Associated Papers
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST4
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Gadek M et al.
Trends in Molecular Medicine, 2023
Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients.
Dai Y et al.
Frontiers in Molecular Neuroscience, 2022
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
31278258 (PubMed )
Supplement: 41467_2019_11059_MOESM3_ESM.xlsx › Supplementary_Data1
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
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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