Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.
Švantnerová J et al.
Neuropediatrics, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Awamleh Z et al.
European Journal of Human Genetics : Ejhg, 2022
35361921 (PubMed )
Supplement: 41431_2022_1083_MOESM1_ESM.xlsx › Table_S1_Phenotypes
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Cuddapah VA et al.
American Journal of Medical Genetics. Part A, 2021
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
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
31031587 (PubMed )
Supplement: Table_1.XLSX › ASD_group
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
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler A et al.
European Journal of Human Genetics : Ejhg, 2017
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