Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletion
Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletion
About this item
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Author / Creator
Iyer, Janani , Mayanglambam Dhruba Singh , Jensen, Matthew , Patel, Payal , Pizzo, Lucilla , Huber, Emily , Haley Koerselman , Weiner, Alexis T , Lepanto, Paola , Vadodaria, Komal , Kubina, Alexis , Wang, Qingyu , Talbert, Abigail , Yennawar, Sneha , Badano, Jose , Manak, J Robert , Rolls, Melissa M , Krishnan, Arjun and Girirajan, Santhosh
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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More information
Scope and Contents
Contents
As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive CNVs complicates disease gene discovery and functional evaluation. Here, we propose a complex interaction model for pathogenicity of the autism-associated 16p11.2 deletion, where CNV genes interact with each other in conserved pathways to...
Alternative Titles
Full title
Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletion
Authors, Artists and Contributors
Author / Creator
Mayanglambam Dhruba Singh
Jensen, Matthew
Patel, Payal
Pizzo, Lucilla
Huber, Emily
Haley Koerselman
Weiner, Alexis T
Lepanto, Paola
Vadodaria, Komal
Kubina, Alexis
Wang, Qingyu
Talbert, Abigail
Yennawar, Sneha
Badano, Jose
Manak, J Robert
Rolls, Melissa M
Krishnan, Arjun
Girirajan, Santhosh
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2071174147
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2071174147
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/185355
How to access this item
https://www.proquest.com/docview/2071174147?pq-origsite=primo&accountid=13902
