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A selection of publications from our group. For a full listing of current publications, please see PubMed.

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  Novel Gene Identification

Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV. (2015) Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts. PLoS Genet. 2015; 11(2):e1005002. Abstract

  Whole genome/exome studies

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. Eur J Hum Genet. 2016 24(4):535-41. Abstract

Deml B, Reis LM, Muheisen S, Bick D, Semina EV. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Birth Defects Res A Clin Mol Teratol. 2015 Jul;103(7):630-40. Abstract

Weh E, Reis LM, Happ HC, Levin AV, Wheeler PG, David KL, Carney E, Angle B, Hauser N, Semina EV. Whole exome sequence analysis of Peters anomaly. Hum Genet. 2014;133:1497-511. Abstract

Reis LM, Tyler RC, Semina EV. Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. Mol Vis. 2014;20:836-42. Abstract

Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clin Genet. 2014;86:475-81. Abstract

Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013; 132(7):761-70. Abstract

Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV. Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet. 2013;84(5):473-81. Abstract

  Reviews and Book Chapters

Reis LM, Semina EV. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Res C Embryo Today. 2015 Jun;105(2):96-113.  Abstract

Reis LM, Semina EV. Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol. 2011 Sep;22(5):314-24. Abstract

Semina EV PITX2 and PITX3:Axenfeld-Rieger syndrome, Peters Anomaly, Anterior Segment Ocular Dysgenesis, Ring Dermoid of the Cornea, Posterior Polar Congenital Cataract (CPP4), and MIcrophthalmia with Neurologic Impairment. In Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis, Oxford University Press. 2008. 757-767.

Ruttum MS, Reis LM, Semina EV. Application of genetic approaches to ocular disease. Pediatr Clin North Am. 2006 Aug;53(4):751-65. Review. Abstract

Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005 Nov 8;7(25):1-17. Abstract

McMahon C, Semina EV, Link BA. Using zebrafish to study the complex genetics of glaucoma. Comp Biochem Physiol C Toxicol Pharmacol. 2004 Jul;138(3):343-50. Review. Abstract

Semina EV. Chapter 1: Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2. In The Molecular mechanisms of Rieger syndrome, Landes Bioscience. 2005. 1-9. Link

Semina EV. Chapter 9: PITX genes and Ocular Development. In The Molecular mechanisms of Rieger syndrome, Landes Bioscience. 2005. 93-100. Link

Semina EV PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis. In Molecular Basis of Inborn Errors of Development, published by Oxford University Press. 2003. 599-606.


Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV. Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet. 2013; 84(5):473-81. Abstract

Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. 2008 Oct 15;146A(20):2603-10. Abstract


Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV.BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011 Oct;130(4):495-504. Abstract


Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis. 2010 Aug 22;16:1705-11. Abstract

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A. 2010 Mar;152A(3):582-90. Abstract

Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet. 2001 Feb 1;10(3):231-6. Abstract


Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet. 2011 Feb;79(2):158-68. Abstract


Li X, Venugopalan SR, Cao H, Pinho FO, Paine ML, Snead ML, Semina EV, Amendt BA. A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. Hum Mol Genet. 2014 Jan 1;23(1):194-208. Abstract

Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012 May 9. Abstract

Liu Y, Semina EV. pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish. PLoS One. 2012;7(1):e30896. Abstract

Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Invest Ophthalmol Vis Sci. 2011 Mar 18;52(3):1450-9. Abstract

Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996 Dec;14(4):392-9. Abstract

Semina EV, Datson NA, Leysens NJ, Zabel BU, Carey JC, Bell GI, Bitoun P, Lindgren C, Stevenson T, Frants RR, van Ommen G, Murray JC. Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. Am J Hum Genet. 1996 Dec;59(6):1288-96. Abstract


Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E. Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. Orphanet J Rare Dis. 2014;9:26. Abstract

Shi X, Bosenko DV, Zinkevich NS, Foley S, Hyde DR, Semina EV, Vihtelic TS. Zebrafish pitx3 is necessary for normal lens and retinal development. Mech Dev. 2005 Apr;122(4):513-27. Abstract

Sakazume S, Sorokina E, Iwamoto Y, Semina EV. Functional analysis of human mutations in homeodomain transcription factor PITX3.BMC Mol Biol. 2007 Sep 21;8:84. Abstract

Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet. 1998 Jun;19(2):167-70. Abstract


Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Mol Vis. 2010 Apr 28;16:768-73. Abstract

Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A. 2009 Dec;149A(12):2706-15. Abstract


Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV. VSX2 mutations in autosomal recessive microphthalmia. Mol Vis. 2011;17:2527-32. Abstract

  Other candidate genes

Pathania M, Semina EV, Duncan MK. Lens extrusion from Laminin alpha 1 mutant zebrafish. ScientificWorldJournal. 2014;2014:524929. Abstract

Reis LM, Tyler RC, Zori R, Burgess J, Mueller J, Semina EV. A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. Ophthalmic Genet. 2015 Mar;36(1):92-4. Abstract

Kloss BA, Reis LM, Brémond-Gignac D, Glaser T, Semina EV. Analysis of FOXD3 sequence variation in human ocular disease. Mol Vis. 2012;18:1740-9. Abstract

Sorokina EA, Muheisen S, Mlodik N, Semina EV. MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens. PLoS One. 2011;6(6):e21122. Abstract

Semina EV, Bosenko DV, Zinkevich NC, Soules KA, Hyde DR, Vihtelic TS, Willer GB, Gregg RG, Link BA. Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Dev Biol. 2006 Nov 1;299(1):63-77. Abstract

Zinkevich NS, Bosenko DV, Link BA, Semina EV. laminin alpha 1 gene is essential for normal lens development in zebrafish. BMC Dev Biol. 2006 Mar 7;6:13. Abstract

Dr. Semina Lab Contact

Linda Reis, MS, CGC
Study Coordinator
(414) 955-7645 | Fax: (414) 955-6329

Elena Semina, PhD
(414) 955-4996 | Fax: (414) 955-6329

Pediatrics Developmental Biology
Translational & Biomedical Research Center, Third Floor
Children's Research Institute
8701 Watertown Plank Road
Milwaukee, WI 53226