Drosophila Functional Screening of De Novo Variants in Autism Uncovers Damaging Variants and Facilitates Discovery of Rare Neurodevelopmental Diseases

Paul C. Marcogliese,Samantha L. Deal,Jonathan Andrews,J. Michael Harnish,V. Hemanjani Bhavana,Hillary K. Graves,Sharayu Jangam,Xi Luo,Ning Liu,Danqing Bei,Yu-Hsin Chao,Brooke Hull,Pei-Tseng Lee,Hongling Pan,Pradnya Bhadane,Mei-Chu Huang,Colleen M. Longley,Hsiao-Tuan Chao,Hyung-lok Chung,Nele A. Haelterman,Oguz Kanca,Sathiya N. Manivannan,Linda Z. Rossetti,Ryan J. German,Amanda Gerard,Eva Maria Christina Schwaibold,Sarah Fehr,Renzo Guerrini,Annalisa Vetro,Eleina England,Chaya N. Murali,Tahsin Stefan Barakat,Marieke F. van Dooren,Martina Wilke,Marjon van Slegtenhorst,Gaetan Lesca,Isabelle Sabatier,Nicolas Chatron,Catherine A. Brownstein,Jill A. Madden,Pankaj B. Agrawal,Boris Keren,Thomas Courtin,Laurence Perrin,Melanie Brugger,Timo Roser,Steffen Leiz,Frederic Tran Mau-Them,Julian Delanne,Elena Sukarova-Angelovska,Slavica Trajkova,Erik Rosenhahn,Vincent Strehlow,Konrad Platzer,Roberto Keller,Lisa Pavinato,Alfredo Brusco,Jill A. Rosenfeld,Ronit Marom,Michael F. Wangler,Shinya Yamamoto

Cell Reports（2022）

Cited 12|Views29

Key words

autism spectrum disorder,Drosophila melanogaster,functional genomics,GLRA2,GluClalpha,humanization,missense variants,rare genetic diseases,T2A-GAL4,TG4,undiagnosed diseases

AI Read Science

Must-Reading Tree

Example

Generate MRT to find the research sequence of this paper

Chat Paper

Summary is being generated by the instructions you defined