Associated Papers
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
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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
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
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
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
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig NC et al.
Human Genetics, 2017
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