Associated Papers
DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.
Fiorenzani C et al.
Trends in Genetics : Tig, 2025
Optical genome mapping reveals diverse mechanisms of cyclin activation in mantle cell lymphomas lacking IGH::CCND1.
Tang G et al.
Human Pathology, 2025
Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.
Mosti F et al.
Plos Genetics, 2025
Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.
Owens MC et al.
Nature Communications, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ et al.
Nature Communications, 2023
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
Rafat K et al.
Molecular Syndromology, 2023
Mutant forms of DDX3X with diminished catalysis form hollow condensates that exhibit sex-specific regulation.
Owens MC et al.
Biorxiv : the Preprint Server for Biology, 2023
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Gadek M et al.
Trends in Molecular Medicine, 2023
Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.
Guan T et al.
Frontiers in Oncology, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
DDX3 depletion represses translation of mRNAs with complex 5' UTRs.
Calviello L et al.
Nucleic Acids Research, 2021
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Tang L et al.
Molecular Autism, 2021
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe.
Iqbal S et al.
Nucleic Acids Research, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Lennox AL et al.
Neuron, 2020
A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review.
Chen Y et al.
Frontiers in Pediatrics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Al-Nabhani M et al.
Clinical Genetics, 2018
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L et al.
American Journal of Human Genetics, 2015