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Paper Details

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
168
2015
DDX3X, DDX3X missense variants, DDX3X mutations, DDX3X variant, ID, Intellectual disability, Unexplained Intellectual Disability, Wnt, X chromosome, corpus callosum hypoplasia, epilepsy, humans, hypotonia, movement disorders, zebrafish
Author NameAffiliation
Erik C MadsenCenter for Human Disease Modeling, Duke University Medical Center
Christian GilissenRadboud University Medical Center
Megan T Cho
Evan E EichlerUniversity of Washington, USA Howard Hughes Medical Institute
Evan E EichlerUniversity of Washington, USA Howard Hughes Medical Institute
Sally Ann LynchNational Centre for Medical Genetics, Temple Street Children's Hospital
Perciliz L TanCenter for Human Disease Modeling, Duke University Medical Center
Eden Haverfield
Kevin A StraussClinic for Special Children, Franklin & Marshall College
Karlla W BrigattiClinic for Special Children, Franklin & Marshall College
Elaine H ZackaiChildren's Hospital of Philadelphia
Margaret HarrChildren's Hospital of Philadelphia
Han G BrunnerRadboud University Medical Center
Wendy K ChungColumbia University Medical Center
Wendy K ChungColumbia University Medical Center
Sarju G MehtaCambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center
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Release 1.2