Recent Publications
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DDX3X-Related Neurodevelopmental Disorder – Research Paper
Learn more via the paper here. GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial […]
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Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease
Originally posted on STAT by Rebecca Robbins on February 3, 2020 SAN FRANCISCO — When Facebook founder Mark Zuckerberg and his spouse Dr. Priscilla Chan in 2016 vowed to get all diseases […]
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Funding Available – Request For DDX3X Research Applications
Request for DDX3X Research Applications The DDX3X Foundation, a nonprofit organization dedicated to supporting research to advance theunderstanding and treatment of DDX3X mutations, announces the availability of funds to support […]
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Strong Community Drives Support For DDX3X Research
Originally posted on Duke University’s Regeneration Next Mariah Hoye, a Regeneration Next Fellow and Postdoctoral Research associate in the laboratory of Debra Silver, shares her experience at the 4th annual DDX3X […]
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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
Read the full article DDX3X (Xp11.4) encodes a DEAD-box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X-linked intellectual disability (ID) (MRX102, MIM: 300958). The […]
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Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
Read the full article De novo germline mutations in the RNA helicase DDX3X account for 1-3% of unexplained intellectual disability (ID) cases in females, and are associated with autism, brain malformations, and epilepsy. […]
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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
Read the full article Funding Information Research reported in this manuscript was supported by the NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under Award Number […]
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Read the full article Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the […]
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Dr. Sherr at University of California, San Francisco
As a pediatric neurologist, Elliott Sherr, M.D., Ph.D., has spent a significant portion of his career studying the brains of children with malformations. When a beautiful young girl presented in his clinic with dysgenesis of the corpus callosum, he went above and beyond to help her family find answers – which ended up being a mutation of her DDX3X gene.
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Genetic testing solved Stilwell family’s medical mystery
“Everything’s fine, everything’s normal.” That’s what a Stilwell family heard time and time again about their daughter. But everything wasn’t normal and deep down, they knew it. It was just a matter of finding the right test to back up their hunch.
