1. Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy
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2. Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
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3. Brain Disorders and Chemical Pollutants: A Gap Junction Link?
   Marc Mesnil et al, 2020, Biomolecules CrossRef
4. Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms
   Morteza Seifi et al, 2018, PLOS ONE CrossRef
5. Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients
   Jingyi Luo et al, 2019, Acta Ophthalmologica CrossRef
6. Anomalies de développement
   Jean-Louis Bourges, 2020, La Cornée CrossRef
7. Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy
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8. Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life
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10. Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
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11. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations
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12. An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases
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13. Identification of a New Genetic Mutation Associated With Peters Anomaly
    Hanna Faber et al, 2021, Cornea CrossRef
14. Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa
    Xing Liu et al, 2020, Experimental Eye Research CrossRef
15. Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia
    Yi Jiang et al, 2021, Frontiers in Cell and Developmental Biology CrossRef
16. Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
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17. Rare heterozygous GDF6 variants in patients with renal anomalies
    Helge Martens et al, 2020, European Journal of Human Genetics CrossRef
18. Corneal endothelial cell density and cardiovascular mortality
    Warren J. Scherer, 2018, Clinical Anatomy CrossRef
19. Activation of Sonic Hedgehog Signaling Pathway Regulates Human Trabecular Meshwork Cell Function
    Xiaochen Wang et al, 2023, Journal of Ocular Pharmacology and Therapeutics CrossRef
20. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
    J. Plaisancié et al, 2019, Human Genetics CrossRef