Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
The phenotypic spectrum of CEP250 gene variants.
Courdier C et al.
Ophthalmic Genetics, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_2
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Machado T et al.
Orphanet Journal of Rare Diseases, 2025
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss.
Kang M et al.
Cells, 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
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C et al.
Scientific Reports, 2018
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