Associated Papers
Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.
Hassall MM et al.
Scientific Reports, 2023
Myelin regulatory factor deficiency is associated with the retinal photoreceptor defects in mice.
Yu X et al.
Visual Neuroscience, 2021
A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Koenighofer M et al.
Experimental Eye Research, 2021
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L et al.
Scientific Reports, 2020
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.
Cross SH et al.
Plos Genetics, 2020
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.
Cross SH et al.
Investigative Ophthalmology & Visual Science, 2019
Nanophthalmos: A Review of the Clinical Spectrum and Genetics.
Carricondo PC et al.
Journal of Ophthalmology, 2018
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson R et al.
European Journal of Human Genetics : Ejhg, 2017
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Khorram D et al.
Molecular Vision, 2015
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