Elena V Semina

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 18

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Top Venues

Clinical genetics

Developmental dynamics : an official publication of the American Association of Anatomists

This page only lists publications with an associated author ORCID identifier.

Publications

Linda M Reis, David J Amor, Raad A Haddad, Catherine B Nowak, Kim M Keppler-Noreuil, Smith Ann Chisholm, Elena V Semina
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum. Genes 14 (10) (2023)
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. European journal of human genetics : EJHG (2023)
Linda M Reis, Huban Atilla, Peter Kannu, Adele Schneider, Samuel Thompson, Tanya Bardakjian, Elena V Semina
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. Genes 14 (1) (2023)
Linda M Reis, Huban Atilla, Peter Kannu, Adele Schneider, Samuel Thompson, Tanya Bardakjian, Elena V Semina
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. Genes 14 (1) (2023)
Linda M Reis, Huban Atilla, Peter Kannu, Adele Schneider, Samuel Thompson, Tanya Bardakjian, Elena V Semina
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. Genes 14 (1) (2023)
Sarah E Seese, Sanaa Muheisen, Natalie Gath, Jeffrey M Gross, Elena V Semina
Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. Developmental dynamics : an official publication of the American Association of Anatomists (2022)
Linda M Reis, Sarah Seese, Mohit Maheshwari, Donald Basel, LuAnn Weik, Julie McCarrier, null University Of Washington Center For Mendelian Genomics, Elena V Semina
Novel Genetic Diagnoses in Septo-Optic Dysplasia. Genes 13 (7) (2022)
Linda M Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina Skalicka, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H Seeley, Deborah Costakos, Thomas M Glaser, Alex V Levin, Petra Liskova, Jeffrey C Murray, Elena V Semina
Axenfeld-Rieger syndrome: more than meets the eye. Journal of medical genetics (2022)
Linda M Reis, Nicolas Chassaing, Tanya Bardakjian, Samuel Thompson, Adele Schneider, Elena V Semina
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. European journal of human genetics : EJHG (2022)
Sarah E Seese, Sanaa Muheisen, Natalie Gath, Jeffrey M Gross, Elena V Semina
Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. Developmental dynamics : an official publication of the American Association of Anatomists (2022)
Sarah E Seese, Linda M Reis, Brett Deml, Christopher Griffith, Adi Reich, Robyn V Jamieson, Elena V Semina
Identification of missense MAB21L1 variants in microphthalmia and aniridia. Human mutation 42 (7) (2021)
Elena A Sorokina, Linda M Reis, Samuel Thompson, Katherine Agre, Dusica Babovic-Vuksanovic, Marissa S Ellingson, Linda Hasadsri, Yolande van Bever, Elena V Semina
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. Human genetics 140 (12) (2021)
Sarah E Seese, Brett Deml, Sanaa Muheisen, Elena Sorokina, Elena V Semina
Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways. Developmental dynamics : an official publication of the American Association of Anatomists 250 (8) (2021)
Linda M Reis, Deborah Costakos, Patricia G Wheeler, Tanya Bardakjian, Adele Schneider, Simon S M Fung, null null, Elena V Semina
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clinical genetics 99 (3) (2020)
Linda M Reis, Donald Basel, Julie McCarrier, David V Weinberg, Elena V Semina
Compound heterozygous splicing CDON variants result in isolated ocular coloboma. Clinical genetics 98 (5) (2020)
Linda M Reis, Nathalie S Houssin, Carlos Zamora, Omar Abdul-Rahman, Jennifer M Kalish, Elaine H Zackai, Timothy F Plageman, Elena V Semina
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. Clinical genetics 97 (3) (2019)
Eric Weh, Hideyuki Takeuchi, Sanaa Muheisen, Robert S Haltiwanger, Elena V Semina
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. PloS one 12 (9) (2017)
Kathryn Hendee, Lauren Weiping Wang, Linda M Reis, Gregory M Rice, Suneel S Apte, Elena V Semina
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 38 (11) (2017)