Associated Papers
Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report.
Panova M et al.
Children (basel, Switzerland), 2026
DDX3X mutation and Epstein-Barr virus cooperate to induce R-loop-dependent oncogenesis.
Cai HM et al.
Cell Reports, 2025
DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.
Fiorenzani C et al.
Trends in Genetics : Tig, 2025
Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.
Owens MC et al.
Nature Communications, 2024
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
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
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
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.
Ganz J et al.
Cancer Discovery, 2022
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Tang L et al.
Molecular Autism, 2021
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children.
Liu J et al.
Frontiers in Oncology, 2021
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe.
Iqbal S et al.
Nucleic Acids Research, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.
Izquierdo E et al.
Oncotarget, 2017