抖阴短视频

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Ophthalmology and Visual Sciences
Elena Semina, PhD

Elena Semina, PhD

Marjorie and Joseph Heil Professor of Ophthalmology & Visual Sciences; Professor, Pediatrics; Professor, Cell Biology, Neurobiology and Anatomy

Contact Information

Education

PhD, National Center for Medical Genetics (Moscow, Russia), 1993
Postdoctoral, Research Centre for Medical Genetics of Russian Academy of Sciences, Moscow, Russia
Postdoctoral, The University of Iowa, Iowa City, Iowa

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

Research Interests

Genes involved in embryonic development, with particular focus on ocular and craniofacial development.

Our research focuses on a broad spectrum of developmental ocular conditions ranging from anophthalmia and microphthalmia to anterior segment dysgenesis, glaucoma, and cataract, both isolated and syndromic. We seek to better understand the mechanisms behind these potentially debilitating conditions through the identification of causative mutations/genes in affected human pedigrees and characterization of their function and molecular pathways in cell and animal models. Characterization of factors involved in human disease leads to better understanding of the processes required for normal embryonic development in humans as well as other species. For families and their clinicians, identification of the disease-causing mutation supplies important information by providing a specific diagnosis, enabling more precise determination of recurrence risks, and identifying associated health risks which may need to be monitored.

Publications

  • (Ferre-Fernández JJ, Reis LM, Semina EV.) Hum Genomics. 2025 Mar 29;19(1):33 PMID: 40158102 PMCID: PMC11954209 SCOPUS ID: 2-s2.0-105001442057 03/30/2025

  • (Reis LM, Zaidman GW, Thompson S, Muheisen S, Glaser T, Semina EV.) Am J Med Genet A. 2025 Mar;197(3):e63911 PMID: 39450701 PMCID: PMC11821440 SCOPUS ID: 2-s2.0-85207538260 10/25/2024

  • (Merepa SS, Reis LM, Damián A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Galarza LC, Saez Villaverde R, Ortiz-Cabrera NV, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NK.) European Journal of Human Genetics. 2025 SCOPUS ID: 2-s2.0-105003803205 01/01/2025

  • (Reis LM, Basel D, Bitoun P, Walton DS, Glaser T, Semina EV.) Genes (Basel). 2024 Dec 20;15(12) PMID: 39766903 PMCID: PMC11675438 SCOPUS ID: 2-s2.0-85213270754 01/08/2025

  • (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.) Nat Commun. 2024 Oct 26;15(1):9245 PMID: 39455595 PMCID: PMC11511899 SCOPUS ID: 2-s2.0-85207625328 10/26/2024

  • (Reis LM, Seese SE, Costakos D, Semina EV.) Prog Retin Eye Res. 2024 Sep;102:101288 PMID: 39097141 PMCID: PMC11392650 SCOPUS ID: 2-s2.0-85200800135 08/04/2024

  • (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, Schimmenti LA, Klee EW.) Am J Med Genet A. 2024 May;194(5):e63542 PMID: 38234180 PMCID: PMC11003841 SCOPUS ID: 2-s2.0-85182427833 01/18/2024

  • (Untaroiu A, Reis LM, Higgins BP, Walesa A, Zacharias S, Nikezic D, Costakos DM, Carroll J, Semina EV.) Invest Ophthalmol Vis Sci. 2024 Apr 01;65(4):20 PMID: 38587439 PMCID: PMC11005067 SCOPUS ID: 2-s2.0-85190399640 04/08/2024

  • (.) . 12/20/2024

  • (Replogle MR, Thompson S, Reis LM, Semina EV.) Hum Mutat. 2024;2024 PMID: 39450403 PMCID: PMC11501074 SCOPUS ID: 2-s2.0-85185155859 10/25/2024

  • (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, Schimmenti LA, Klee EW.) American Journal of Medical Genetics Part A. May 2024;194(5) SCOPUS ID: 2-s2.0-85182427833 05/01/2024

  • (Replogle MR, Thompson S, Reis LM, Semina EV.) Human Mutation. 2024;2024 SCOPUS ID: 2-s2.0-85185155859 01/01/2024

Publications of from the

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