pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish

by Liu, Yi, Semina, Elena V.
Published 2012

GENETICS OF ANTERIOR SEGMENT DYSGENESIS DISORDERS

by Reis, Linda M., Semina, Elena V.
Published 2011

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

by Reis, Linda M., Semina, Elena V.
Published in Birth Defects Res C Embryo Today (2015)

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

by Reis, Linda M., Semina, Elena V.
Published in Hum Genet (2018)

Lens Extrusion from Laminin Alpha 1 Mutant Zebrafish

by Pathania, Mallika, Semina, Elena V., Duncan, Melinda K.
Published 2014

Functional analysis of human mutations in homeodomain transcription factor PITX3

by Sakazume, Satoru, Sorokina, Elena, Iwamoto, Yoshiki, Semina, Elena V
Published 2007

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

by Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Published 2014

MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens

by Sorokina, Elena A., Muheisen, Sanaa, Mlodik, Nevin, Semina, Elena V.
Published 2011

laminin alpha 1 gene is essential for normal lens development in zebrafish

by Zinkevich, Natalya S, Bosenko, Dmitry V, Link, Brian A, Semina, Elena V
Published 2006

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

by Weh, Eric, Takeuchi, Hideyuki, Muheisen, Sanaa, Haltiwanger, Robert S., Semina, Elena V.
Published in PLoS One (2017)

EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model

by Deml, Brett, Reis, Linda M., Muheisen, Sanaa, Bick, David, Semina, Elena V.
Published in Birth Defects Res A Clin Mol Teratol (2015)

Identification of an Alu‐repeat‐mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype

by Schilter, Kala F., Reis, Linda M., Sorokina, Elena A., Semina, Elena V.
Published in Mol Genet Genomic Med (2015)

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

by Happ, Hannah, Weh, Eric, Costakos, Deborah, Reis, Linda M., Semina, Elena V.
Published in BMC Med Genet (2016)

Novel SOX2 Mutations and Genotype-Phenotype Correlation in Anophthalmia and Microphthalmia

by Schneider, Adele, Bardakjian, Tanya, Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Published 2009

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

by Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Semina, Elena V.
Published 2010

8q21.11 Microdeletion in Two Patients with Syndromic Peters Anomaly

by Happ, Hannah, Schilter, Kala F., Weh, Eric, Reis, Linda M., Semina, Elena V.
Published in Am J Med Genet A (2016)

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

by Deml, Brett, Reis, Linda M., Maheshwari, Mohit, Griffis, Cristin, Bick, David, Semina, Elena V.
Published 2014

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

by Maciolek, Nicole L, Alward, Wallace LM, Murray, Jeffrey C, Semina, Elena V, McNally, Mark T
Published 2006

VSX2 mutations in autosomal recessive microphthalmia

by Reis, Linda M., Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C., Semina, Elena V.
Published 2011

Analysis of FOXD3 sequence variation in human ocular disease

by Kloss, Bethany A. Volkmann, Reis, Linda M., Brémond-Gignac, Dominique, Glaser, Tom, Semina, Elena V.
Published 2012