Associated Papers
Impaired cortical development and translational control in a missense mouse model of DDX3X syndrome.
Poff AJ et al.
Disease Models & Mechanisms, 2025
Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.
Bi Y et al.
Human Molecular Genetics, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 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
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Parra A et al.
Clinical Genetics, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders.
Lederbauer J et al.
Frontiers in Molecular Neuroscience, 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
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Gadek M et al.
Trends in Molecular Medicine, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients.
Dai Y et al.
Frontiers in Molecular Neuroscience, 2022
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Robinson PS et al.
Nature Genetics, 2021
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Tang L et al.
Molecular Autism, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H et al.
Nature, 2019
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Wang X et al.
Annals of Clinical and Translational Neurology, 2018
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.
Rusch M et al.
Nature Communications, 2018
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.
Izquierdo E et al.
Oncotarget, 2017