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Title:

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Document type:
Journal Article
Author(s):
Marcogliese, Paul C; Deal, Samantha L; Andrews, Jonathan; Harnish, J Michael; Bhavana, V Hemanjani; Graves, Hillary K; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Chao, Yu-Hsin; Hull, Brooke; Lee, Pei-Tseng; Pan, Hongling; Bhadane, Pradnya; Huang, Mei-Chu; Longley, Colleen M; Chao, Hsiao-Tuan; Chung, Hyung-Lok; Haelterman, Nele A; Kanca, Oguz; Manivannan, Sathiya N; Rossetti, Linda Z; German, Ryan J; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Ann...     »
Abstract:
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection an...     »
Journal title abbreviation:
Cell Rep
Year:
2022
Journal volume:
38
Journal issue:
11
Fulltext / DOI:
doi:10.1016/j.celrep.2022.110517
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/35294868
Print-ISSN:
2211-1247
TUM Institution:
Institut für Humangenetik
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