Associated Papers
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Gabrielle PH et al.
Scientific Reports, 2021
34385517 (PubMed )
Supplement: 41598_2021_95743_MOESM4_ESM.xlsx › Supplementary_Table_S3
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Lhussiez V et al.
Investigative Ophthalmology & Visual Science, 2020
32915983 (PubMed )
Supplement: iovs-61-11-18_s001.pdf
Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
Nasser F et al.
Acta Ophthalmologica, 2020
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
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