Bi-Allelic Variants in OLA1 Cause a Neurodevelopmental Disorder with Joint Hypermobility
| dc.contributor.author | Cevik, Sebiha | |
| dc.contributor.author | Alzahrani, Fatema | |
| dc.contributor.author | Sezer, Abdullah | |
| dc.contributor.author | AlAbdi, Lama | |
| dc.contributor.author | Demir, Zanyar | |
| dc.contributor.author | Abdullah, Nor Linda | |
| dc.contributor.author | Alkuraya, Fowzan S. | |
| dc.date.accessioned | 2026-04-21T10:55:39Z | |
| dc.date.available | 2026-04-21T10:55:39Z | |
| dc.date.issued | 2026 | |
| dc.description.sponsorship | We are grateful to all probands and families whose participation in the study enabled the data collection and the analyses. The research was supported by the Bioscience Core Lab, the ACL Proteomics Lab, and the Imaging and Characterization Core Lab at King Abdullah University of Science and Technology (KAUST) in Thuwal, Saudi Arabia. The research reported in this publication by S.T.A. and I.S. was supported by funding from King Abdullah University of Science and Technology (KAUST) – KAUST Center of Excellence for Smart Health (KCSH), under award number 5932 . | |
| dc.description.sponsorship | ACL Proteomics Lab; King Abdullah University of Science and Technology, KAUST, (5932) | |
| dc.identifier.doi | 10.1016/j.ajhg.2026.03.001 | |
| dc.identifier.issn | 0002-9297 | |
| dc.identifier.scopus | 2-s2.0-105034501631 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12573/5906 | |
| dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2026.03.001 | |
| dc.language.iso | en | |
| dc.publisher | Cell Press | |
| dc.relation.ispartof | American Journal of Human Genetics | |
| dc.rights | info:eu-repo/semantics/closedAccess | |
| dc.subject | C. Elegans | |
| dc.subject | Joint Hypermobility | |
| dc.subject | OLA1 | |
| dc.subject | Cell Adhesion | |
| dc.subject | RNA-seq | |
| dc.title | Bi-Allelic Variants in OLA1 Cause a Neurodevelopmental Disorder with Joint Hypermobility | en_US |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| gdc.author.scopusid | 57197765469 | |
| gdc.author.scopusid | 23471639400 | |
| gdc.author.scopusid | 59796641300 | |
| gdc.author.scopusid | 6602397795 | |
| gdc.author.scopusid | 60549881300 | |
| gdc.author.scopusid | 57761636800 | |
| gdc.author.scopusid | 57212401508 | |
| gdc.description.department | Abdullah Gül University | |
| gdc.description.departmenttemp | [AlAbdi L.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Sezer A.] Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, 06170, Turkey; [Alzahrani F.] Precision Medicine Laboratory Department, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; [Cevik S.] Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gül University, Kayseri, Turkey; [Demir Z.] Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gül University, Kayseri, Turkey; [Abdullah N.L.] Biomedical Science Division, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia; [Durukan Ö.] İntergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara, Turkey; [Dallı E.] İntergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara, Turkey; [Hashem M.O.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Abuyousef O.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Aljamal B.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Helaby R.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Radwan M.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Jaafar A.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Alshidi T.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia; [Salem I.] KAUST Center for Smart Health, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia; [Hamid H.] Lifera Omics, Riyadh, 13519, Saudi Arabia; [Alhaddad B.] Lifera Omics, Riyadh, 13519, Saudi Arabia; [Bakur K.] Lifera Omics, Riyadh, 13519, Saudi Arabia; [Taşdelen E.] Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, 06170, Turkey; [Kılıç M.] Department of Pediatric Metabolism, Ankara Etlik City Hospital, Ankara, 06170, Turkey; [Al-Owain M.] Medical Genomics Department, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; [Alhashem A.] College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia, Seha Virtual Hospital, Ministry of Health, Riyadh, 12382, Saudi Arabia, Department of Genetics and Metabolics, King Fahad Specialist Hospital, Dammam, 32253, Saudi Arabia; [Bratland E.] Department of Medical Genetics, Haukeland University Hospital, Bergen, 5009, Norway; [Paulsen J.] Department of Medical Genetics, Haukeland University Hospital, Bergen, 5009, Norway, Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim, 7006, Norway; [Houge Douzgos G.] Department of Medical Genetics, Haukeland University Hospital, Bergen, 5009, Norway; [Politi A.R.] Precision Genomics Laboratory, Institute for Genomic Medicine, Columbia University Medical Center, New York, 10032, NY, United States; [Uguen K.] Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France, University Brest, INSERM, EFS, UMR 1078, GGB, Brest, 29200, France, Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France; [Masson E.] Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France, University Brest, INSERM, EFS, UMR 1078, GGB, Brest, 29200, France; [Audebert S.] Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France, Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France; [AlAnzi T.] Women and Children’s Health Department Johns Hopkins Aramco Healthcare Center, Dhahran, Saudi Arabia; [Arold S.T.] Biomedical Science Division, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia; [Ergin B.] İntergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara, Turkey; [Ibrahim L.A.] Biomedical Science Division, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia, KAUST Center for Smart Health, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia; [Kaplan O.I.] Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gül University, Kayseri, Turkey; [Alkuraya F.S.] Department of Translational Genomics, Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia, Lifera Omics, Riyadh, 13519, Saudi Arabia, College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia | |
| gdc.description.endpage | 766 | |
| gdc.description.issue | 4 | |
| gdc.description.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | |
| gdc.description.startpage | 754 | |
| gdc.description.volume | 113 | |
| gdc.identifier.pmid | 41887223 | |
| gdc.index.type | PubMed | |
| gdc.index.type | Scopus | |
| gdc.virtual.author | Çevik Kaplan, Sebiha | |
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