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Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

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...

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Detalles Bibliográficos
Autores principales: Iyer, Janani, Singh, Mayanglambam Dhruba, Jensen, Matthew, Patel, Payal, Pizzo, Lucilla, Huber, Emily, Koerselman, Haley, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026208/
https://www.ncbi.nlm.nih.gov/pubmed/29959322
http://dx.doi.org/10.1038/s41467-018-04882-6