Associated Papers
Novel HUWE1-Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion.
Dai Y et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2026
Emerging roles for E3 ubiquitin ligases in neural development and disease.
Hale M et al.
Frontiers in Cell and Developmental Biology, 2025
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
Strong A et al.
Scientific Reports, 2023
36653407 (PubMed )
Supplement: 41598_2023_27641_MOESM2_ESM.xlsx › Sheet1
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Aprigliano R et al.
Cell Reports. Medicine, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.
Giles AC et al.
Neural Development, 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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.
Bosshard M et al.
Scientific Reports, 2017
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ et al.
Bmj Open, 2016
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