Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X , DDX3X , and CASK genes in two patients with syndromic intellectual disability

(2022) Giorgia Catino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients

(2022) Yuwei Dai et al.   Frontiers in Molecular Neuroscience

The contribution of X-linked coding variation to severe developmental disorders

(2021) Hilary C. Martin et al.   Nature Communications

Prospective and detailed behavioral phenotyping in DDX3X syndrome

(2021) Lara Tang et al.   Molecular Autism

Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome

(2021) Andrea Boitnott et al.   BIOLOGICAL PSYCHIATRY

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

(2020) Ashley L. Lennox et al.   NEURON

Further delineation of DDX3X syndrome

(2019) Nicolas M. Chanes et al.   CLINICAL DYSMORPHOLOGY

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

(2019) Marcello Scala et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expansion of phenotype of DDX3X syndrome

(2019) Bryony Beal et al.   CLINICAL DYSMORPHOLOGY

The mechanism of RNA duplex recognition and unwinding by DEAD-box helicase DDX3X

(2019) He Song et al.   Nature Communications

Exportin-1-Dependent Nuclear Export of DEAD-box Helicase DDX3X is Central to its Role in Antiviral Immunity

(2019) Steven M. Heaton et al.   Cells

X-linked intellectual disability update 2017

(2018) Giovanni Neri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

(2018) Xia Wang et al.   Annals of Clinical and Translational Neurology

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

(2015) Lot Snijders Blok et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT