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

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