Medical College of Wisconsin
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Elena V. Semina PhD

Chief, Professor

Institution: Medical College of Wisconsin
Department: Ophthalmology and Visual Sciences
Program: Research

View Curriculum Vitae

Research Areas of Interest

  • Animals
  • Aniridia
  • Cataract
  • Child
  • Coloboma
  • Eye Abnormalities
  • Eye Diseases, Hereditary
  • Glaucoma
  • Humans
  • Infant
  • Zebrafish

    • Research Experience

  • Adult
  • Animals
  • Cataract
  • Child
  • Child, Preschool
  • Eye Diseases, Hereditary
  • Glaucoma
  • Humans
  • Zebrafish

    • Publications (112)

  • 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) American Journal of Medical Genetics, Part A May 2024;194(5) SCOPUS ID: 2-s2.0-85182427833 05/01/2024       1 Citation
  • A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element (Replogle MR, Thompson S, Reis LM, Semina EV) Human Mutation 2024;2024 SCOPUS ID: 2-s2.0-85185155859 01/01/2024    
  • CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology (Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K) European Journal of Human Genetics November 2023;31(11):1251-1260 SCOPUS ID: 2-s2.0-85168862554 11/01/2023       3 Citations
  • 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) PMID: 37895297 PMCID: PMC10606241 SCOPUS ID: 2-s2.0-85175276734 10/28/2023       1 Citation
  • CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. (Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K) Eur J Hum Genet 2023 Nov;31(11):1251-1260 PMID: 37644171 PMCID: PMC10620399 SCOPUS ID: 2-s2.0-85168862554 08/30/2023       3 Citations
  • Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. (Reis LM, Atilla H, Kannu P, Schneider A, Thompson S, Bardakjian T, Semina EV) Genes (Basel) 2023 Jan 14;14(1) PMID: 36672956 PMCID: PMC9859058 SCOPUS ID: 2-s2.0-85146756040 01/22/2023       1 Citation
  • Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. (Seese SE, Muheisen S, Gath N, Gross JM, Semina EV) Dev Dyn 2023 Apr;252(4):510-526 PMID: 36576422 PMCID: PMC10947772 SCOPUS ID: 2-s2.0-85145738490 12/29/2022       2 Citations
  • ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. (Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV) Eur J Hum Genet 2023 Mar;31(3):363-367 PMID: 36450800 PMCID: PMC9995503 SCOPUS ID: 2-s2.0-85143135154 12/01/2022       5 Citations
  • TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. (Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR) Am J Hum Genet 2022 Dec 01;109(12):2270-2282 PMID: 36368327 PMCID: PMC9748253 SCOPUS ID: 2-s2.0-85143379858 11/12/2022       2 Citations
  • CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements. (Ferre-Fernández JJ, Muheisen S, Thompson S, Semina EV) Hum Genomics 2022 Oct 25;16(1):49 PMID: 36284357 PMCID: PMC9597995 SCOPUS ID: 2-s2.0-85140618755 10/27/2022       1 Citation
  • Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches. (Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D) Prog Retin Eye Res 2023 Jul;95:101133 PMID: 36280537 PMCID: PMC11062406 SCOPUS ID: 2-s2.0-85140714174 10/25/2022       20 Citations
  • Novel Genetic Diagnoses in Septo-Optic Dysplasia. (Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV) Genes (Basel) 2022 Jun 28;13(7) PMID: 35885948 PMCID: PMC9320703 SCOPUS ID: 2-s2.0-85133527590 07/28/2022       4 Citations
  • 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) J Med Genet 2023 Apr;60(4):368-379 PMID: 35882526 PMCID: PMC9912354 SCOPUS ID: 2-s2.0-85135137847 07/27/2022       26 Citations
  • Novel Genetic Diagnoses in Septo-Optic Dysplasia (Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, Semina EV) Genes July 2022;13(7) SCOPUS ID: 2-s2.0-85133527590 07/01/2022       4 Citations
  • SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. (Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV, University of Washington Centre for Mendelian Genomics (UW-CMG), Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M, Genomics England Research Consortium, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A) Genet Med 2022 Jun;24(6):1261-1273 PMID: 35341651 PMCID: PMC9245088 SCOPUS ID: 2-s2.0-85127338633 03/29/2022       14 Citations
  • Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study (Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A) American Journal of Medical Genetics, Part A January 2022;188(1):187-198 SCOPUS ID: 2-s2.0-85115658928 01/01/2022       8 Citations
  • WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. (Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D, Ellingson MS, Hasadsri L, van Bever Y, Semina EV) Hum Genet 2021 Dec;140(12):1775-1789 PMID: 34642815 PMCID: PMC9241141 SCOPUS ID: 2-s2.0-85117037209 10/14/2021       3 Citations
  • Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study. (Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A) Am J Med Genet A 2022 Jan;188(1):187-198 PMID: 34562068 PMCID: PMC9169870 SCOPUS ID: 2-s2.0-85115658928 09/26/2021       8 Citations
  • 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) Hum Mol Genet 2021 Aug 12;30(17):1591-1606 PMID: 34046667 PMCID: PMC8369840 SCOPUS ID: 2-s2.0-85114364746 05/29/2021       7 Citations
  • Identification of missense MAB21L1 variants in microphthalmia and aniridia. (Seese SE, Reis LM, Deml B, Griffith C, Reich A, Jamieson RV, Semina EV) Hum Mutat 2021 Jul;42(7):877-890 PMID: 33973683 PMCID: PMC8238893 SCOPUS ID: 2-s2.0-85106302441 05/12/2021       12 Citations
  • Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways. (Seese SE, Deml B, Muheisen S, Sorokina E, Semina EV) Dev Dyn 2021 Aug;250(8):1056-1073 PMID: 33570754 PMCID: PMC8349561 SCOPUS ID: 2-s2.0-85102653887 02/12/2021       8 Citations
  • 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 PMID: 33314030 PMCID: PMC8259391 SCOPUS ID: 2-s2.0-85097633599 12/15/2020       7 Citations
  • Compound heterozygous splicing CDON variants result in isolated ocular coloboma. (Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV) Clin Genet 2020 Nov;98(5):486-492 PMID: 32729136 PMCID: PMC8341436 SCOPUS ID: 2-s2.0-85089451171 07/31/2020       5 Citations
  • 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 PMID: 32720677 PMCID: PMC7530528 SCOPUS ID: 2-s2.0-85092681312 07/29/2020       14 Citations
  • 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 PMID: 31650526 PMCID: PMC7028510 SCOPUS ID: 2-s2.0-85074852685 10/28/2019       13 Citations
  • De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. (Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV) Am J Hum Genet 2019 Aug 01;105(2):425-433 PMID: 31327510 PMCID: PMC6698968 SCOPUS ID: 2-s2.0-85069863703 07/23/2019       22 Citations
  • Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes. (Reis LM, Semina EV) Hum Genet 2019 Sep;138(8-9):847-863 PMID: 30187164 PMCID: PMC6401332 SCOPUS ID: 2-s2.0-85052934727 09/07/2018       34 Citations
  • 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 PMID: 29506241 PMCID: PMC5932568 SCOPUS ID: 2-s2.0-85046996401 03/06/2018       45 Citations
  • Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. (Weh E, Takeuchi H, Muheisen S, Haltiwanger RS, Semina EV) PLoS One 2017;12(9):e0184903 PMID: 28926587 PMCID: PMC5604996 SCOPUS ID: 2-s2.0-85029781984 09/20/2017       12 Citations
  • 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 PMID: 28911203 PMCID: PMC5886142 SCOPUS ID: 2-s2.0-85040704331 09/16/2017       26 Citations
  • Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. (Hendee K, Wang LW, Reis LM, Rice GM, Apte SS, Semina EV) Hum Mutat 2017 Nov;38(11):1485-1490 PMID: 28722276 PMCID: PMC5638704 SCOPUS ID: 2-s2.0-85026544662 07/20/2017       25 Citations
  • Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. (Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA) Clin Genet 2017 Dec;92(6):639-644 PMID: 28321846 SCOPUS ID: 2-s2.0-85026758336 03/23/2017       31 Citations
  • 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 PMID: 27777502 PMCID: PMC5070572 SCOPUS ID: 2-s2.0-85008178877 10/26/2016       7 Citations
  • Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract. (Happ H, Weh E, Costakos D, Reis LM, Semina EV) BMC Med Genet 2016 Sep 08;17(1):64 PMID: 27609212 PMCID: PMC5016880 SCOPUS ID: 2-s2.0-84986296839 09/10/2016       6 Citations
  • 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 PMID: 27378168 PMCID: PMC5119633 SCOPUS ID: 2-s2.0-84982095337 07/06/2016       17 Citations
  • Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. (Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV) Clin Genet 2016 Oct;90(4):378-82 PMID: 27272408 PMCID: PMC5295561 SCOPUS ID: 2-s2.0-84988526168 06/09/2016       12 Citations
  • Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. (Schilter KF, Reis LM, Sorokina EA, Semina EV) Mol Genet Genomic Med 2015 Nov;3(6):490-9 PMID: 26740941 PMCID: PMC4694134 SCOPUS ID: 2-s2.0-84984822087 01/08/2016       10 Citations
  • Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. (Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV) Hum Mol Genet 2015 Oct 15;24(20):5789-804 PMID: 26231217 SCOPUS ID: 2-s2.0-84943766596 08/02/2015       30 Citations
  • Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. (Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV) Eur J Hum Genet 2016 Apr;24(4):535-41 PMID: 26130484 PMCID: PMC4929874 SCOPUS ID: 2-s2.0-84960370333 07/02/2015       59 Citations
  • EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. (Deml B, Reis LM, Muheisen S, Bick D, Semina EV) Birth Defects Res A Clin Mol Teratol 2015 Jul;103(7):630-40 PMID: 26118977 PMCID: PMC4487781 SCOPUS ID: 2-s2.0-84937643400 06/30/2015       28 Citations
  • Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. (Reis LM, Semina EV) Birth Defects Res C Embryo Today 2015 Jun;105(2):96-113 PMID: 26046913 PMCID: PMC5193115 SCOPUS ID: 2-s2.0-84933179773 06/06/2015       55 Citations
  • Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. (Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV) PLoS Genet 2015;11(2):e1005002 PMID: 25719200 PMCID: PMC4342166 SCOPUS ID: 2-s2.0-84924350614 02/27/2015       47 Citations
  • 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 PMID: 25182519 PMCID: PMC4395516 SCOPUS ID: 2-s2.0-84920418405 09/04/2014       53 Citations
  • Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. (Reis LM, Tyler RC, Semina EV) Mol Vis 2014;20:836-42 PMID: 24940039 PMCID: PMC4057250 SCOPUS ID: 2-s2.0-84902348163 06/19/2014       15 Citations
  • Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. (Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV) Clin Genet 2014 Nov;86(5):475-81 PMID: 24628545 PMCID: PMC4163542 SCOPUS ID: 2-s2.0-84911978460 03/19/2014       39 Citations
  • Lens-specific transcription factors and their roles in diagnosis and treatment of human congenital cataract (Cvekl A, Friedman IB, Semina EV) Lens Epithelium and Posterior Capsular Opacification 1 March 2014:105-130 SCOPUS ID: 2-s2.0-84930720826 03/01/2014    
  • 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 PMID: 24555714 PMCID: PMC3937428 SCOPUS ID: 2-s2.0-84896702751 02/22/2014       28 Citations
  • Lens extrusion from Laminin alpha 1 mutant zebrafish. (Pathania M, Semina EV, Duncan MK) ScientificWorldJournal 2014;2014:524929 PMID: 24526906 PMCID: PMC3914655 SCOPUS ID: 2-s2.0-84893841071 02/15/2014       13 Citations
  • A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1. (Reis LM, Tyler RC, Zori R, Burgess J, Mueller J, Semina EV) Ophthalmic Genet 2015 Mar;36(1):92-4 PMID: 24024747 PMCID: PMC4092044 SCOPUS ID: 2-s2.0-84922924329 09/13/2013       4 Citations
  • 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 PMID: 23975681 PMCID: PMC3857954 SCOPUS ID: 2-s2.0-84890369688 08/27/2013       22 Citations
  • Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. (Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV) Clin Genet 2014 Aug;86(2):142-8 PMID: 23889335 PMCID: PMC4103962 SCOPUS ID: 2-s2.0-84904703878 07/31/2013       37 Citations
  • Whole-genome copy number variation analysis in anophthalmia and microphthalmia. (Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV) Clin Genet 2013 Nov;84(5):473-81 PMID: 23701296 PMCID: PMC3985344 SCOPUS ID: 2-s2.0-84885863395 05/25/2013       40 Citations
  • Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. (Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV) Hum Genet 2013 Jul;132(7):761-70 PMID: 23508780 PMCID: PMC3683360 SCOPUS ID: 2-s2.0-84879499591 03/20/2013       75 Citations
  • 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 PMID: 22815627 PMCID: PMC3398501 SCOPUS ID: 2-s2.0-84864305831 07/21/2012       12 Citations
  • 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 PMID: 22569110 PMCID: PMC3499749 SCOPUS ID: 2-s2.0-84869223456 05/10/2012       113 Citations
  • pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish. (Liu Y, Semina EV) PLoS One 2012;7(1):e30896 PMID: 22303467 PMCID: PMC3267762 SCOPUS ID: 2-s2.0-84856386051 02/04/2012       29 Citations
  • Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia (Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV) American Journal of Medical Genetics, Part A January 2012;158 A(1):267 SCOPUS ID: 2-s2.0-84255195429 01/01/2012    
  • VSX2 mutations in autosomal recessive microphthalmia. (Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV) Mol Vis 2011;17:2527-32 PMID: 21976963 PMCID: PMC3185030 SCOPUS ID: 2-s2.0-83055174002 10/07/2011       27 Citations
  • PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3. (Strungaru MH, Footz T, Liu Y, Berry FB, Belleau P, Semina EV, Raymond V, Walter MA) Invest Ophthalmol Vis Sci 2011 Sep 29;52(10):7625-33 PMID: 21873665 PMCID: PMC3183983 SCOPUS ID: 2-s2.0-84863833810 08/30/2011       25 Citations
  • Genetics of anterior segment dysgenesis disorders. (Reis LM, Semina EV) Curr Opin Ophthalmol 2011 Sep;22(5):314-24 PMID: 21730847 PMCID: PMC3558283 SCOPUS ID: 2-s2.0-80051790236 07/07/2011       115 Citations
  • MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens. (Sorokina EA, Muheisen S, Mlodik N, Semina EV) PLoS One 2011;6(6):e21122 PMID: 21698120 PMCID: PMC3117865 SCOPUS ID: 2-s2.0-79959200303 06/24/2011       23 Citations
  • BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. (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) Hum Genet 2011 Oct;130(4):495-504 PMID: 21340693 PMCID: PMC3178759 SCOPUS ID: 2-s2.0-80054867601 02/23/2011       91 Citations
  • 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 PMID: 20881290 PMCID: PMC3101680 SCOPUS ID: 2-s2.0-79955934874 10/01/2010       41 Citations
  • Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. (Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV) Mol Vis 2010 Aug 22;16:1705-11 PMID: 20806047 PMCID: PMC2927439 SCOPUS ID: 2-s2.0-77956969736 09/02/2010       46 Citations
  • OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. (Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV) Clin Genet 2011 Feb;79(2):158-68 PMID: 20486942 PMCID: PMC3017659 SCOPUS ID: 2-s2.0-78650917524 05/22/2010       83 Citations
  • Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV) Mol Vis 2010 Apr 28;16:768-73 PMID: 20454695 PMCID: PMC2862242 SCOPUS ID: 2-s2.0-77955597653 05/11/2010       20 Citations
  • FOXE3 plays a significant role in autosomal recessive microphthalmia. (Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV) Am J Med Genet A 2010 Mar;152A(3):582-90 PMID: 20140963 PMCID: PMC2998041 SCOPUS ID: 2-s2.0-77649219694 02/09/2010       50 Citations
  • Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. (Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV) Am J Med Genet A 2009 Dec;149A(12):2706-15 PMID: 19921648 PMCID: PMC2787970 SCOPUS ID: 2-s2.0-71949107898 11/19/2009       92 Citations
  • Mutation analysis of B3GALTL in Peters Plus syndrome. (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) Am J Med Genet A 2008 Oct 15;146A(20):2603-10 PMID: 18798333 PMCID: PMC2755183 SCOPUS ID: 2-s2.0-55549109436 09/18/2008       47 Citations
  • 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 PMID: 17888164 PMCID: PMC2093940 SCOPUS ID: 2-s2.0-36348932775 09/25/2007       31 Citations
  • 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 PMID: 16973147 SCOPUS ID: 2-s2.0-33749507648 09/16/2006       59 Citations
  • Application of genetic approaches to ocular disease. (Ruttum MS, Reis LM, Semina EV) Pediatr Clin North Am 2006 Aug;53(4):751-65 PMID: 16873003 SCOPUS ID: 2-s2.0-33746228239 07/29/2006       1 Citation
  • Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. (Maciolek NL, Alward WL, Murray JC, Semina EV, McNally MT) BMC Med Genet 2006 Jul 11;7:59 PMID: 16834779 PMCID: PMC1553432 SCOPUS ID: 2-s2.0-33748048489 07/13/2006       22 Citations
  • laminin alpha 1 gene is essential for normal lens development in zebrafish. (Zinkevich NS, Bosenko DV, Link BA, Semina EV) BMC Dev Biol 2006 Mar 07;6:13 PMID: 16522196 PMCID: PMC1450269 SCOPUS ID: 2-s2.0-33646367199 03/09/2006       40 Citations
  • An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. (Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF) Birth Defects Res A Clin Mol Teratol 2006 Mar;76(3):175-81 PMID: 16498627 PMCID: PMC4023635 SCOPUS ID: 2-s2.0-33645512300 02/25/2006       25 Citations
  • Current molecular understanding of Axenfeld-Rieger syndrome. (Hjalt TA, Semina EV) Expert Rev Mol Med 2005 Nov 08;7(25):1-17 PMID: 16274491 SCOPUS ID: 2-s2.0-31044445987 11/09/2005       80 Citations
  • Zebrafish pitx3 is necessary for normal lens and retinal development. (Shi X, Bosenko DV, Zinkevich NS, Foley S, Hyde DR, Semina EV, Vihtelic TS) Mech Dev 2005 Apr;122(4):513-27 PMID: 15804565 SCOPUS ID: 2-s2.0-15944427842 04/05/2005       62 Citations
  • Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein. (Espinoza HM, Ganga M, Vadlamudi U, Martin DM, Brooks BP, Semina EV, Murray JC, Amendt BA) Biochemistry 2005 Mar 15;44(10):3942-54 PMID: 15751970 SCOPUS ID: 2-s2.0-14844345671 03/09/2005       26 Citations
  • VSX1 mutation and corneal dystrophies [4] (multiple letters) (Aldave AJ, Mintz-Hittner H, Semina E) Ophthalmology January 2005;112(1):170-171 SCOPUS ID: 2-s2.0-11344258433 01/01/2005       1 Citation
  • Using zebrafish to study the complex genetics of glaucoma. (McMahon C, Semina EV, Link BA) Comp Biochem Physiol C Toxicol Pharmacol 2004 Jul;138(3):343-50 PMID: 15533792 SCOPUS ID: 2-s2.0-7944231499 11/10/2004       52 Citations
  • Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. (Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC) Am J Med Genet A 2004 Oct 15;130A(3):277-83 PMID: 15378534 SCOPUS ID: 2-s2.0-4744372136 09/21/2004       20 Citations
  • 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 PMID: 15255117 SCOPUS ID: 2-s2.0-1942422639 07/17/2004       26 Citations
  • VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. (Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC) Ophthalmology 2004 Apr;111(4):828-36 PMID: 15051220 SCOPUS ID: 2-s2.0-1842475539 03/31/2004       43 Citations
  • Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons. (Zhao S, Maxwell S, Jimenez-Beristain A, Vives J, Kuehner E, Zhao J, O'Brien C, de Felipe C, Semina E, Li M) Eur J Neurosci 2004 Mar;19(5):1133-40 PMID: 15016072 SCOPUS ID: 2-s2.0-12144286982 03/16/2004       150 Citations
  • Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. (Trembath DG, Semina EV, Jones DH, Patil SR, Qian Q, Amendt BA, Russo AF, Murray JC) Birth Defects Res A Clin Mol Teratol 2004 Feb;70(2):82-91 PMID: 14991915 SCOPUS ID: 2-s2.0-1542366422 03/03/2004       21 Citations
  • Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice. (Hwang DY, Ardayfio P, Kang UJ, Semina EV, Kim KS) Brain Res Mol Brain Res 2003 Jun 10;114(2):123-31 PMID: 12829322 SCOPUS ID: 2-s2.0-0037786542 06/28/2003       213 Citations
  • Genetic loci for pathological myopia are not associated with juvenile myopia. (Mutti DO, Semina E, Marazita M, Cooper M, Murray JC, Zadnik K) Am J Med Genet 2002 Nov 01;112(4):355-60 PMID: 12376937 SCOPUS ID: 2-s2.0-0036837879 10/12/2002       47 Citations
  • Exclusion of PITX2 mutations as a major cause of CHARGE association. (Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA) Am J Med Genet 2002 Jul 22;111(1):27-30 PMID: 12124729 SCOPUS ID: 2-s2.0-4243288689 07/19/2002       19 Citations
  • VSX1: a gene for posterior polymorphous dystrophy and keratoconus. (Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM) Hum Mol Genet 2002 May 01;11(9):1029-36 PMID: 11978762 SCOPUS ID: 2-s2.0-0036566556 04/30/2002       246 Citations
  • Differential regulation of gene expression by PITX2 isoforms. (Cox CJ, Espinoza HM, McWilliams B, Chappell K, Morton L, Hjalt TA, Semina EV, Amendt BA) J Biol Chem 2002 Jul 12;277(28):25001-10 PMID: 11948188 SCOPUS ID: 2-s2.0-0037067729 04/12/2002       139 Citations
  • A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. (Espinoza HM, Cox CJ, Semina EV, Amendt BA) Hum Mol Genet 2002 Apr 01;11(7):743-53 PMID: 11929847 SCOPUS ID: 2-s2.0-0036537858 04/04/2002       57 Citations
  • Identification of a dominant negative homeodomain mutation in Rieger syndrome. (Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF) J Biol Chem 2001 Jun 22;276(25):23034-41 PMID: 11301317 SCOPUS ID: 2-s2.0-0035933856 04/13/2001       76 Citations
  • Rieger syndrome: a clinical, molecular, and biochemical analysis. (Amendt BA, Semina EV, Alward WL) Cell Mol Life Sci 2000 Oct;57(11):1652-66 PMID: 11092457 SCOPUS ID: 2-s2.0-0033793783 11/25/2000       100 Citations
  • Erratum: Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome (American Journal of Medical Genetics (2000) 91 (387-390)) (Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJR, Rosenbaum K, Weaver DD, Murray JC) American Journal of Medical Genetics 17 July 2000;93(2):169 SCOPUS ID: 2-s2.0-0034679889 07/17/2000       1 Citation
  • Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. (Semina EV, Murray JC, Reiter R, Hrstka RF, Graw J) Hum Mol Genet 2000 Jul 01;9(11):1575-85 PMID: 10861284 SCOPUS ID: 2-s2.0-0034234546 06/22/2000       162 Citations
  • The Pitx2 protein in mouse development. (Hjalt TA, Semina EV, Amendt BA, Murray JC) Dev Dyn 2000 May;218(1):195-200 PMID: 10822271 SCOPUS ID: 2-s2.0-0034019869 05/24/2000       121 Citations
  • Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. (Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJ, Rosenbaum K, Weaver DD, Murray JC) Am J Med Genet 2000 Apr 24;91(5):387-90 PMID: 10767004 SCOPUS ID: 2-s2.0-0034709125 04/15/2000       21 Citations
  • Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. (Semina EV, Mintz-Hittner HA, Murray JC) Genomics 2000 Jan 15;63(2):289-93 PMID: 10673340 SCOPUS ID: 2-s2.0-0034007794 02/16/2000       75 Citations
  • Antagonistic signals between BMP4 and FGF8 define the expression of Pitx1 and Pitx2 in mouse tooth-forming anlage. (St Amand TR, Zhang Y, Semina EV, Zhao X, Hu Y, Nguyen L, Murray JC, Chen Y) Dev Biol 2000 Jan 15;217(2):323-32 PMID: 10625557 SCOPUS ID: 2-s2.0-0034650899 01/08/2000       175 Citations
  • Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI. (Semina EV, Altherr MR, Murray JC) Mamm Genome 1998 Nov;9(11):921-4 PMID: 9799849 SCOPUS ID: 2-s2.0-0031766458 11/04/1998       10 Citations
  • Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. (el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J) Eur J Hum Genet 1998;6(3):251-6 PMID: 9781029 SCOPUS ID: 2-s2.0-0031818446 10/22/1998       18 Citations
  • Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. (Yoshioka H, Meno C, Koshiba K, Sugihara M, Itoh H, Ishimaru Y, Inoue T, Ohuchi H, Semina EV, Murray JC, Hamada H, Noji S) Cell 1998 Aug 07;94(3):299-305 PMID: 9708732 SCOPUS ID: 2-s2.0-0032493866 08/26/1998       330 Citations
  • The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. (Amendt BA, Sutherland LB, Semina EV, Russo AF) J Biol Chem 1998 Aug 07;273(32):20066-72 PMID: 9685346 SCOPUS ID: 2-s2.0-0032493822 08/01/1998       121 Citations
  • Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. (Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JL, Murray JC) Am J Hum Genet 1998 Aug;63(2):557-68 PMID: 9683588 PMCID: PMC1377298 SCOPUS ID: 2-s2.0-0032231873 07/31/1998       256 Citations
  • 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 PMID: 9620774 SCOPUS ID: 2-s2.0-0031811116 06/10/1998       338 Citations
  • Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. (Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA) Hum Mol Genet 1998 Jul;7(7):1113-7 PMID: 9618168 SCOPUS ID: 2-s2.0-0031802075 06/09/1998       115 Citations
  • A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse. (Semina EV, Reiter RS, Murray JC) Hum Mol Genet 1998 Mar;7(3):415-22 PMID: 9466998 SCOPUS ID: 2-s2.0-0031935317 04/18/1998       47 Citations
  • Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC) Am J Ophthalmol 1998 Jan;125(1):98-100 PMID: 9437321 SCOPUS ID: 2-s2.0-0031984554 01/23/1998       126 Citations
  • Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. (Semina EV, Reiter RS, Murray JC) Hum Mol Genet 1997 Nov;6(12):2109-16 PMID: 9328475 SCOPUS ID: 2-s2.0-0030669179 11/05/1997       170 Citations
  • Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. (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) Am J Hum Genet 1996 Dec;59(6):1288-96 PMID: 8940274 PMCID: PMC1914874 SCOPUS ID: 2-s2.0-19244364500 12/01/1996       21 Citations
  • Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. (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) Nat Genet 1996 Dec;14(4):392-9 PMID: 8944018 SCOPUS ID: 2-s2.0-10544233785 12/01/1996       790 Citations
  • Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. (Datson NA, Semina E, van Staalduinen AA, Dauwerse HG, Meershoek EJ, Heus JJ, Frants RR, den Dunnen JT, Murray JC, van Ommen GJ) Am J Hum Genet 1996 Dec;59(6):1297-305 PMID: 8940275 PMCID: PMC1914859 SCOPUS ID: 2-s2.0-19244364120 12/01/1996       23 Citations
    • Last update: 03/28/2024