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Genes|January 21, 2023
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye DiseaseLinda M Reis, Huban Atilla, Peter Kannu, et al.
American Journal of Medical Genetics. Part A|September 25, 2021
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research studyLouise Amlie-Wolf, Tanya Bardakjian, Sarina M Kopinsky, et al.
Journal of Community Genetics|January 14, 2014
Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic DiseasesJessica R L Warsch, Sean Warsch, Elizabeth Herman, et al.
Cell|April 25, 2015
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye DiseaseChristopher M Chou, Christine Nelson, Susan A Tarlé, et al.
American Journal of Medical Genetics. Part A|February 9, 2010
FOXE3 plays a significant role in autosomal recessive microphthalmiaLinda M Reis, Rebecca C Tyler, Adele Schneider, et al.
Clinical Genetics|December 14, 2020
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmiaLinda M Reis, Deborah Costakos, Patricia G Wheeler, et al.
Molecular Vision|April 4, 2008
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmiaJie Zhou, Femida Kherani, Tanya M Bardakjian, et al.
BMC Genetics|November 13, 2010
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomaliesAnneke I den Hollander, Janisha Biyanwila, Peter Kovach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 27, 2013
ACMG position statement on prenatal/preconception expanded carrier screeningWayne W Grody, Barry H Thompson, Anthony R Gregg, et al.
BMC Medical Genetics|December 30, 2011
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, et al.
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