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

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

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 2016

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 2015

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

by Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H. R., Muheisen, Sanaa, Reis, Linda M., Semina, Elena V.
Published 2015

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

by Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V
Published 2016

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

by Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Published 2011

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

by Reis, Linda M., Tyler, Rebecca C., Weh, Eric, Hendee, Kathryn E., Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A., Yesilyurt, Ahmet, McCarty, Catherine A., Kitchner, Terrie E., Costakos, Deborah, Semina, Elena V.
Published 2016