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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability,Autism Spectrum Disorder,and Congenital Anomalies
Authors:Hanyin Cheng  Avinash V. Dharmadhikari  Sylvia Varland  Ning Ma  Deepti Domingo  Robert Kleyner  Alan F. Rope  Margaret Yoon  Asbjørg Stray-Pedersen  Jennifer E. Posey  Sarah R. Crews  Mohammad K. Eldomery  Zeynep Coban Akdemir  Andrea M. Lewis  Vernon R. Sutton  Jill A. Rosenfeld  Erin Conboy  Katherine Agre  Gholson J. Lyon
Affiliation:1. Baylor Genetics, Houston, TX, 77021, USA;2. Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway;3. Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA;4. Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA;5. Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA;6. School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia;7. Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA;8. Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR 97227, USA;9. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;10. Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, N-0424 Oslo, and Institute of Clinical Medicine, University of Oslo, N-0318 Oslo, Norway;11. Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA;12. Department of Pediatrics, Texas Children’s Hospital and Baylor College of Medicine, Houston, TX 77030, USA;13. Department of Clinical Genomics, Mayo Clinic, MN 55905, USA;14. The National Institute of Allergy and Infectious Disease, The National Institutes of Health, Bethesda, MD 20892, USA;15. Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA;16. Department of Surgery, Harvard Medical School, Boston, MA 02114, USA;17. Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA;18. Department of Surgery, Boston Children’s Hospital, Boston, MA 02115, USA;19. Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands;20. HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA;21. Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands;22. Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA;23. Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia;24. School of Women’s and Children’s Health, University of New South Wales, Sydney, NSW 2031, Australia;25. West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK;26. Division of Genetics and Metabolism, Nicklaus Children’s Hospital, Miami, FL 33155, USA;27. Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Western Bank, Sheffield S10 2TH, UK;28. Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy;29. Department of Psychiatry, University of Washington, Seattle WA, 98195, USA;30. Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France;31. Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia;32. Paediatric and Reproductive Genetics, South Australian Clinical Genetics Service, SA Pathology (at Women’s and Children’s Hospital), Adelaide, SA 5006, Australia;33. East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke’s Treatment Centre, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK;34. Department of Genetics and Molecular Pathology, SA Pathology, Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia;35. School of Biological Sciences, University of Adelaide, Adelaide, SA 5000, Australia;36. Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium;37. Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands;38. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK;39. Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK;40. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada;41. GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA;42. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA;43. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA;44. Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX 77030, USA;45. Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway;46. Department of Molecular Biology, University of Bergen, N-5020 Bergen, Norway;47. Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA;48. Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia
Abstract:
Keywords:NatA complex  N-terminal acetylation (NTA)  N-terminal acetyltransferases (NATs)  neurodevelopmental disorder  Ogden syndrome  intellectual disability  autism  congenital heart defects
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