Associated Papers
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.
Romano F et al.
European Journal of Medical Genetics, 2026
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
39944418 (PubMed )
Supplement: mmc1.docx
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
Suzuki T et al.
Scientific Reports, 2022
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI et al.
Journal of Neurochemistry, 2022
Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies.
Zhang F et al.
Frontiers in Genetics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Genome-wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24.
Suzuki T et al.
Epilepsia, 2021
Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies.
Astro V et al.
Frontiers in Cell and Developmental Biology, 2021
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.
Barington M et al.
European Journal of Human Genetics : Ejhg, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Chatron N et al.
Annals of Neurology, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM3_ESM.xlsx › LancetAnalysis
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
Hoischen A et al.
Nature Neuroscience, 2014
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