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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability,Ataxia, and Facial Dysmorphism
Authors:Frederike Leonie Harms  Katta M. Girisha  Andrew A. Hardigan  Fanny Kortüm  Anju Shukla  Malik Alawi  Ashwin Dalal  Lauren Brady  Mark Tarnopolsky  Lynne M. Bird  Sophia Ceulemans  Martina Bebin  Kevin M. Bowling  Susan M. Hiatt  Edward J. Lose  Michelle Primiano  Wendy K. Chung  Jane Juusola  Kerstin Kutsche
Affiliation:1. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany;2. Department of Medical Genetics, Kasturba Medical College, Manipal University, 576104 Manipal, India;3. HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA;4. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA;5. Bioinformatics Service Facility, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany;6. Center for Bioinformatics, University of Hamburg, 20246 Hamburg, Germany;7. Virus Genomics, Heinrich Pette Institute, Leibniz Institute for Experimental Virology, 20246 Hamburg, Germany;8. Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, 500001 Hyderabad, Telangana, India;9. Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada;10. Department of Pediatrics, University of California, San Diego, San Diego, CA 92123, USA;11. Division of Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, CA 92123, USA;12. Department of Neurology, University of Alabama at Birmingham, Birmingham, AL35294, USA;13. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA;14. Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA;15. GeneDx, Gaithersburg, MD 20877, USA;16. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;17. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;18. Cook Children’s Genetic Clinic, Fort Worth, TX 76102, USA;19. Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, 15258 Al-Ain, United Arab Emirates;20. Section of Medical Genetics, Children’s Hospital, King Fahad Medical City, 11564 Riyadh, Saudi Arabia;21. Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France;22. INSERM UMR-S 957, 44035 Nantes, France
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