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| 36595661 | Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. | | 2023 |
| 36450800 | ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. | European Journal of Human Genetics | 2023 |
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| 36672956 | Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. | | 2023 |
| 37163579 | SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum. | | 2023 |
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| 32820033 | De novo missense variants in are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. | Journal of Medical Genetics | 2021 |
| 34046667 | Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. | Human Molecular Genetics | 2021 |
| 33314030 | Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. | Clinical Genetics | 2021 |
| 31903681 | Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation. | American Journal of Medical Genetics, Part A | 2020 |
| 32015378 | Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. | J Hum Genet | 2020 |
| 30281527 | Ophthalmic manifestations associated with RARB mutations. | Clinical Dysmorphology | 2019 |
| 29550517 | Ocular manifestations of PACS1 mutation. | Journal of AAPOS | 2018 |
| 30586382 | Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. | PLoS Genet | 2018 |
| 27661448 | Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. | Ophthalmic Genet | 2017 |
| 29260090 | A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (<i>GDF3</i>) in a female with unilateral anophthalmia and skeletal anomalies. | Am J Ophthalmol Case Rep | 2017 |
| 27120018 | Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. | Hum Mutat | 2016 |
| 27427475 | Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations. | Am J Med Genet A | 2016 |
| 24939590 | Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. | Eur J Hum Genet | 2015 |
| 25457163 | Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. | Clin Genet | 2015 |
| 25910211 | Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. | Cell | 2015 |
| 25730230 | Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. | Obstet Gynecol | 2015 |
| 24415495 | Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases. | Journal of Community Genetics | 2014 |
| 23691403 | Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum. | | 2013 |
| 22283518 | A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. | Clin Genet | 2013 |
| 23591992 | ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. | Hum Mol Genet | 2013 |
| 23619275 | ACMG position statement on prenatal/preconception expanded carrier screening. | Genet Med | 2013 |
| 23701296 | Whole-genome copy number variation analysis in anophthalmia and microphthalmia. | Clin Genet | 2013 |
| 22095910 | VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. | Hum Mutat | 2012 |
| 22791840 | Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. | J Med Genet | 2012 |
| 23430931 | Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis. | JIMD Rep | 2012 |
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| 21344626 | Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy. | American Journal of Medical Genetics, Part A | 2011 |
| 21340693 | BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. | Hum Genet | 2011 |
| 21285886 | Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. | Genet Med | 2011 |
| 20486942 | OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. | Clinical Genetics | 2011 |
| 22204637 | Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. | BMC Med Genet | 2011 |
| 21750680 | Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. | PLoS Genet | 2011 |
| 20140963 | FOXE3 plays a significant role in autosomal recessive microphthalmia. | American Journal of Medical Genetics, Part A | 2010 |
| 21082658 | Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. | Am J Med Genet A | 2010 |
| 21070663 | Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies. | BMC Genet | 2010 |
| 20485507 | A male with unilateral microphthalmia reveals a role for TMX3 in eye development. | PLoS One | 2010 |
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| 20454695 | Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. | Molecular Vision | 2010 |
| 19876898 | Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing. | American Journal of Medical Genetics, Part A | 2009 |
| 20003547 | Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. | BMC Med Genet | 2009 |
| 19921648 | Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. | American Journal of Medical Genetics, Part A | 2009 |
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| 18382992 | Monozygotic twins discordant for VACTERL association. | Prenat Diagn | 2008 |