec;20(12):1224-33 130 Citations |
| 1 | Genetics of anterior segment dysgenesis disorders. (Reis LM, Semina EV) Curr Opin Ophthalmol 2011 Sep;22(5):314-24 138 Citations |
| 5 | Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. (Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV) Invest Ophthalmol Vis Sci 2011 Mar;52(3):1450-9 47 Citations |
| 1 | Bilateral developmental glaucoma associated with optic disc pit and uveal effusion. (Ichhpujani P, Ramasubramanian A, Pandav S, Kaushik S) Ophthalmic Surg Lasers Imaging 2009;40(3):290-2 |
| 1 | Functional analysis of human mutations in homeodomain transcription factor PITX3. (Sakazume S, Sorokina E, Iwamoto Y, Semina EV) BMC Mol Biol 2007 Sep 21;8:84 32 Citations |
| 2 | Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. (Semina EV, Bosenko DV, Zinkevich NC, Soules KA, Hyde DR, Vihtelic TS, Willer GB, Gregg RG, Link BA) Dev Biol 2006 Nov 01;299(1):63-77 60 Citations |
| 1 | Morphogenesis of the anterior segment in the zebrafish eye. (Soules KA, Link BA) BMC Dev Biol 2005 Jun 28;5:12 140 Citations |
| 1 | A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE) Ophthalmic Genet 2004 Mar;25(1):57-62 26 Citations |
| 1 | Long-term follow-up of iatrogenic phototoxicity. (Postel EA, Pulido JS, Byrnes GA, Heier J, Waterhouse W, Han DP, Mieler WF, Guse C, Wipplinger W) Arch Ophthalmol 1998 Jun;116(6):753-7 57 Citations |
| 1 | A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. (Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC) Nat Genet 1998 Jun;19(2):167-70 351 Citations |
| 1 | Aqueous tube shunt to a preexisting episcleral encircling element in the treatment of complicated glaucomas. (Sidoti PA, Minckler DS, Baerveldt G, Lee PP, Heuer DK) Ophthalmology 1994 Jun;101(6):1036-43 38 Citations |
| 1 | Evaluation of anterior segment tolerance to short-term intravitreal perfluoron. (Han DP, Nanda SK, O'Brien WJ, Guy J, Murray TG, Boldt HC) Retina 1994;14(3):219-24 12 Citations |
| 1 | Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. (Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WL, Weber JL, Bell GI, Buetow KH) Nat Genet 1992 Sep;2(1):46-9 |
| 1 | Collagen shield delivery of tissue plasminogen activator: functional and pharmacokinetic studies of anterior segment delivery. (Murray TG, Jaffe GJ, McKay BS, Han DP, Burke JM, Abrams GW) Refract Corneal Surg 1992;8(1):44-8; discussion 48-53 11 Citations |
