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

被引：0

作者：

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

Matthew W. State

机构：

[1] Program on Neurogenetics,Department of Psychiatry, Department of Genetics

[2] Child Study Center,Department of Pediatrics

[3] Yale University School of Medicine,Department of Genetics

[4] 230 South Frontage Road,Department of Computer Science

[5] New Haven,Department of Neurobiology

[6] Connecticut 06520,Department of Neurosurgery

[7] USA,Department of Statistics

[8] Child Study Center,Department of Psychiatry and Human Genetics

[9] Yale University School of Medicine,undefined

[10] 230 South Frontage Road,undefined

[11] New Haven,undefined

[12] Connecticut 06520,undefined

[13] USA,undefined

[14] Neurogenetics Program,undefined

[15] UCLA,undefined

[16] 695 Charles E. Young Dr. South,undefined

[17] Los Angeles,undefined

[18] California 90095,undefined

[19] USA,undefined

[20] Howard Hughes Medical Institute,undefined

[21] Yale University School of Medicine,undefined

[22] Yale Center for Genome Analysis,undefined

[23] Yale University,undefined

[24] 51 Prospect Street,undefined

[25] New Haven,undefined

[26] Connecticut 06511,undefined

[27] USA,undefined

[28] Kavli Institute for Neuroscience,undefined

[29] Yale University School of Medicine,undefined

[30] 333 Cedar Street,undefined

[31] New Haven,undefined

[32] Connecticut 06520,undefined

[33] USA,undefined

[34] Center for Human Genetics and Genomics,undefined

[35] Program on Neurogenetics,undefined

[36] Yale University School of Medicine,undefined

[37] 333 Cedar Street,undefined

[38] New Haven,undefined

[39] Connecticut 06520,undefined

[40] USA,undefined

[41] Yale Center for Genome Analysis,undefined

[42] 300 Heffernan Drive,undefined

[43] Carnegie Mellon University,undefined

[44] 130 DeSoto Street,undefined

[45] Pittsburgh,undefined

[46] Pennsylvania 15213,undefined

[47] USA,undefined

[48] University of Pittsburgh School of Medicine,undefined

来源：

Nature | 2012年 / 485卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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

引用

页码：237 / 241

页数：4

共 50 条

[1] De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, Stephan J.
Murtha, Michael T.
Gupta, Abha R.
Murdoch, John D.
Raubeson, Melanie J.
Willsey, A. Jeremy
Ercan-Sencicek, A. Gulhan
DiLullo, Nicholas M.
Parikshak, Neelroop N.
Stein, Jason L.
Walker, Michael F.
Ober, Gordon T.
Teran, Nicole A.
Song, Youeun
El-Fishawy, Paul
Murtha, Ryan C.
Choi, Murim
Overton, John D.
Bjornson, Robert D.
Carriero, Nicholas J.
Meyer, Kyle A.
Bilguvar, Kaya
Mane, Shrikant M.
Sestan, Nenad
Lifton, Richard P.
Guenel, Murat
Roeder, Kathryn
Geschwind, Daniel H.
Devlin, Bernie
State, Matthew W.
[J]. NATURE, 2012, 485 (7397) : 237 - U124
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