Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.
Hodgson AKO et al.
American Journal of Medical Genetics. Part A, 2025
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency.
Dugger SA et al.
Plos Genetics, 2023
37782669 (PubMed )
Supplement: pgen.1010952.s011.pdf
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Taylor J et al.
American Journal of Medical Genetics. Part A, 2022
De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review.
Song Z et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
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_
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Durkin A et al.
American Journal of Medical Genetics. Part A, 2020
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Leduc MS et al.
American Journal of Medical Genetics. Part A, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C et al.
Human Genetics, 2017
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