Disease: Microcephaly mental retardation retinopathy
- A Novel Variant of the KIF11 Gene, c.2922G>T, Is Associated with Microcephaly by Affecting RNA Splicing
- A Novel Variant of the KIF11 Gene, c.2922G>T, Is Associated with Microcephaly by Affecting RNA Splicing
- A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome
- A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome
- Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy
- Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
- Cohen syndrome combined with psychiatric symptoms: a case report
- Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy
- Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
- Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
- Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
- Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns
- Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
- Eg5 and Diseases: From the Well-Known Role in Cancer to the Less-Known Activity in Noncancerous Pathological Conditions
- From Insight to Eyesight: Unveiling the Secrets of the Insulin-Like Growth Factor Axis in Retinal Health
- Insulin-like growth factor 1 receptor mediates photoreceptor neuroprotection
- Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest
- MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms
- Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene
- Phenotype-Based Genetic Analysis Reveals Missing Heritability of <em>KIF11</em>-Related Retinopathy: Clinical and Genetic Findings
- Phenotype-Based Genetic Analysis Reveals Missing Heritability of KIF11-Related Retinopathy: Clinical and Genetic Findings
- Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder
- Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome
- Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients
- Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR