Associated Papers
Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.
Futyma A et al.
Journal of Applied Genetics, 2025
Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.
Rotulo GA et al.
Pediatrics and Neonatology, 2025
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M et al.
Scientific Reports, 2022
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.
Daich Varela M et al.
Ophthalmic Genetics, 2022
A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.
Karimzadeh MR et al.
Journal of Molecular Neuroscience : Mn, 2021
Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
Lou G et al.
Journal of Molecular Neuroscience : Mn, 2021
A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome.
Li L et al.
Frontiers in Pediatrics, 2021
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
Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
Nasser F et al.
Acta Ophthalmologica, 2020
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Koehler K et al.
American Journal of Medical Genetics. Part A, 2020
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y et al.
European Journal of Medical Genetics, 2020
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Clinical variability of genetic isolates of Cohen syndrome.
Douzgou S et al.
Clinical Genetics, 2011
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome.
Shearman JR et al.
Bmc Genomics, 2011
Cohen syndrome diagnosis using whole genome arrays.
Rivera-Brugués N et al.
Journal of Medical Genetics, 2011
Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
Waite A et al.
American Journal of Medical Genetics. Part A, 2010
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
Bugiani M et al.
American Journal of Medical Genetics. Part A, 2008
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
Kolehmainen J et al.
American Journal of Human Genetics, 2004
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies HC et al.
American Journal of Human Genetics, 2004
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
Mochida GH et al.
Journal of Medical Genetics, 2004
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