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JMIR Medical Informatics|December 13, 2021
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic ReviewHoward Maile, Ji-Peng Olivia Li, Daniel Gore, et al.
Scientific Reports|August 10, 2017
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locusValentina Cipriani, Raquel S Silva, Gavin Arno, et al.
Investigative Ophthalmology & Visual Science|May 3, 2024
Sex Distributions in Non-ABCA4 Autosomal Macular DystrophiesAmit V Mishra, Sandra Vermeirsch, Siying Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophyMarcos Abreu Costa, Amanda N Sadan, Nihar Bhattacharyya, et al.
Npj Women'S Health|December 10, 2024
Retinal morphology across the menstrual cycle: insights from the UK BiobankAna Paula Ribeiro Reis, Estelle Ioannidou, Siegfried Karl Wagner, et al.
American Journal of Human Genetics|August 5, 2022
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenitaHemanth Tummala, Amanda Walne, Roberto Buccafusca, et al.
American Journal of Ophthalmology|May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With MicrocephalySarah Hull, Gavin Arno, Pia Ostergaard, et al.
Ophthalmology|May 25, 2026
Genetic Prediction of Keratoplasty in Fuchs Endothelial Corneal DystrophySiyin Liu, Anita Szabo, Christina Zarouchlioti, et al.
American Journal of Ophthalmology|April 26, 2022
Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic DataHoward P Maile, Ji-Peng Olivia Li, Mary D Fortune, et al.
Human Mutation|February 3, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophyRaquel S Silva, Gavin Arno, Valentina Cipriani, et al.
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