De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan J. Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Nicholas M. DiLullo, Neelroop N. Parikshak, Jason L. Stein, Michael F. Walker, Gordon T. Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan C. Murtha, Murim Choi, John D. Overton, Robert D. Bjornson, Nicholas J. Carriero, Kyle A. Meyer, Kaya Bilguvar, Shrikant M. Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind (), Bernie Devlin () and Matthew W. State ()
Additional contact information
Stephan J. Sanders: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Michael T. Murtha: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Abha R. Gupta: Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
John D. Murdoch: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Melanie J. Raubeson: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
A. Jeremy Willsey: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
A. Gulhan Ercan-Sencicek: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Nicholas M. DiLullo: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Neelroop N. Parikshak: Neurogenetics Program, UCLA, 695 Charles E. Young Dr. South, Los Angeles, California 90095, USA
Jason L. Stein: Neurogenetics Program, UCLA, 695 Charles E. Young Dr. South, Los Angeles, California 90095, USA
Michael F. Walker: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Gordon T. Ober: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Nicole A. Teran: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Youeun Song: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Paul El-Fishawy: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Ryan C. Murtha: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Murim Choi: Howard Hughes Medical Institute, Yale University School of Medicine
John D. Overton: Howard Hughes Medical Institute, Yale University School of Medicine
Robert D. Bjornson: Yale Center for Genome Analysis, Yale University, 51 Prospect Street, New Haven, Connecticut 06511, USA
Nicholas J. Carriero: Yale Center for Genome Analysis, Yale University, 51 Prospect Street, New Haven, Connecticut 06511, USA
Kyle A. Meyer: Kavli Institute for Neuroscience, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA
Kaya Bilguvar: Center for Human Genetics and Genomics, Program on Neurogenetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA
Shrikant M. Mane: Yale Center for Genome Analysis, 300 Heffernan Drive
Nenad Šestan: Kavli Institute for Neuroscience, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA
Richard P. Lifton: Howard Hughes Medical Institute, Yale University School of Medicine
Murat Günel: Center for Human Genetics and Genomics, Program on Neurogenetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA
Kathryn Roeder: Carnegie Mellon University, 130 DeSoto Street, Pittsburgh, Pennsylvania 15213, USA
Daniel H. Geschwind: Neurogenetics Program, UCLA, 695 Charles E. Young Dr. South, Los Angeles, California 90095, USA
Bernie Devlin: University of Pittsburgh School of Medicine
Matthew W. State: Program on Neurogenetics, Child Study Center, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA

Nature, 2012, vol. 485, issue 7397, 237-241

Abstract: Rare de novo single nucleotide variants in brain-expressed genes are found to be associated with autism spectrum disorders and to carry large effects.

Date: 2012
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DOI: 10.1038/nature10945

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