Associated Papers
A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.
Wang P et al.
Genome Biology, 2025
40696461 (PubMed )
Supplement: 13059_2025_3667_MOESM1_ESM.xlsx › Overlap_between_lines
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.
Lee S et al.
European Journal of Human Genetics : Ejhg, 2023
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Rooney K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
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