Associated Papers
Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.
Clark AM et al.
Jci Insight, 2024
37971880 (PubMed )
Supplement: jciinsight-9-162621-s010.pdf
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
Rahner N et al.
Ophthalmic Genetics, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E et al.
Human Molecular Genetics, 2016
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
Katagiri S et al.
Ophthalmic Genetics, 2016
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z et al.
Molecular Vision, 2015
Select a paper to view details