Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability,hypotonia, and epilepsy |
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| Affiliation: | 1. Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA;2. Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA;3. Division of Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA;4. Division of Neonatology and Newborn Medicine, Massachusetts General Hospital for Children, Boston, MA, USA;5. Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA;6. The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA;7. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA;8. Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK;9. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK;10. Department of Radiology, Boston Children’s Hospital, Boston, MA, USA;11. Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;12. Telethon Institute of Genetics and Medicine, Pozzuoli, Italy;13. Department of Translational Medicine, University of Naples "Federico II", Naples, Italy;14. Department of Clinical Genetics, Cook Children’s Hospital, Fort Worth, TX, USA;15. Department of Neurology and Epileptology, Cook Children’s Hospital, Fort Worth, TX 76104, USA;16. Neuroscience Institute, Center for Integrative Brain Research, Departments of Pediatric Neurology and Neurology Seattle Children’s Hospital, University of Washington, Seattle, WA, USA;17. Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy;18. Catholic University of the Sacred Heart, Faculty of Medicine and Surgery, Rome, Italy;19. Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;20. Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany;21. Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany;22. Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany;23. Praxis für Humangenetik Cottbus, 03048 Cottbus, Germany;24. Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany;25. Al Qrayya, Syria;27. Service d''Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, 1 Place de l''Hôpital, 67091, Strasbourg, France;28. Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, Nantes, France;29. Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;30. Pediatric Neurology Department, The Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel;31. Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel;32. Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA;33. Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA;34. Kaiser Permanente, San Francisco, CA, USA;35. Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kauno klinikos, Kaunas, Lithuania;36. Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway;37. Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK;38. Texas Children’s Hospital, Houston, TX, USA;39. Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA;40. McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA |
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