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Ophthalmic Genetics|May 21, 2020
A de novo mutation in <i>PITX2</i> underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathyStephanie N Kletke, Ajoy Vincent, Jason T Maynes, et al.
Investigative Ophthalmology & Visual Science|December 4, 2025
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 PatientsKirill Zaslavsky, Anupreet Tumber, Eoghan Millar, et al.
European Journal of Medical Genetics|August 22, 2020
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathyMonika K Grudzinska Pechhacker, Grace Yoon, Lili-Naz Hazrati, et al.
Molecular Genetics & Genomic Medicine|November 29, 2018
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndromeErika Tavares, Chen Yu Tang, Anjali Vig, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|May 8, 2026
Characteristic ocular features of pediatric patients with Loeys-Dietz syndromeWaleed K Alsarhani, Reem Al Nabulsi, Alaa AlAli, et al.
Ophthalmic Genetics|July 22, 2020
<i>CRB1</i>-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiencyMonika K Grudzinska Pechhacker, Matteo Di Scipio, Anjali Vig, et al.
The British Journal of Ophthalmology|May 1, 2015
Retinal degeneration in autoimmune polyglandular syndrome type 1: a case seriesSerge Bourgault, Catherine Baril, Ajoy Vincent, et al.
Eye (London, England)|May 24, 2023
Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndromeBrian G Ballios, Amarilla Mandola, Alaa Tayyib, et al.
Ophthalmology|March 5, 2013
A phenotype-genotype correlation study of X-linked retinoschisisAjoy Vincent, Anthony G Robson, Magella M Neveu, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|October 26, 2018
Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative dataHenry Liu, Xiang Ji, Sabrina Dhaliwal, et al.
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