Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
Year: 2024
Type: article
Study design: Observational Study
Authors: Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille, Marta Biderman Waberski, Tadahiro Mitani, Ilka Huber, Kristian Tveten, Øystein L. Holla, Øyvind L. Busk, Henry Houlden, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Reza Shervin Badv, Paria Najarzadeh Torbati, Fatemeh Eghbal, Javad Akhondian, Ayat Al Safar, Abdulrahman Alswaid, Giovanni Zifarelli, Peter Bauer, Dana Marafi, Jawid M. Fatih, Kevin Huang, Cassidy Petree, Daniel G. Calame, Charlotte von der Lippe, Fowzan S. Alkuraya, Sami Wali, James R. Lupski, Gaurav K. Varshney, Jennifer E. Posey, Davut Pehlivan
Institutions: Baylor College of Medicine, Oklahoma Medical Research Foundation, UCL Queen Square Institute of Neurology, University College London, İstanbul Başakşehir Çam ve Sakura Şehir Hastanesi, Riyadh Armed Forces Hospital, Université de Bordeaux, Inserm, Centre Hospitalier Universitaire de Bordeaux, Maladies Rares: Génétique et Métabolisme, Inova Health System, Sørlandet Hospital Arendal, Telemark Hospital, St George's, University of London, Mashhad University of Medical Sciences, Children's Medical Center, Tehran University of Medical Sciences, King Fahd Hospital of the University, Imam Abdulrahman Bin Faisal University, King Saud bin Abdulaziz University for Health Sciences, Centogene (Germany), Kuwait University, Texas Children's Hospital, King Faisal Specialist Hospital & Research Centre
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funders: Foundation for the National Institutes of Health, Muscular Dystrophy Association, Uehara Memorial Foundation, Oklahoma Medical Research Foundation, Rett Syndrome Research Trust, Baylor-Hopkins Center for Mendelian Genomics, National Institutes of Health, Office of the Director, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke
Awards: G1462636319, Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease, Development of scalable methods for rapid phenotyping and functional testing of variants, G530561446, Baylor Johns Hopkins Center for Mendelian Genetics, G6069521127, G613122387, Medical Genetics Research Fellowship Program, STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE, Comprehensive Deep Phenotyping and Multi-omics to Develop Clinical and Molecular Biomarkers for MeCP2-related Diseases
OpenAlex ID: W4403825049