Ontology highlight
ABSTRACT:
SUBMITTER: Iyer J
PROVIDER: S-EPMC6026208 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Iyer Janani J Singh Mayanglambam Dhruba MD Jensen Matthew M Patel Payal P Pizzo Lucilla L Huber Emily E Koerselman Haley H Weiner Alexis T AT Lepanto Paola P Vadodaria Komal K Kubina Alexis A Wang Qingyu Q Talbert Abigail A Yennawar Sneha S Badano Jose J Manak J Robert JR Rolls Melissa M MM Krishnan Arjun A Girirajan Santhosh S
Nature communications 20180629 1
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 modulate expression of the phenotype. Using multiple quantitative methods in Drosophila RNAi lines, we identify a range of neurodevelopmental phenotyp ...[more]