Schneider, Adele S.

Top Publications

Top Publications Authored or Co-Authored by "Schneider, Adele S."

• Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg anophthalmia) syndrome in humans and mice

  PLoS Genetics, Volume 7, No. 7, Article e1002114, Year 2011, Citations 83
• ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

  Human Molecular Genetics, Volume 22, No. 16, Article ddt179, Year 2013, Citations 67
• VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

  Human Mutation, Volume 33, No. 2, Year 2012, Citations 65
• Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis

  American Journal of Medical Genetics, Part A, Volume 191, No. 4, Year 2023, Citations 10
• SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum

  American Journal of Medical Genetics, Part A, Volume 191, No. 8, Year 2023, Citations 6