Associated Papers
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
Kennis MGP et al.
European Journal of Human Genetics : Ejhg, 2025
Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.
Pomares AA et al.
Plos One, 2025
40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1
Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.
Owens MC et al.
Nature Communications, 2024
39500865 (PubMed )
Supplement: 41467_2024_53636_MOESM8_ESM.zip › Owens__Shen_et_al._Source_Data › Owens__Shen_et_al._Source_Data_Tables.xlsx › Figure_7
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Parra A et al.
Clinical Genetics, 2024
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ et al.
Nature Communications, 2023
38057330 (PubMed )
Supplement: 41467_2023_43041_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_S21_LENNOX_composite_phenotypic_score.xlsx › Supplementary_Data_S17_LENNOX_c
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Gadek M et al.
Trends in Molecular Medicine, 2023
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Tang L et al.
Molecular Autism, 2021
A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review.
Chen Y et al.
Frontiers in Pediatrics, 2020
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
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
25644381 (PubMed )
Supplement: mp2014193x1.pdf
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
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