Faculty Collaboration Database

1. 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.

2. 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. PMCID: PMC1914874

3. Semina EV, Reiter RS, Murray JC. 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. Hum Mol Genet. 1997 Nov;6(12):2109-16.

4. Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 1998 Jan;125(1):98-100.

5. Semina EV, Reiter RS, Murray JC. A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse. Hum Mol Genet. 1998 Mar;7(3):415-22.

6. Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 1998 Jul;7(7):1113-7.

7. 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.

8. 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. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet. 1998 Aug;63(2):557-68. PMCID: PMC1377298

9. Amendt BA, Sutherland LB, Semina EV, Russo AF. The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. J Biol Chem. 1998 Aug 07;273(32):20066-72.

10. Yoshioka H, Meno C, Koshiba K, Sugihara M, Itoh H, Ishimaru Y, Inoue T, Ohuchi H, Semina EV, Murray JC, Hamada H, Noji S. Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. Cell. 1998 Aug 07;94(3):299-305.

11. el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J. Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. Eur J Hum Genet. 1998;6(3):251-6.

12. Semina EV, Altherr MR, Murray JC. Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI. Mamm Genome. 1998 Nov;9(11):921-4.

13. St Amand TR, Zhang Y, Semina EV, Zhao X, Hu Y, Nguyen L, Murray JC, Chen Y. Antagonistic signals between BMP4 and FGF8 define the expression of Pitx1 and Pitx2 in mouse tooth-forming anlage. Dev Biol. 2000 Jan 15;217(2):323-32.

14. Semina EV, Mintz-Hittner HA, Murray JC. Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics. 2000 Jan 15;63(2):289-93.

15. Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJ, Rosenbaum K, Weaver DD, Murray JC. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet. 2000 Apr 24;91(5):387-90.

16. Hjalt TA, Semina EV, Amendt BA, Murray JC. The Pitx2 protein in mouse development. Dev Dyn. 2000 May;218(1):195-200.

17. Semina EV, Murray JC, Reiter R, Hrstka RF, Graw J. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet. 2000 Jul 01;9(11):1575-85.

18. Amendt BA, Semina EV, Alward WL. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci. 2000 Oct;57(11):1652-66. PMCID: PMC11146825

19. Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem. 2001 Jun 22;276(25):23034-41.

20. Espinoza HM, Cox CJ, Semina EV, Amendt BA. A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum Mol Genet. 2002 Apr 01;11(7):743-53.

21. Cox CJ, Espinoza HM, McWilliams B, Chappell K, Morton L, Hjalt TA, Semina EV, Amendt BA. Differential regulation of gene expression by PITX2 isoforms. J Biol Chem. 2002 Jul 12;277(28):25001-10.

22. Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA. Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002 Jul 22;111(1):27-30.

23. Hwang DY, Ardayfio P, Kang UJ, Semina EV, Kim KS. Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice. Brain Res Mol Brain Res. 2003 Jun 10;114(2):123-31.

24. Trembath DG, Semina EV, Jones DH, Patil SR, Qian Q, Amendt BA, Russo AF, Murray JC. Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. Birth Defects Res A Clin Mol Teratol. 2004 Feb;70(2):82-91.

25. Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology. 2004 Apr;111(4):828-36.

26. Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE. A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. Ophthalmic Genet. 2004 Mar;25(1):57-62.

27. Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC. Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. Am J Med Genet A. 2004 Oct 15;130A(3):277-83.

28. 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.

29. Espinoza HM, Ganga M, Vadlamudi U, Martin DM, Brooks BP, Semina EV, Murray JC, Amendt BA. Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein. Biochemistry. 2005 Mar 15;44(10):3942-54.

30. 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.

31. Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005 Nov 08;7(25):1-17.

32. 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 07;6:13. PMCID: PMC1450269

33. Maciolek NL, Alward WL, Murray JC, Semina EV, McNally MT. Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. BMC Med Genet. 2006 Jul 11;7:59. PMCID: PMC1553432

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

35. 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 01;299(1):63-77.

36. 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. PMCID: PMC2093940

37. 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. PMCID: PMC2755183

38. 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. PMCID: PMC2787970

39. 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. PMCID: PMC2998041

40. 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. PMCID: PMC2862242

41. 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. PMCID: PMC3017659

42. 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. PMCID: PMC2927439

43. 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;52(3):1450-9. PMCID: PMC3101680

44. 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. PMCID: PMC3178759

45. 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. PMCID: PMC3117865

46. Reis LM, Semina EV. Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol. 2011 Sep;22(5):314-24. PMCID: PMC3558283

47. Strungaru MH, Footz T, Liu Y, Berry FB, Belleau P, Semina EV, Raymond V, Walter MA. PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3. Invest Ophthalmol Vis Sci. 2011 Sep 29;52(10):7625-33. PMCID: PMC3183983

48. Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV. VSX2 mutations in autosomal recessive microphthalmia. Mol Vis. 2011;17:2527-32. PMCID: PMC3185030

49. 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. Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. Hum Mol Genet. 2021 Aug 12;30(17):1591-1606. PMCID: PMC8369840

50. Seese SE, Reis LM, Deml B, Griffith C, Reich A, Jamieson RV, Semina EV. Identification of missense MAB21L1 variants in microphthalmia and aniridia. Hum Mutat. 2021 Jul;42(7):877-890. PMCID: PMC8238893

51. Seese SE, Deml B, Muheisen S, Sorokina E, Semina EV. Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways. Dev Dyn. 2021 Aug;250(8):1056-1073. PMCID: PMC8349561

52. Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study American Journal of Medical Genetics, Part A. 2021.

53. Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, University of Washington Center for Mendelian Genomics, Semina EV. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clin Genet. 2021 Mar;99(3):437-442. PMCID: PMC8259391

54. Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV. Compound heterozygous splicing CDON variants result in isolated ocular coloboma. Clin Genet. 2020 Nov;98(5):486-492. PMCID: PMC8341436

55. Ferre-Fernández JJ, Sorokina EA, Thompson S, Collery RF, Nordquist E, Lincoln J, Semina EV. Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome. Hum Mol Genet. 2020 Sep 29;29(16):2723-2735. PMCID: PMC7530528

56. Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF Jr, Semina EV. Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. Clin Genet. 2020 Mar;97(3):502-508. PMCID: PMC7028510

57. Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D, Ellingson MS, Hasadsri L, van Bever Y, Semina EV. WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. Hum Genet. 2021 Dec;140(12):1775-1789. PMCID: PMC9241141

58. Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study. Am J Med Genet A. 2022 Jan;188(1):187-198. PMCID: PMC9169870

59. Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. Am J Hum Genet. 2019 Aug 01;105(2):425-433. PMCID: PMC6698968

60. Reis LM, Semina EV. Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes. Hum Genet. 2019 Sep;138(8-9):847-863. PMCID: PMC6401332

61. Hendee KE, Sorokina EA, Muheisen SS, Reis LM, Tyler RC, Markovic V, Cuturilo G, Link BA, Semina EV. PITX2 deficiency and associated human disease: insights from the zebrafish model. Hum Mol Genet. 2018 May 15;27(10):1675-1695. PMCID: PMC5932568

62. Weh E, Takeuchi H, Muheisen S, Haltiwanger RS, Semina EV. Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. PLoS One. 2017;12(9):e0184903. PMCID: PMC5604996

63. Hendee K, Wang LW, Reis LM, Rice GM, Apte SS, Semina EV. 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. Hum Mutat. 2017 Nov;38(11):1485-1490. PMCID: PMC5638704

64. Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB. Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Hum Mol Genet. 2017 Sep 15;26(18):3630-3638. PMCID: PMC5886142

65. Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. Clin Genet. 2017 Dec;92(6):639-644.

66. 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. Analysis of <i>CYP1B1</i> in pediatric and adult glaucoma and other ocular phenotypes. Mol Vis. 2016;22:1229-1238. PMCID: PMC5070572

67. Happ H, Weh E, Costakos D, Reis LM, Semina EV. 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. BMC Med Genet. 2016 Sep 08;17(1):64. PMCID: PMC5016880

68. Happ H, Schilter KF, Weh E, Reis LM, Semina EV. 8q21.11 microdeletion in two patients with syndromic peters anomaly. Am J Med Genet A. 2016 Sep;170(9):2471-5. PMCID: PMC5119633

69. Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV. Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clin Genet. 2016 Oct;90(4):378-82. PMCID: PMC5295561

70. Schilter KF, Reis LM, Sorokina EA, Semina EV. Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Mol Genet Genomic Med. 2015 Nov;3(6):490-9. PMCID: PMC4694134

71. 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. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Hum Mol Genet. 2015 Oct 15;24(20):5789-804.

72. 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 Apr;24(4):535-41. PMCID: PMC4929874

73. 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. PMCID: PMC4487781

74. Datson NA, Semina E, van Staalduinen AA, Dauwerse HG, Meershoek EJ, Heus JJ, Frants RR, den Dunnen JT, Murray JC, van Ommen GJ. Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. Am J Hum Genet. 1996 Dec;59(6):1297-305. PMCID: PMC1914859

75. Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJR, Rosenbaum K, Weaver DD, Murray JC. 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)) American Journal of Medical Genetics. 17 July 2000;93(2):169.

76. 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. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002 May 01;11(9):1029-36.

77. Mutti DO, Semina E, Marazita M, Cooper M, Murray JC, Zadnik K. Genetic loci for pathological myopia are not associated with juvenile myopia. Am J Med Genet. 2002 Nov 01;112(4):355-60.

78. Zhao S, Maxwell S, Jimenez-Beristain A, Vives J, Kuehner E, Zhao J, O'Brien C, de Felipe C, Semina E, Li M. Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons. Eur J Neurosci. 2004 Mar;19(5):1133-40.

79. Aldave AJ, Mintz-Hittner H, Semina E. VSX1 mutation and corneal dystrophies [4] (multiple letters) Ophthalmology. January 2005;112(1):170-171.

80. Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF. An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):175-81. PMCID: PMC4023635

81. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia American Journal of Medical Genetics, Part A. January 2012;158 A(1):267.

82. Liu Y, Semina EV. pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish. PLoS One. 2012;7(1):e30896. PMCID: PMC3267762

83. 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 Dec;20(12):1224-33. PMCID: PMC3499749

84. 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. PMCID: PMC3398501

85. 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 Jul;132(7):761-70. PMCID: PMC3683360

86. 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 Nov;84(5):473-81. PMCID: PMC3985344

87. 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. 2014 Aug;86(2):142-8. PMCID: PMC4103962

88. 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 01;23(1):194-208. PMCID: PMC3857954

89. 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. PMCID: PMC4092044

90. Pathania M, Semina EV, Duncan MK. Lens extrusion from Laminin alpha 1 mutant zebrafish. ScientificWorldJournal. 2014;2014:524929. PMCID: PMC3914655

91. 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 Feb 20;9:26. PMCID: PMC3937428

92. Cvekl A, Friedman IB, Semina EV. Lens-specific transcription factors and their roles in diagnosis and treatment of human congenital cataract Lens Epithelium and Posterior Capsular Opacification. 1 March 2014:105-130.

93. 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 Nov;86(5):475-81. PMCID: PMC4163542

94. 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. PMCID: PMC4057250

95. 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 Dec;133(12):1497-511. PMCID: PMC4395516

96. Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV. Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. PLoS Genet. 2015;11(2):e1005002. PMCID: PMC4342166

97. 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. PMCID: PMC5193115

98. Barysheva (Semina) EV, Prosniak MI, Vlasov MS, Golubtsov VI, Revazov AA, Limborskaia SA, Ginter EK. (1989) The use of DNA from phage M13 for the analysis of interindividual polymorphism of human DNA as demonstrated by a population study in Krasnodar city. Genetika 25(11): 2079-82.

99. Barysheva (Semina) EV, Bukina A.M., Petrova N.V., Ginter E.K. (1991) Population structure of Russian populations of Viatka region: comparison of traditional methods with DNA “fingerprint” analysis. Genetika V.27(3): 399-403.

100. Barysheva (Semina) EV, Prosniak M.I., Vlasov M.S., Revasov A.A.,Ginter E.K. (1991) Analysis of genetic distances between populations using human DNA “fingerprints”. Genetika V.27(9): 1493-98.

101. Semina (Barysheva) EV, Bukina A.M., Ginter E.K., Limborska S.A. (1993) Family analysis of human “fingerprints” obtained using M13 phage DNA as a probe. Genetika 29(10): 1612-19.

102. Semina (Barysheva) EV, Bukina A.M., Ginter E.K., Limborska S.A. (1993) Genetic relationship between different ethnic groups in Russia calculated on the basis of the polymorphism of DNA from hypervariable regions. Genetika 29(10): 1608-11

103. Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M (2001) Mutations in the human fork-head transcription factor gene FOXE3 cause anterior segment ocular dysgenesis and cataracts. Human Molecular Genetics 10(3): 231-236

104. Murray JC, Semina EV (2001) Pitx2 gene in development. In From Genotype to Phenotype, Second Edition, published by BIOS Scientific Publishers Ltd

105. Murray JC, Semina EV (2002) Rieger syndrome. In The Guide to Rare Disorders, published by Lippincott, Williams & Wilkins.

106. Semina EV (2003) 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 (first edition). 599-606.

107. Semina EV (2005) 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

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

109. Semina EV (2008) 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, OUP USA Oxford Monographs on Medical Genetics ISBN 978-0-19-530691-0

110. Reis LM and Semina EV (2016) PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurologic Impairment. In Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis, Oxford Monographs on Medical Genetics, third edition, published: 29 July 2016, 1552 pages; ISBN: 9780199934522

111. Kathryn E. Hendee, Elena A. Sorokina, Sanaa S. Muheisen, Ross F. Collery, Elena V. Semina (2019) notum1, acting downstream of pitx2, is essential for proper eye and craniofacial development. bioRxiv; http://biorxiv.org/cgi/content/short/687798v1

112. Eric Weh, Elena Sorokina, Kathryn Hendee, Douglas B. Gould, Elena V. Semina (2019) Deletions of distant regulatory sequences upstream of zebrafish pitx2 result in a range of ocular phenotypes. bioRxiv 772426; doi: https://doi.org/10.1101/772426

113. 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. SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genet Med. 2022 Jun;24(6):1261-1273. PMCID: PMC9245088

114. Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, Semina EV. Novel Genetic Diagnoses in Septo-Optic Dysplasia Genes. July 2022;13(7).

115. 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. Axenfeld-Rieger syndrome: more than meets the eye. J Med Genet. 2023 Apr;60(4):368-379. PMCID: PMC9912354

116. Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV. Novel Genetic Diagnoses in Septo-Optic Dysplasia. Genes (Basel). 2022 Jun 28;13(7). PMCID: PMC9320703

117. Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV. ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. Eur J Hum Genet. 2023 Mar;31(3):363-367. PMCID: PMC9995503

118. 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. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 Dec 01;109(12):2270-2282. PMCID: PMC9748253

119. Ferre-Fernández JJ, Muheisen S, Thompson S, Semina EV. CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements. Hum Genomics. 2022 Oct 25;16(1):49. PMCID: PMC9597995

120. 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. Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches. Prog Retin Eye Res. 2023 Jul;95:101133. PMCID: PMC11062406

121. Seese SE, Muheisen S, Gath N, Gross JM, Semina EV. Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. Dev Dyn. 2023 Apr;252(4):510-526. PMCID: PMC10947772

122. Reis LM, Atilla H, Kannu P, Schneider A, Thompson S, Bardakjian T, Semina EV. Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. Genes (Basel). 2023 Jan 14;14(1). PMCID: PMC9859058

123. 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. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology European Journal of Human Genetics. 2023.

124. 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. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. PMCID: PMC10620399

125. Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV. Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum. Genes (Basel). 2023 Oct 17;14(10). PMCID: PMC10606241

126. Replogle MR, Thompson S, Reis LM, Semina EV. A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element Human Mutation. 2024;2024.

127. 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. Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome American Journal of Medical Genetics, Part A. 2024.

128. 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. Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome. Am J Med Genet A. 2024 May;194(5):e63542. PMCID: PMC11003841

129. Untaroiu A, Reis LM, Higgins BP, Walesa A, Zacharias S, Nikezic D, Costakos DM, Carroll J, Semina EV. In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome. Invest Ophthalmol Vis Sci. 2024 Apr 01;65(4):20. PMCID: PMC11005067

130. Ceroni F, Cicekdal MB, Holt R, Sorokina E, Chassaing N, Clokie S, Naert T, Talbot LV, Muheisen S, Bax DA, Kesim Y, Kivuva EC, Vincent-Delorme C, Lienkamp SS, Plaisancié J, De Baere E, Calvas P, Vleminckx K, Semina EV, Ragge NK. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. Nat Commun. 2024 Oct 26;15(1):9245. PMCID: PMC11511899

131. Reis LM, Zaidman GW, Thompson S, Muheisen S, Glaser T, Semina EV. Further Evidence for a Possible Role for ZHFX4 in Human Ocular Development and Disease. Am J Med Genet A. 2024 Oct 25:e63911.

132. Reis LM, Seese SE, Costakos D, Semina EV. Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms. Prog Retin Eye Res. 2024 Sep;102:101288. PMCID: PMC11392650