Association between Microdeletion and Microduplication at 16p11.2 and Autism
Association between Microdeletion and Microduplication at 16p11.2 and Autism
About this item
Full title
Author / Creator
Weiss, Lauren A , Shen, Yiping , Korn, Joshua M , Arking, Dan E , Miller, David T , Fossdal, Ragnheidur , Saemundsen, Evald , Stefansson, Hreinn , Stefansson, Kari , Ferreira, Manuel A.R , Green, Todd , Platt, Orah S , Ruderfer, Douglas M , Walsh, Christopher A , Altshuler, David , Chakravarti, Aravinda , Tanzi, Rudolph E , Santangelo, Susan L , Gusella, James F , Sklar, Pamela , Wu, Bai-Lin , Daly, Mark J and Autism Consortium
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
The causes of autism are largely unknown. This study establishes that aberrant dosage of a large genomic segment is associated with autism spectrum disorder. Deletion or duplication of the segment, which encompasses 25 known genes, was present in approximately 1% of case subjects and less than 0.1% of unscreened control subjects.
This study esta...
Alternative Titles
Full title
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Authors, Artists and Contributors
Author / Creator
Shen, Yiping
Korn, Joshua M
Arking, Dan E
Miller, David T
Fossdal, Ragnheidur
Saemundsen, Evald
Stefansson, Hreinn
Stefansson, Kari
Ferreira, Manuel A.R
Green, Todd
Platt, Orah S
Ruderfer, Douglas M
Walsh, Christopher A
Altshuler, David
Chakravarti, Aravinda
Tanzi, Rudolph E
Santangelo, Susan L
Gusella, James F
Sklar, Pamela
Wu, Bai-Lin
Daly, Mark J
Autism Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_70299863
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70299863
Other Identifiers
ISSN
0028-4793,1533-4406
E-ISSN
1533-4406
DOI
10.1056/NEJMoa075974
