Brett Deml

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

Brett Deml, Linda M. Reis, Emmanuelle Lemyre et al. · European Journal of Human Genetics · 2015 · 85 citations · Full text

Ocular Disease, Mendelian Disorder, Ophthalmology +13

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Brett Deml, Ariana Kariminejad, Razieh H. R. Borujerdi et al. · PLoS Genetics · 2015 · 60 citations · Full text

Ocular Coloboma Results, Ocular Disease, Family Members +19

Whole exome analysis identifies dominant <i><scp>COL4A1</scp></i> mutations in patients with complex ocular phenotypes involving microphthalmia

Brett Deml, Linda M. Reis, Mohit Maheshwari et al. · Clinical Genetics · 2014 · 52 citations · Full text

Developmental Anomaly, Ocular Disease, Mendelian Disorder +15

<i>EFTUD2</i> deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

Brett Deml, Linda M. Reis, Sanaa Muheisen et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2015 · 39 citations · Full text

Identification of missense <i>MAB21L1</i> variants in microphthalmia and aniridia

Sarah E. Seese, Linda M. Reis, Brett Deml et al. · Human Mutation · 2021 · 18 citations · Full text