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 genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM et al.
Clinical Genetics, 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
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
Awadalla MS et al.
Jama Ophthalmology, 2014
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