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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Authors:Lindsay C. Burrage  John J. Reynolds  Nissan Vida Baratang  Jennifer B. Phillips  Jeremy Wegner  Ashley McFarquhar  Martin R. Higgs  Audrey E. Christiansen  Denise G. Lanza  John R. Seavitt  Mahim Jain  Xiaohui Li  David A. Parry  Vandana Raman  David Chitayat  Ivan K. Chinn  Alison A. Bertuch  Lefkothea Karaviti  Brendan Lee
Affiliation:1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;2. Texas Children’s Hospital, Houston, TX 77030, USA;3. Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK;4. Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T1J4, Canada;5. Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA;6. Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA;7. Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA;8. Medical Research Council Institute of Genetics & Molecular Medicine, the University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK;9. Division of Pediatric Endocrinology and Diabetes, University of Utah, Salt Lake City, UT 84112, USA;10. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON M5G 1Z5, Canada;11. Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada;12. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA;13. Division of Pediatric Immunology, Allergy, and Rheumatology, Texas Children’s Hospital, Houston, TX 77030, USA;14. Division of Diabetes and Endocrinology, Texas Children’s Hospital, Houston, TX 77030, USA;15. Department of Pediatric Radiology, Texas Children’s Hospital, Houston, TX 77030, USA;16. Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA;17. Seattle Children’s Hospital, Seattle, WA 98195, USA;18. Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA 98195, USA;19. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, University of Melbourne, Parkville, VIC 3052, Australia;20. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;21. Baylor Genetics, Houston, TX 77030, USA;22. Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA;23. Service of Genetic Medicine, University of Geneva Medical School, Geneva University Hospitals, 1205 Geneva, Switzerland;24. Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris 75015, France;25. Associated Regional and University Pathologists Laboratories, Salt Lake City, UT 84108, USA;26. Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA;27. Current affiliation: Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York Presbyterian, New York, NY 10032, USA;28. Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil;29. Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, SP 05508-0900, Brazil;30. Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, KS 66160, USA;31. Department of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada;32. Department of Allergy and Immunology, Sidra Medicine, Hamad Medical Corporation, Weill Cornell Medicine, Qatar, Doha, Qatar;33. Department of Molecular, Cell, and Developmental Biology and Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, CA 90095, USA;34. Department of Orthopaedic Surgery, Department of Human Genetics and Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, Los Angeles, CA 90095, USA;35. Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK;36. North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK;37. Department of Oncology and Metabolism, Academic Unit of Child Health, University of Sheffield, Sheffield S10 2TH, UK;38. Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84112, USA
Abstract:
Keywords:exome sequencing  DNA replication  DNA repair  SPONASTRIME dysplasia  skeletal dysplasia
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