Associated Papers
HAPSTR1 localizes HUWE1 to the nucleus to limit stress signaling pathways.
Monda JK et al.
Cell Reports, 2023
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al.
European Journal of Pediatrics, 2022
34347148 (PubMed )
Supplement: 431_2021_4213_MOESM3_ESM.xlsx › Supplementary_table_3b
Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.
Lin J et al.
Nature Communications, 2021
34362903 (PubMed )
Supplement: 41467_2021_25012_MOESM3_ESM.xlsx › TableS2.SomaticMutations
Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.
Giles AC et al.
Neural Development, 2020
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.
Muthusamy B et al.
European Journal of Medical Genetics, 2020
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J et al.
European Journal of Medical Genetics, 2018
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S et al.
European Journal of Human Genetics : Ejhg, 2018
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC et al.
Nature Genetics, 2015
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