Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

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作者
Behrang Mahjani
Silvia De Rubeis
Christina Gustavsson Mahjani
Maureen Mulhern
Xinyi Xu
Lambertus Klei
F. Kyle Satterstrom
Jack Fu
Michael E. Talkowski
Abraham Reichenberg
Sven Sandin
Christina M. Hultman
Dorothy E. Grice
Kathryn Roeder
Bernie Devlin
Joseph D. Buxbaum
机构
[1] Icahn School of Medicine at Mount Sinai,Seaver Autism Center for Research and Treatment
[2] Icahn School of Medicine at Mount Sinai,Department of Psychiatry
[3] Karolinska Institutet,Department of Medical Epidemiology and Biostatistics
[4] Icahn School of Medicine at Mount Sinai,Friedman Brain Institute
[5] Icahn School of Medicine at Mount Sinai,The Mindich Child Health and Development Institute
[6] University of Pittsburgh School of Medicine,Department of Psychiatry
[7] Broad Institute of MIT and Harvard,Stanley Center for Psychiatric Research
[8] Broad Institute of MIT and Harvard,Program in Medical and Population Genetics
[9] Massachusetts General Hospital,Center for Genomic Medicine
[10] Massachusetts General Hospital and Harvard Medical School,Department of Neurology
[11] Carnegie Mellon University,Department of Statistics
[12] Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic Sciences
[13] Icahn School of Medicine at Mount Sinai,Department of Neuroscience
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关键词
Autism spectrum disorder; Copy number variant; Single nucleotide variant; Intellectual disability; Whole exome sequencing; PAGES;
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