Associated Papers
Characterization of aberrant splicing in pediatric central nervous system tumors reveals CLK1 as a candidate oncogenic dependency.
Naqvi AS et al.
Biorxiv : the Preprint Server for Biology, 2025
Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.
Bi Y et al.
Human Molecular Genetics, 2025
Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.
Bravo-Perez C et al.
The Journal of Clinical Investigation, 2025
Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.
Mosti F et al.
Plos Genetics, 2025
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
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Parra A et al.
Clinical Genetics, 2024
A comprehensive review on DDX3X liquid phase condensation in health and neurodevelopmental disorders.
Rosa E Silva I et al.
International Journal of Biological Macromolecules, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ et al.
Nature Communications, 2023
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
Rafat K et al.
Molecular Syndromology, 2023
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Gadek M et al.
Trends in Molecular Medicine, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X.
de Castro Fonseca M et al.
Iscience, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Tang L et al.
Molecular Autism, 2021
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
Suzuki T et al.
Annals of Clinical and Translational Neurology, 2020
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
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
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.
Pugh TJ et al.
Nature, 2012
Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.
O'Halloran K et al.
Neuro-oncology Advances, 0