Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.
Zufiaurre-Seijo M et al.
International Journal of Molecular Sciences, 2023
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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
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
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
Khateb S et al.
Journal of Medical Genetics, 2014
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