Associated Papers
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
Select a paper to view details