Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA et al.
Journal of Medical Genetics, 2017
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC et al.
Nature Genetics, 2015
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