Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.
Zhou N et al.
Journal of Medical Genetics, 2024
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
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
El Chehadeh-Djebbar S et al.
Journal of Medical Genetics, 2011
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Parri V et al.
European Journal of Human Genetics : Ejhg, 2010
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S et al.
Journal of Medical Genetics, 2010
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Katzaki E et al.
Journal of Human Genetics, 2007
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