Article
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Neuron - 9 Jun 2011
Levy Dan, Ronemus Michael, Yamrom Boris, Lee Yoon-ha, Leotta Anthony, Kendall Jude, Marks Steven, Lakshmi B, Pai Deepa, Ye Kenny, Buja Andreas, Krieger Abba, Yoon Seungtai, Troge Jennifer, Rodgers Linda, Iossifov Ivan, Wigler Michael
Abstract excerpt
To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited "ultrarare" duplications. Our results show that, relative to males, females have...
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