Associated Papers
Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.
Zhai Y et al.
American Journal of Medical Genetics. Part A, 2024
RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.
Chen C et al.
International Journal of Molecular Sciences, 2023
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
Abu-Diab A et al.
Translational Vision Science & Technology, 2023
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD et al.
Ophthalmic Genetics, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
Huang XF et al.
Human Mutation, 2019
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.
Kubota D et al.
Ophthalmic Genetics, 2018
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