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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders
Authors:Elaine T Lim  Soumya Raychaudhuri  Stephan J Sanders  Christine Stevens  Aniko Sabo  Daniel G MacArthur  Benjamin M Neale  Andrew Kirby  Douglas M Ruderfer  Menachem Fromer  Monkol Lek  Li Liu  Jason Flannick  Stephan Ripke  Uma Nagaswamy  Donna Muzny  Jeffrey G Reid  Alicia Hawes  Mark J Daly
Institution:1. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA;2. Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA;3. Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA;4. Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA;5. Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA;6. Departments of Genetics and Medicine, Harvard Medical School, Boston, MA 02115, USA;7. Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA;8. Department of Psychiatry, Harvard Medical School, Boston, MA 02115, USA;9. Division of Immunology, Allergy, and Rheumatology, Brigham and Women’s Hospital, Boston, MA 02115, USA;10. Departments of Psychiatry and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA;11. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;12. Division of Psychiatric Genomics, Mount Sinai School of Medicine, New York, NY 10029, USA;13. Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA;14. Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA;15. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA;16. Department of Neuroscience, Mount Sinai School of Medicine, New York, NY 10029, USA;17. Friedman Brain Institute, Mount Sinai School of Medicine, New York, NY 10029, USA;18. Department of Statistics and Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA;19. Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA 19104, USA;20. Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;21. Human Genetics Center, University of Texas Health Science Center at Houston, TX 77030, USA;22. Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60612, USA;23. Departments of Molecular Physiology & Biophysics and Psychiatry, Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA;24. Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA
Abstract:
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