Associated Papers
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M et al.
Scientific Reports, 2022
35690661 (PubMed )
Supplement: 41598_2022_13717_MOESM1_ESM.pdf
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Gabrielle PH et al.
Scientific Reports, 2021
34385517 (PubMed )
Supplement: 41598_2021_95743_MOESM2_ESM.xlsx › Supplementary_Table_S1
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
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
El Chehadeh-Djebbar S et al.
European Journal of Human Genetics : Ejhg, 2013
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert W et al.
Journal of Medical Genetics, 2006
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
Kolehmainen J et al.
American Journal of Human Genetics, 2003
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