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Ophthalmology|August 7, 2022
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX GeneSamar Yahya, Claire E L Smith, James A Poulter, et al.Journal of Medical Genetics|November 18, 2023
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfectaUmmey Hany, Christopher M Watson, Lu Liu, et al.American Journal of Human Genetics|October 4, 2016
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis ImperfectaDavid A Parry, Claire E L Smith, Walid El-Sayed, et al.American Journal of Human Genetics|September 22, 2015
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Ilham Ratbi, Kim D Falkenberg, Manou Sommen, et al.American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.Pageof 33