| Year |
Citation |
Score |
| 2024 |
Reis LM, Basel D, Bitoun P, Walton DS, Glaser T, Semina EV. Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease. Genes. 15. PMID 39766903 DOI: 10.3390/genes15121636 |
0.357 |
|
| 2024 |
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, ... ... Semina EV, et al. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. Nature Communications. 15: 9245. PMID 39455595 DOI: 10.1038/s41467-024-53553-2 |
0.369 |
|
| 2024 |
Reis LM, Seese SE, Costakos D, Semina EV. Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms. Progress in Retinal and Eye Research. 102: 101288. PMID 39097141 DOI: 10.1016/j.preteyeres.2024.101288 |
0.381 |
|
| 2024 |
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. Investigative Ophthalmology & Visual Science. 65: 20. PMID 38587439 DOI: 10.1167/iovs.65.4.20 |
0.306 |
|
| 2024 |
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, et al. Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome. American Journal of Medical Genetics. Part A. PMID 38234180 DOI: 10.1002/ajmg.a.63542 |
0.365 |
|
| 2023 |
Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV. Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum. Genes. 14. PMID 37895297 DOI: 10.3390/genes14101948 |
0.49 |
|
| 2023 |
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. 14. PMID 36672956 DOI: 10.3390/genes14010216 |
0.381 |
|
| 2022 |
Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV. ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. European Journal of Human Genetics : Ejhg. PMID 36450800 DOI: 10.1038/s41431-022-01246-z |
0.349 |
|
| 2022 |
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, ... ... Semina EV, et al. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. American Journal of Human Genetics. PMID 36368327 DOI: 10.1016/j.ajhg.2022.10.007 |
0.478 |
|
| 2022 |
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. Human Genomics. 16: 49. PMID 36284357 DOI: 10.1186/s40246-022-00423-x |
0.317 |
|
| 2022 |
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, et al. Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches. Progress in Retinal and Eye Research. 101133. PMID 36280537 DOI: 10.1016/j.preteyeres.2022.101133 |
0.326 |
|
| 2022 |
Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, Semina EV. Novel Genetic Diagnoses in Septo-Optic Dysplasia. Genes. 13. PMID 35885948 DOI: 10.3390/genes13071165 |
0.315 |
|
| 2022 |
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, ... ... Semina EV, et al. Axenfeld-Rieger syndrome: more than meets the eye. Journal of Medical Genetics. PMID 35882526 DOI: 10.1136/jmg-2022-108646 |
0.426 |
|
| 2021 |
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. Human Genetics. 140: 1775-1789. PMID 34642815 DOI: 10.1007/s00439-021-02384-y |
0.358 |
|
| 2021 |
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. PMID 34562068 DOI: 10.1002/ajmg.a.62518 |
0.353 |
|
| 2021 |
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, ... ... Semina EV, et al. Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. Human Molecular Genetics. PMID 34046667 DOI: 10.1093/hmg/ddab142 |
0.429 |
|
| 2020 |
Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, Semina EV. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clinical Genetics. PMID 33314030 DOI: 10.1111/cge.13897 |
0.451 |
|
| 2020 |
Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV. Compound heterozygous splicing CDON variants result in isolated ocular coloboma. Clinical Genetics. PMID 32729136 DOI: 10.1111/Cge.13824 |
0.398 |
|
| 2020 |
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. Human Molecular Genetics. PMID 32720677 DOI: 10.1093/Hmg/Ddaa163 |
0.564 |
|
| 2019 |
Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF, Semina EV. Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. Clinical Genetics. PMID 31650526 DOI: 10.1111/Cge.13660 |
0.504 |
|
| 2019 |
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. American Journal of Human Genetics. PMID 31327510 DOI: 10.1016/J.Ajhg.2019.06.015 |
0.526 |
|
| 2019 |
Semina E. De novo missense variants in WDR37 cause a severe ocular syndrome Acta Ophthalmologica. 97. DOI: 10.1111/j.1755-3768.2019.8024 |
0.425 |
|
| 2018 |
Reis LM, Semina EV. Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes. Human Genetics. PMID 30187164 DOI: 10.1007/S00439-018-1932-X |
0.523 |
|
| 2018 |
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. Human Molecular Genetics. PMID 29506241 DOI: 10.1093/Hmg/Ddy074 |
0.563 |
|
| 2017 |
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. 12: e0184903. PMID 28926587 DOI: 10.1371/Journal.Pone.0184903 |
0.496 |
|
| 2017 |
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. Human Molecular Genetics. 26: 3630-3638. PMID 28911203 DOI: 10.1093/Hmg/Ddx251 |
0.586 |
|
| 2017 |
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. Human Mutation. PMID 28722276 DOI: 10.1002/Humu.23299 |
0.557 |
|
| 2017 |
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. Clinical Genetics. PMID 28321846 DOI: 10.1111/Cge.13019 |
0.647 |
|
| 2017 |
Semina E, Sorokina E, Muheisen S, Hendee K, Weh E, Reis L. Genes and regulation of eye development Acta Ophthalmologica. 95. DOI: 10.1111/J.1755-3768.2017.01164 |
0.31 |
|
| 2016 |
Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, McCarty CA, Kitchner TE, Costakos D, Semina EV. Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Molecular Vision. 22: 1229-1238. PMID 27777502 |
0.405 |
|
| 2016 |
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 Medical Genetics. 17: 64. PMID 27609212 DOI: 10.1186/S12881-016-0316-0 |
0.433 |
|
| 2016 |
Happ H, Schilter KF, Weh E, Reis LM, Semina EV. 8q21.11 microdeletion in two patients with syndromic peters anomaly. American Journal of Medical Genetics. Part A. PMID 27378168 DOI: 10.1002/Ajmg.A.37840 |
0.8 |
|
| 2016 |
Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips Iii JA, Sequeira S, Schinzel A, Semina EV. Whole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomalies. Clinical Genetics. PMID 27272408 DOI: 10.1111/Cge.12816 |
0.776 |
|
| 2015 |
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. Molecular Genetics & Genomic Medicine. 3: 490-9. PMID 26740941 DOI: 10.1002/Mgg3.159 |
0.782 |
|
| 2015 |
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, ... ... Semina E, et al. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human Molecular Genetics. PMID 26231217 DOI: 10.1093/Hmg/Ddv298 |
0.495 |
|
| 2015 |
Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. European Journal of Human Genetics : Ejhg. PMID 26130484 DOI: 10.1038/Ejhg.2015.155 |
0.526 |
|
| 2015 |
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 Research. Part a, Clinical and Molecular Teratology. 103: 630-40. PMID 26118977 DOI: 10.1002/Bdra.23397 |
0.517 |
|
| 2015 |
Reis LM, Semina EV. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Research. Part C, Embryo Today : Reviews. 105: 96-113. PMID 26046913 DOI: 10.1002/Bdrc.21097 |
0.413 |
|
| 2015 |
Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV. Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. Plos Genetics. 11: e1005002. PMID 25719200 DOI: 10.1371/Journal.Pgen.1005002 |
0.55 |
|
| 2015 |
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 Genetics. 36: 92-4. PMID 24024747 DOI: 10.3109/13816810.2013.835432 |
0.524 |
|
| 2014 |
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. Human Genetics. 133: 1497-511. PMID 25182519 DOI: 10.1007/S00439-014-1481-X |
0.587 |
|
| 2014 |
Reis LM, Tyler RC, Semina EV. Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. Molecular Vision. 20: 836-42. PMID 24940039 |
0.478 |
|
| 2014 |
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 Clinical Genetics. 86: 475-481. PMID 24628545 DOI: 10.1111/Cge.12379 |
0.572 |
|
| 2014 |
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 Journal of Rare Diseases. 9: 26. PMID 24555714 DOI: 10.1186/1750-1172-9-26 |
0.526 |
|
| 2014 |
Pathania M, Semina EV, Duncan MK. Lens extrusion from Laminin alpha 1 mutant zebrafish. Thescientificworldjournal. 2014: 524929. PMID 24526906 DOI: 10.1155/2014/524929 |
0.383 |
|
| 2014 |
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. Human Molecular Genetics. 23: 194-208. PMID 23975681 DOI: 10.1093/Hmg/Ddt411 |
0.561 |
|
| 2014 |
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. Clinical Genetics. 86: 142-8. PMID 23889335 DOI: 10.1111/Cge.12241 |
0.604 |
|
| 2013 |
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. Clinical Genetics. 84: 473-81. PMID 23701296 DOI: 10.1111/Cge.12202 |
0.806 |
|
| 2013 |
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. Human Genetics. 132: 761-70. PMID 23508780 DOI: 10.1007/S00439-013-1289-0 |
0.579 |
|
| 2012 |
Kloss BAV, Reis LM, Brémond-Gignac D, Glaser T, Semina EV. Analysis of FOXD3 sequence variation in human ocular disease Molecular Vision. 18: 1740-1749. PMID 22815627 |
0.391 |
|
| 2012 |
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. European Journal of Human Genetics : Ejhg. 20: 1224-33. PMID 22569110 DOI: 10.1038/Ejhg.2012.80 |
0.634 |
|
| 2012 |
Liu Y, Semina EV. pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish. Plos One. 7: e30896. PMID 22303467 DOI: 10.1371/Journal.Pone.0030896 |
0.522 |
|
| 2012 |
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. 158: 267. DOI: 10.1002/Ajmg.A.34312 |
0.484 |
|
| 2011 |
Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV. VSX2 mutations in autosomal recessive microphthalmia. Molecular Vision. 17: 2527-32. PMID 21976963 |
0.497 |
|
| 2011 |
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. Investigative Ophthalmology & Visual Science. 52: 7625-33. PMID 21873665 DOI: 10.1167/Iovs.10-6967 |
0.47 |
|
| 2011 |
Reis LM, Semina EV. Genetics of anterior segment dysgenesis disorders. Current Opinion in Ophthalmology. 22: 314-24. PMID 21730847 DOI: 10.1097/Icu.0B013E328349412B |
0.522 |
|
| 2011 |
Sorokina EA, Muheisen S, Mlodik N, Semina EV. MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens. Plos One. 6: e21122. PMID 21698120 DOI: 10.1371/Journal.Pone.0021122 |
0.457 |
|
| 2011 |
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. Human Genetics. 130: 495-504. PMID 21340693 DOI: 10.1007/S00439-011-0968-Y |
0.814 |
|
| 2011 |
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. Investigative Ophthalmology & Visual Science. 52: 1450-9. PMID 20881290 DOI: 10.1167/Iovs.10-6060 |
0.779 |
|
| 2011 |
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. Clinical Genetics. 79: 158-68. PMID 20486942 DOI: 10.1111/J.1399-0004.2010.01450.X |
0.811 |
|
| 2011 |
Weh E, Mlodik N, Meheisen S, Semina E. Characterization of zebrafish orthologues of the human B3GALTL gene involved in Peters-Plus syndrome Developmental Biology. 356: 225. DOI: 10.1016/J.Ydbio.2011.05.372 |
0.459 |
|
| 2010 |
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. Molecular Vision. 16: 1705-11. PMID 20806047 |
0.553 |
|
| 2010 |
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. Molecular Vision. 16: 768-73. PMID 20454695 |
0.505 |
|
| 2010 |
Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. FOXE3 plays a significant role in autosomal recessive microphthalmia. American Journal of Medical Genetics. Part A. 152: 582-90. PMID 20140963 DOI: 10.1002/Ajmg.A.33257 |
0.595 |
|
| 2009 |
Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. American Journal of Medical Genetics. Part A. 149: 2706-15. PMID 19921648 DOI: 10.1002/Ajmg.A.33098 |
0.612 |
|
| 2008 |
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. American Journal of Medical Genetics. Part A. 146: 2603-10. PMID 18798333 DOI: 10.1002/Ajmg.A.32498 |
0.644 |
|
| 2007 |
Sakazume S, Sorokina E, Iwamoto Y, Semina EV. Functional analysis of human mutations in homeodomain transcription factor PITX3. Bmc Molecular Biology. 8: 84. PMID 17888164 DOI: 10.1186/1471-2199-8-84 |
0.547 |
|
| 2006 |
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. Developmental Biology. 299: 63-77. PMID 16973147 DOI: 10.1016/J.Ydbio.2006.07.005 |
0.493 |
|
| 2006 |
Ruttum MS, Reis LM, Semina EV. Application of genetic approaches to ocular disease. Pediatric Clinics of North America. 53: 751-65. PMID 16873003 DOI: 10.1016/J.Pcl.2006.05.010 |
0.338 |
|
| 2006 |
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 Medical Genetics. 7: 59. PMID 16834779 DOI: 10.1186/1471-2350-7-59 |
0.575 |
|
| 2006 |
Zinkevich NS, Bosenko DV, Link BA, Semina EV. laminin alpha 1 gene is essential for normal lens development in zebrafish. Bmc Developmental Biology. 6: 13. PMID 16522196 DOI: 10.1186/1471-213X-6-13 |
0.35 |
|
| 2006 |
Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF. An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. Birth Defects Research. Part a, Clinical and Molecular Teratology. 76: 175-81. PMID 16498627 DOI: 10.1002/Bdra.20226 |
0.534 |
|
| 2005 |
Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Reviews in Molecular Medicine. 7: 1-17. PMID 16274491 DOI: 10.1017/S1462399405010082 |
0.571 |
|
| 2005 |
Shi X, Bosenko DV, Zinkevich NS, Foley S, Hyde DR, Semina EV, Vihtelic TS. Zebrafish pitx3 is necessary for normal lens and retinal development. Mechanisms of Development. 122: 513-27. PMID 15804565 DOI: 10.1016/J.Mod.2004.11.012 |
0.421 |
|
| 2005 |
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. 44: 3942-54. PMID 15751970 DOI: 10.1021/Bi048362X |
0.397 |
|
| 2004 |
McMahon C, Semina EV, Link BA. Using zebrafish to study the complex genetics of glaucoma. Comparative Biochemistry and Physiology. Toxicology & Pharmacology : Cbp. 138: 343-50. PMID 15533792 DOI: 10.1016/J.Cca.2004.03.003 |
0.366 |
|
| 2004 |
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 American Journal of Medical Genetics. 130: 277-283. PMID 15378534 DOI: 10.1002/Ajmg.A.30329 |
0.636 |
|
| 2004 |
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 Genetics. 25: 57-62. PMID 15255117 DOI: 10.1076/Opge.25.1.57.29002 |
0.525 |
|
| 2004 |
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. 111: 828-36. PMID 15051220 DOI: 10.1016/J.Ophtha.2003.07.006 |
0.505 |
|
| 2004 |
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 Research. Part a, Clinical and Molecular Teratology. 70: 82-91. PMID 14991915 DOI: 10.1002/Bdra.10154 |
0.49 |
|
| 2002 |
Mutti DO, Semina E, Marazita M, Cooper M, Murray JC, Zadnik K. Genetic loci for pathological myopia are not associated with juvenile myopia. American Journal of Medical Genetics. 112: 355-60. PMID 12376937 DOI: 10.1002/Ajmg.10683 |
0.352 |
|
| 2002 |
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. American Journal of Medical Genetics. 111: 27-30. PMID 12124729 DOI: 10.1002/Ajmg.10473 |
0.493 |
|
| 2002 |
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, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Human Molecular Genetics. 11: 1029-36. PMID 11978762 DOI: 10.1093/Hmg/11.9.1029 |
0.47 |
|
| 2002 |
Espinoza HM, Cox CJ, Semina EV, Amendt BA. A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Human Molecular Genetics. 11: 743-53. PMID 11929847 DOI: 10.1093/Hmg/11.7.743 |
0.556 |
|
| 2001 |
Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF. Identification of a dominant negative homeodomain mutation in Rieger syndrome. The Journal of Biological Chemistry. 276: 23034-41. PMID 11301317 DOI: 10.1074/Jbc.M008592200 |
0.562 |
|
| 2001 |
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 Human Molecular Genetics. 10: 231-236. PMID 11159941 DOI: 10.1093/Hmg/10.3.231 |
0.586 |
|
| 2000 |
Amendt BA, Semina EV, Alward WLM. Rieger syndrome: A clinical, molecular, and biochemical analysis Cellular and Molecular Life Sciences. 57: 1652-1666. PMID 11092457 DOI: 10.1007/Pl00000647 |
0.522 |
|
| 2000 |
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 Human Molecular Genetics. 9: 1575-1585. PMID 10861284 DOI: 10.1093/Hmg/9.11.1575 |
0.494 |
|
| 2000 |
Hjalt TA, Semina EV, Amendt BA, Murray JC. The Pitx2 protein in mouse development Developmental Dynamics. 218: 195-200. PMID 10822271 DOI: 10.1002/(Sici)1097-0177(200005)218:1<195::Aid-Dvdy17>3.0.Co;2-C |
0.427 |
|
| 2000 |
Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJR, Rosenbaum K, Weaver DD, Murray JC. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome American Journal of Medical Genetics. 91: 387-390. PMID 10767004 DOI: 10.1002/(Sici)1096-8628(20000424)91:5<387::Aid-Ajmg13>3.0.Co;2-1 |
0.563 |
|
| 2000 |
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. 63: 289-293. PMID 10673340 DOI: 10.1006/Geno.1999.6093 |
0.424 |
|
| 2000 |
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. 93. DOI: 10.1002/1096-8628(20000717)93:2<169::Aid-Ajmg19>3.0.Co;2-M |
0.417 |
|
| 1998 |
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 Mammalian Genome. 9: 921-924. PMID 9799849 DOI: 10.1007/S003359900899 |
0.315 |
|
| 1998 |
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 European Journal of Human Genetics. 6: 251-256. PMID 9781029 DOI: 10.1038/Sj.Ejhg.5200187 |
0.437 |
|
| 1998 |
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. American Journal of Human Genetics. 63: 557-68. PMID 9683588 DOI: 10.1086/301956 |
0.511 |
|
| 1998 |
Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WLM, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC. A novel homeobox gene PITX3 is mutated in families with autosomal- dominant cataracts and ASMD Nature Genetics. 19: 167-170. PMID 9620774 DOI: 10.1038/527 |
0.526 |
|
| 1998 |
Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome Human Molecular Genetics. 7: 1113-1117. PMID 9618168 DOI: 10.1093/Hmg/7.7.1113 |
0.641 |
|
| 1998 |
Semina EV, Reiter RS, Murray JC. A new human homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse Human Molecular Genetics. 7: 415-422. PMID 9466998 DOI: 10.1093/Hmg/7.3.415 |
0.417 |
|
| 1998 |
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. American Journal of Ophthalmology. 125: 98-100. PMID 9437321 DOI: 10.1016/S0002-9394(99)80242-6 |
0.59 |
|
| 1997 |
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 Human Molecular Genetics. 6: 2109-2116. PMID 9328475 DOI: 10.1093/Hmg/6.12.2109 |
0.476 |
|
| 1996 |
Semina EV, Reiter R, Leysens NJ, Alward WLM, 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 Nature Genetics. 14: 392-399. PMID 8944018 DOI: 10.1038/Ng1296-392 |
0.524 |
|
| 1996 |
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. American Journal of Human Genetics. 59: 1288-96. PMID 8940274 |
0.35 |
|
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