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Ophthalmic Genetics|November 14, 2019
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) geneMaha M Mameesh, Adila Al-Kindy, Majda Al-Yahyai, et al.Ophthalmic Genetics|February 5, 2019
Enhanced expression of son of sevenless homolog 1 is predictive of poor prognosis in uveal malignant melanoma patientsYan-Shuang Wang, Lan WuOphthalmic Genetics|February 27, 2020
Patient-reported outcome measures in inherited retinal degeneration gene therapy trialsGabrielle D Lacy, Maria Fernanda Abalem, David C Musch, et al.Ophthalmic Genetics|February 28, 2020
Toll-like receptor 4 gene polymorphisms rs4986790 and rs4986791 and age-related macular degeneration susceptibility: a meta-analysisXiao-Cui Liu, Xiao-Hui Guo, Xiang Chen, et al.Ophthalmic Genetics|September 17, 2020
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophyAbhimanyu S Ahuja, Pavalan Selvam, Charitha Vadlamudi, et al.Ophthalmic Genetics|September 25, 2020
Severe retinal degeneration in a patient with Canavan diseaseMatthew D Benson, David J A Plemel, Paul R Freund, et al.Ophthalmic Genetics|September 1, 2020
Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cystBenjamin Katz, Jennifer Enright, Steven Couch, et al.Ophthalmic Genetics|November 20, 2019
A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletionArif O Khan, Piergiorgio Neri, Amal Mohamed Al TeneijiOphthalmic Genetics|December 10, 2020
A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumorKatherine T Lind, Nicholas G Cost, Kelsey Zegar, et al.Pageof 185