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Case Reports in Pediatrics|May 22, 2013
Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrumDeepakbabu Chellapandian, Adele SchneiderAmerican Journal of Medical Genetics. Part A|December 4, 2004
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registryTanya M Bardakjian, Adele SchneiderCurrent Opinion in Ophthalmology|August 10, 2011
The genetics of anophthalmia and microphthalmiaTanya M Bardakjian, Adele SchneiderAmerican Journal of Medical Genetics. Part A|November 19, 2009
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmiaAdele Schneider, Tanya Bardakjian, Linda M Reis, et al.Molecular Vision|May 11, 2010
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesLinda M Reis, Rebecca C Tyler, Adele Schneider, et al.Journal of Medical Genetics|December 3, 2025
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmiaSarah E Seese, Linda M Reis, Adele Schneider, et al.European Journal of Human Genetics : EJHG|November 30, 2022
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypesLinda M Reis, Nicolas Chassaing, Tanya Bardakjian, et al.Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|March 19, 2018
Ocular manifestations of PACS1 mutationMaria Pefkianaki, Adele Schneider, Jenina E Capasso, et al.American Journal of Medical Genetics. Part A|May 10, 2023
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrumOnochie Okoye, Jenina Capasso, Sarina M Kopinsky, et al.American Journal of Medical Genetics. Part A|January 7, 2020
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutationLouise Amlie-Wolf, Sue Moyer-Harasink, Ann-Marie Carr, et al.Pageof 5