Associated Papers
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
An in-cell helicase reporter system for quantifying DDX3X and DDX3Y activities.
Poh ZS et al.
Bioengineering & Translational Medicine, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.
Owens MC et al.
Nature Communications, 2024
The Role of the RNA Helicase DDX3X in Medulloblastoma Progression.
Swarup A et al.
Biomolecules, 2024
EBV+ nodal T/NK-cell lymphoma associated with clonal hematopoiesis and structural variations of the viral genome.
Kato S et al.
Blood Advances, 2024
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ et al.
Nature Communications, 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
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.
Oishi N et al.
Blood Advances, 2023
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
The human DEAD-box helicase DDX3X as a regulator of mRNA translation.
Ryan CS et al.
Frontiers in Cell and Developmental Biology, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
DDX3 depletion represses translation of mRNAs with complex 5' UTRs.
Calviello L et al.
Nucleic Acids Research, 2021
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
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF et al.
Nature Communications, 2019
Intracellular pH dynamics and charge-changing somatic mutations in cancer.
White KA et al.
Cancer Metastasis Reviews, 2019
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Nicola P et al.
American Journal of Medical Genetics. Part A, 2019
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Wang X et al.
Annals of Clinical and Translational Neurology, 2018
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Dikow N et al.
American Journal of Medical Genetics. Part A, 2017
Medulloblastoma-associated DDX3 variant selectively alters the translational response to stress.
Oh S et al.
Oncotarget, 2016
Autoinhibitory Interdomain Interactions and Subfamily-specific Extensions Redefine the Catalytic Core of the Human DEAD-box Protein DDX3.
Floor SN et al.
The Journal of Biological Chemistry, 2016
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
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.
Pugh TJ et al.
Nature, 2012
Medulloblastoma-associated mutations in the DEAD-box RNA helicase DDX3X/DED1 cause specific defects in translation.
Brown NP et al.
The Journal of Biological Chemistry, 0