VPS13B, gene responsible for Cohen syndrome, regulates gingival epithelial barrier function via intracellular trafficking of coxsackievirus and adenovirus receptor.

[Analysis of variants of VPS13B gene in a child with Cohen syndrome].

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

VPS13B recruits lipid vesicles to promote mitochondrial fission and quality control.

Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.

Anomalous Origin of the Left Anterior Descending Artery From the Pulmonary Artery in an Infant With TMCO1 Mutation and Cohen Syndrome.

Periodontal Manifestations of Systemic Diseases.

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

[Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene].

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.

Syndromic retinitis pigmentosa.

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.

Stairway to the Golgi: Two paths VPS13B can go by.

Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?

Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.

VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1.

Cohen Syndrome With Complex Medical Complications: A Case Report.

Exploring the pathological mechanisms underlying Cohen syndrome.

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.

Cohen syndrome combined with psychiatric symptoms: a case report.

VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1.

Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients.

Ophthalmic findings in Cohen syndrome patient without subjective ophthalmic complaints: A case report.

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.

Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series.

Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

[Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].

A Novel Variant in VPS13B Underlying Cohen Syndrome.

Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome.

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.

Multiorgan neutrophilic inflammation in a Border Collie with "trapped" neutrophil syndrome.

Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder.

Cohen syndrome in two patients from China.

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

Bilateral Subluxation of Microspherophakic Lens in a Child with Cohen Syndrome.

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.

A Cohen syndrome patient whose muscle-relaxant effect may have been prolonged during general anesthesia: a case report.

Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene.

Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing.

A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report.

A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies.

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.

A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.

Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome.

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome.

Multi-directional Cranial Distraction Osteogenesis for Treating Sagittal Synostosis with Frontometaphyseal Dysplasia: A Case Report.

The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites.

Selective IgM deficiency: Follow-up and outcome.

Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome.

Variceal Bleed and Portal Hypertensive Gastropathy in a Noncirrhotic Patient with Isolated Splenomegaly.

Periodontal disorders in a cohort of patients with Cohen syndrome.

Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.

Optical coherence tomography findings in Cohen syndrome.

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

Early ocular findings in Cohen syndrome: case report and Canadian survey study.

[Use of biotherapy for psoriasis in a patient with Cohen syndrome].

Cystoid Macular Edema in a 10-Year-Old Boy With Cohen Syndrome.

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.

Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes.

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations.

Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.

A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse.

Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

[Proteins from Vps13 family: from molecular function to pathogenesis of neurodegenerative disorders].

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Cohen Syndrome: Review of the Literature.

Nonleaking cystoid macular edema in Cohen syndrome.

Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient.

[Psychomotor retardation with neutropenia for more than one year in a toddler].

Neonatal neuroblastoma 4s with diffuse liver metastases (Pepper syndrome) without an adrenal/extraadrenal primary identified on imaging.

Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome.

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.

[Pepper's syndrome: report of two cases at the Charles de Gaulle University Pediatric Hospital Center, Ouagadougou (Burkina Faso)].

Large animals as potential models of human mental and behavioral disorders.

Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21).

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Ethnic and population differences in the genetic predisposition to human obesity.

Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease.

The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.

Frontal cranioplasty in fronto-metaphyseal dysplasia.

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

[Hypercapnic respiratory failure. Pathophysiology, indications for mechanical ventilation and management].

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Testicular torsion in a patient with Cohen syndrome.

The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

[The 2nd conference 'Rare diseases not only in the curriculum', Szczecin - Wrocław, 26 and 30 May 2015].