| A Novel Variant in VPS13B Underlying Cohen Syndrome. | A Novel Variant in VPS13B Underlying Cohen Syndrome.
Hussain A, Acharya A, Bharadwaj T, Genomics UOWCFM, Leal SM, Khaliq A, Mir A, Schrauwen I., Free PMC Article | 05/15/2023 |
| Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome. | Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M, Kühnisch J, Bachmann S, Seifert W., Free PMC Article | 06/18/2022 |
| A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. | A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A., Free PMC Article | 04/23/2022 |
| A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome. | A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.
Karimzadeh MR, Omidi F, Sahebalzamani A, Saeidi K. | 03/5/2022 |
| Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome. | Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
Lou G, Ke Y, Zhang Y, Liangjie G, Shama SA, Qi N, Qin L, Liao S, Zhao Y. | 11/22/2021 |
| Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. | Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations.
Lee YK, Lee SK, Choi S, Huh YH, Kwak JH, Lee YS, Jang DJ, Lee JH, Lee K, Kaang BK, Lim CS, Lee JA., Free PMC Article | 06/5/2021 |
| An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. | An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.
Boschann F, Fischer-Zirnsak B, Wienker TF, Holtgrewe M, Seelow D, Eichhorn B, Döhnert S, Fahsold R, Horn D, Graul-Neumann LM. | 04/3/2021 |
| Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors. | Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Lhussiez V, Dubus E, Cesar Q, Acar N, Nandrot EF, Simonutti M, Audo I, Lizé E, Nguyen S, Geissler A, Bouchot A, Ansar M, Picaud S, Thauvin-Robinet C, Olivier-Faivre L, Duplomb L, Da Costa R., Free PMC Article | 04/3/2021 |
| Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. | Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E. | 02/13/2021 |
| A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome. | A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Koehler K, Schuelke M, Hell AK, Schittkowski M, Huebner A, Brockmann K. | 01/9/2021 |
| Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome. | Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.
Alipour N, Salehpour S, Tonekaboni SH, Rostami M, Bahari S, Yassaee V, Miryounesi M, Ghafouri-Fard S. | 10/10/2020 |
| CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. | CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K. | 10/3/2020 |
| study presents two novel VPS13B mutations in Cohen syndrome (CS). The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS | Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.
Zhao S, Luo Z, Xiao Z, Li L, Zhao R, Yang Y, Zhong Y., Free PMC Article | 02/15/2020 |
| This study reveled VPS13B mutation in patient with intellectual deficiency-Cohen syndrome. | Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome.
Yang C, Hou M, Li Y, Sun D, Guo Y, Liu P, Liu Y, Song J, Zhang N, Wei W, Chen Z. | 08/10/2019 |
| Here, we present an 11-month-old girl with CS caused by two multi-exonic small deletions in VSP13B in trans. | The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.
Gillentine MA, Schaaf CP, Patel A., Free PMC Article | 12/2/2017 |
| VPS13B mutation is asociated with Cohen syndrome. | First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L., Free PMC Article | 12/2/2017 |
| Novel VPS13B deletion mutations in three large Pakistani Cohen Syndrome families suggests a Baloch variant with Autistic-Like features. | Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L., Free PMC Article | 09/5/2015 |
| This report emphasizes the value of a broad-based whole exome sequencing approach in disease gene identification in the syndromic retinal dystrophies, where all disease characteristics may not be present in young patients to allow a clinical diagnosis. | Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H. | 08/29/2015 |
| Association of COH1 with the Golgi complex is mediated by its interaction with RAB6 and is required for neurite outgrowth. | Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.
Seifert W, Kühnisch J, Maritzen T, Lommatzsch S, Hennies HC, Bachmann S, Horn D, Haucke V., Free PMC Article | 05/9/2015 |
| This observation emphasizes that VPS13B analysis should be performed in cases of congenital neutropenia associated with retinopathy, even in the absence of ID, therefore extending the VPS13B phenotype spectrum. | Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C. | 09/13/2014 |
| COH1 as a Golgi-associated matrix protein required for Golgi integrity. | Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC., Free PMC Article | 12/17/2011 |
| This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. | High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
Balikova I, de Ravel T, Ayuso C, Thienpont B, Casteels I, Villaverde C, Devriendt K, Fryns JP, Vermeesch JR. | 07/30/2011 |
| This study confirms that COH1 copy number variations are a frequent cause of Cohen syndrome and consist of intragenic deletions as well as duplications. | High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F., Free PMC Article | 02/12/2011 |
| VPS13B gene, via affecting bone mineral density and femoral neck cross-sectional geometric parameters, is a novel osteoporosis risk gene. | Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians.
Deng FY, Zhao LJ, Pei YF, Sha BY, Liu XG, Yan H, Wang L, Yang TL, Recker RR, Papasian CJ, Deng HW. | 01/22/2011 |
| VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years. | 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, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L. | 11/27/2010 |