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

od Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Wydane 2014

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

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

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

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

VSX2 mutations in autosomal recessive microphthalmia

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

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

od Reis, Linda M, Tyler, Rebecca C, Zori, Roberto, Burgesst, Jennifer, Mueller, Jennifer, Semina, Elena V
Wydane 2013

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

od Schilter, Kala, Schneider, Adele, Bardakjian, Tanya, Soucy, Jean-François, Tyler, Rebecca C., Reis, Linda M., Semina, Elena V.
Wydane 2011

FOXE3 plays a significant role in autosomal recessive microphthalmia

od Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Stoler, Joan M., Melancon, Serge B., Semina, Elena V.
Wydane 2010

Whole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomalies

od Reis, Linda M., Tyler, Rebecca C., Weh, Eric, Hendee, Kathryn E, Schilter, Kala F., Phillips, John A., Sequeira, Silvia, Schinzel, Albert, Semina, Elena V.
Wydane w Clin Genet (2016)

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

od 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
Wydane w Hum Mol Genet (2018)

Whole Exome Sequencing in Dominant Cataract Identifies a New Causative Factor, CRYBA2, and a Variety of Novel Alleles in Known Genes

od Reis, Linda M., Tyler, Rebecca C., Muheisen, Sanaa, Raggio, Victor, Salviati, Leonardo, Han, Dennis P., Costakos, Deborah, Yonath, Hagith, Hall, Sarah, Power, Patricia, Semina, Elena V.
Wydane 2013

Mutation Analysis of B3GALTL in Peters Plus Syndrome

od Reis, Linda M., Tyler, Rebecca C., Abdul-Rahman, Omar, Trapane, Pamela, Wallerstein, Robert, Broome, Diane, Hoffman, Jodi, Khan, Aneal, Paradiso, Christina, Ron, Nitin, Bergner, Amanda, Semina, Elena V.
Wydane 2008

Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

od Weh, Eric, Reis, Linda M., Tyler, Rebecca C., Bick, David, Rhead, William J., Wallace, Stephanie, McGregor, Tracy L., Dills, Shelley K., Chao, Mei-Chyn, Murray, Jeffrey C., Semina, Elena V.
Wydane 2013

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

od Reis, Linda M, Tyler, Rebecca C, Volkmann Kloss, Bethany A, Schilter, Kala F, Levin, Alex V, Lowry, R Brian, Zwijnenburg, Petra J G, Stroh, Eliza, Broeckel, Ulrich, Murray, Jeffrey C, Semina, Elena V
Wydane 2012

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

od 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.
Wydane 2011

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

od 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.
Wydane w Mol Vis (2016)