Associated Papers
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
Forbes EJ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
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
Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.
Oishi N et al.
Blood Advances, 2023
35882439 (PubMed )
Supplement: BLOODA_ADV-2022-007541-mmc2.xlsx › Sheet1
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation
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
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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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