首页 | 本学科首页   官方微博 | 高级检索  
检索        


Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex,are associated with a neurodevelopmental disorder
Authors:Marije Meuwissen  Aline Verstraeten  Emmanuelle Ranza  Justyna Iwaszkiewicz  Maaike Bastiaansen  Ligia Mateiu  Merlijn Nemegeer  Josephina AN Meester  Alexandra Afenjar  Michelle Amaral  Diana Ballhausen  Sarah Barnett  Magalie Barth  Bob Asselbergh  Katrien Spaas  Bavo Heeman  Jennifer Bassetti  Patrick Blackburn  Bart Loeys
Institution:1. Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium;2. Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland;3. Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland;4. Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France;5. HudsonAlpha Institute for Biotechnology, Huntsville, AL;6. Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland;7. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN;8. Biochemistry and Genetics Department, University Hospital of Angers, Angers, France;9. Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium;10. Department of Biomedical Sciences, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium;11. Applied and Translational Neurogenomics, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium;12. Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY;13. Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN;14. Autism Brain & Behavior Laboratory, Department Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland;15. Ludwig Institute for Cancer Research, Department of Fundamental Oncology, Faculty of Biology and Medicine, Lausanne University, Epalinges, Lausanne, Switzerland;16. Medical Genetics, Sanford Broadway Clinic, Fargo, ND;17. Department of Genetics, AP-HP, La Pitié-Salpêtrière Hospital, Sorbonne Université, Paris;18. Neuropédiatrie, AP-HP, Hôpital d’enfants Armand Trousseau, Sorbonne Université, Paris;19. NYU Langone Medical Center, New York, NY;20. GeneDx, Gaithersburg, MD;21. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO;22. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;23. Institute of Human Genetics, Technical University München, Munich, Germany;24. Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany;25. Service de Génétique Médicale, Institut de Génétique Médicale d’Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg, France;26. Laboratoires de Diagnostic Génétique, Institut de Génétique Médicale d’Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg, France;27. Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands;28. Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, MA;1. Department of Medical Social Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL;2. The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute and Department of Pharmacy, School of Pharmacy, University of Washington, Seattle, WA;3. Department of Health Systems and Population Health, School of Public Health, University of Washington, Seattle, WA;1. Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;3. Faculty of Health Sciences, Ben Gurion University of the Negev, Be’er Sheva, Israel;4. Genetic Institute, Soroka University Medical Center, Be’er Sheva, Israel;5. Institute of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;1. Vanderbilt University School of Medicine, Medical Scientist Training Program, Vanderbilt University, Nashville, TN;2. Vanderbilt Center for Arrhythmia Research and Therapeutics (VanCART), Vanderbilt University Medical Center, Nashville, TN;3. Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN;4. Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN;5. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN;1. Section of Genetics and Metabolism, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR;2. Division of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX;3. College of Medicine, University of Arkansas for Medical Sciences School of Medicine, Little Rock, AR;4. Division of Pediatric Cardiology, Lucile Packard Children’s Hospital, Stanford Children’s Health, Stanford University School of Medicine, Palo Alto, CA;5. Division of Molecular Cardiovascular Biology, The Heart Institute, Cincinnati Children''s Hospital Medical Center, Cincinnati, OH;6. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH;7. Division of Cardiology, The Heart Institute, Cincinnati Children''s Hospital Medical Center, Cincinnati, OH;8. Division of Human Genetics, Cincinnati Children''s Hospital Medical Center, Cincinnati, OH;1. Center for Virology, Medical University of Vienna, Vienna, Austria;2. Department of Medicine IV, Clinic Favoriten, Vienna, Austria;3. Faculty of Medicine, Sigmund Freud University, Vienna, Austria;1. Memorial Sloan Kettering Cancer Center, New York, NY;2. Department of Pediatrics, Weill Cornell Medical College, New York, NY;3. Department of Population Health Sciences, Weill Cornell Medical College, New York, NY;4. Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA
Abstract:
Keywords:Autism spectrum disorder  Intellectual disability  Neurodevelopmental disorder  PAF1C
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号