Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases - 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; et al. (Cell reports (Cambridge), 2022)
Keywords: Animals; autism spectrum disorder; Autism Spectrum Disorder - genetics; Autism Spectrum Disorder - pathology; Autistic Disorder - genetics; Drosophila - genetics; Drosophila melanogaster; functional genomics; Genetic Predisposition to Disease; GLRA2; GluClalpha; humanization; Humans; missense variants; Neurodevelopmental Disorders - genetics; rare genetic diseases; Receptors, Glycine - genetics; T2A-GAL4; TG4; undiagnosed diseases; TG4; GLRA2; humanization; GluClalpha; undiagnosed diseases; functional genomics; rare genetic diseases; autism spectrum disorder; T2A-GAL4; Drosophila melanogaster; missense variants