Genetic Variants in DDX53 Contribute to Autism Spectrum Disorder Associated with the Xp22.11 Locus
Marcello Scala,Clarrisa A. Bradley,Jennifer L. Howe,Brett Trost, Nelson Bautista Salazar,Carole Shum, Marla Mendes,Miriam S. Reuter,Evdokia Anagnostou,Jeffrey R. Macdonald,Sangyoon Y. Ko,Paul W. Frankland, Jessica Charlebois,Mayada Elsabbagh,Leslie Granger,George Anadiotis,Verdiana Pullano,Alfredo Brusco,Roberto Keller,Sarah Parisotto, Helio F. Pedro, Laina Lusk, Pamela Pojomovsky Mcdonnell, Ingo Helbig, Sureni Mullegama, Undiagnosed Diseases Undiagnosed Dis Network, Emilie D. Douine, Rosario Ivetth Corona, Bianca E. Russell, Stanley F. Nelson, Claudio Graziano, Maria Schwab, Laurie Simone, Federico Zara, Stephen W. Scherer AMERICAN JOURNAL OF HUMAN GENETICS（2025）
关键词
DDX53,RNA helicase,Xp22.11 locus,autism,autism spectrum disorder,neurodevelopmental disorders,MSSNG,SFARI,PTCHD1-AS,non-coding RNA
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