A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic...
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
About this item
Full title
Author / Creator
Antaki, Danny , Guevara, James , Maihofer, Adam X. , Klein, Marieke , Gujral, Madhusudan , Grove, Jakob , Carey, Caitlin E. , Hong, Oanh , Arranz, Maria J. , Hervas, Amaia , Corsello, Christina , Vaux, Keith K. , Muotri, Alysson R. , Iakoucheva, Lilia M. , Courchesne, Eric , Pierce, Karen , Gleeson, Joseph G. , Robinson, Elise B. , Nievergelt, Caroline M. and Sebat, Jonathan
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consistent with a liability threshold that differs by sex...
Alternative Titles
Full title
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
Authors, Artists and Contributors
Author / Creator
Guevara, James
Maihofer, Adam X.
Klein, Marieke
Gujral, Madhusudan
Grove, Jakob
Carey, Caitlin E.
Hong, Oanh
Arranz, Maria J.
Hervas, Amaia
Corsello, Christina
Vaux, Keith K.
Muotri, Alysson R.
Iakoucheva, Lilia M.
Courchesne, Eric
Pierce, Karen
Gleeson, Joseph G.
Robinson, Elise B.
Nievergelt, Caroline M.
Sebat, Jonathan
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9474668
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9474668
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/s41588-022-01064-5
