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
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
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM et al.
American Journal of Medical Genetics. Part A, 2017
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