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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

✍ Scribed by O'Roak, Brian J. (author);Vives, Laura (author);Fu, Wenqing (author);Egertson, Jarrett D. (author);Stanaway, Ian B. (author);Phelps, Ian G. (author);Carvill, Gemma (author);Kumar, Akash (author);Lee, Choli (author);Ankenman, Katy (author);Munson, Jeff (author);Hiatt, Joseph B. (author);Turner, Emily H. (author);Levy, Roie (author);O'Day, Diana R. (author);Krumm, Niklas (author);Coe, Bradley P. (author);Martin, Beth K. (author);Borenstein, Elhanan (author);Nickerson, Deborah A. (author);Mefford, Heather C. (author);Doherty, Dan (author);Akey, Joshua M. (author);Bernier, Raphael (author);Eichler, Evan E. (author);Shendure, Jay (author)

Book ID
118015426
Publisher
American Association for the Advancement of Science
Year
2012
Tongue
English
Weight
645 KB
Volume
338
Category
Article
ISSN
0036-8075

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## Abstract Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome‐wide significance at D7S530 on 7q32. We searched a candidate imprinted region at this location for genetic var