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

por Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Publicado 2014

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

por Schilter, Kala F., Reis, Linda M., Sorokina, Elena A., Semina, Elena V.
Publicado 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

por Happ, Hannah, Weh, Eric, Costakos, Deborah, Reis, Linda M., Semina, Elena V.
Publicado 2016

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

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

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

por Reis, Linda M., Chassaing, Nicolas, Bardakjian, Tanya, Thompson, Samuel, Schneider, Adele, Semina, Elena V.
Publicado 2022

VSX2 mutations in autosomal recessive microphthalmia

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

Analysis of FOXD3 sequence variation in human ocular disease

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

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

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

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia

por Brémond-Gignac, Dominique, Bitoun, Pierre, Reis, Linda M., Copin, Henri, Murray, Jeffrey C., Semina, Elena V.
Publicado 2010

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

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

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease

por Reis, Linda M., Atilla, Huban, Kannu, Peter, Schneider, Adele, Thompson, Samuel, Bardakjian, Tanya, Semina, Elena V.
Publicado 2023

Identification of missense MAB21L1 variants in microphthalmia and aniridia

por Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.
Publicado 2021

Novel Genetic Diagnoses in Septo-Optic Dysplasia

por Reis, Linda M., Seese, Sarah, Maheshwari, Mohit, Basel, Donald, Weik, LuAnn, McCarrier, Julie, Semina, Elena V.
Publicado 2022

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

por Reis, Linda M., Amor, David J., Haddad, Raad A., Nowak, Catherine B., Keppler-Noreuil, Kim M., Chisholm, Smith Ann, Semina, Elena V.
Publicado 2023

PITX2 deficiency and associated human disease: insights from the zebrafish model

por Hendee, Kathryn E, Sorokina, Elena A, Muheisen, Sanaa S, Reis, Linda M, Tyler, Rebecca C, Markovic, Vujica, Cuturilo, Goran, Link, Brian A, Semina, Elena V
Publicado 2018

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

por 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.
Publicado 2011

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

por 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.
Publicado 2016

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

por Reis, Linda M, Sorokina, Elena A, Dudakova, Lubica, Moravikova, Jana, Skalicka, Pavlina, Malinka, Frantisek, Seese, Sarah E, Thompson, Samuel, Bardakjian, Tanya, Capasso, Jenina, Allen, William, Glaser, Tom, Levin, Alex V, Schneider, Adele, Khan, Ayesha, Liskova, Petra, Semina, Elena V
Publicado 2021

Axenfeld-Rieger syndrome: more than meets the eye

por Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.
Publicado 2023

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

por Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad
Publicado 2023