Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Marla Mendes de Aquino, Miriam S. Reuter, Evdokia A. Anagnostou, Jeffrey R. MacDonald, Sangyoon Y. Ko, Paul W. Frankland, Jessica Charlebois, Mayada Elsabbagh, Leslie Granger, , Stephen W. Scherer
The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.
The American Journal of Human Genetics · Dec 19, 2024Peer-reviewedGenetic & Genomic Medicine