Associated Papers
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.
Woods E et al.
American Journal of Medical Genetics. Part A, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.
Han M et al.
Molecular Genetics & Genomic Medicine, 2024
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Woods E et al.
Clinical Genetics, 2024
ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.
Švantnerová J et al.
Neuropediatrics, 2022
De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.
Wang Q et al.
Molecular Genetics & Genomic Medicine, 2022
Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report.
Li JR et al.
World Journal of Clinical Cases, 2020
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC et al.
Cold Spring Harbor Molecular Case Studies, 2018
29305346 (PubMed )
Supplement: supp_mcs.a002410_Supplemental_Table_5.xlsx › Sheet1
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M et al.
Journal of Medical Genetics, 2017
Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency.
Giri D et al.
International Journal of Pediatric Endocrinology, 2017
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I et al.
American Journal of Medical Genetics. Part A, 2016
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava A et al.
Human Molecular Genetics, 2016
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
Bainbridge MN et al.
Genome Medicine, 2013
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