Associated Papers
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
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.
Lee S et al.
European Journal of Human Genetics : Ejhg, 2023
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
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
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