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
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Woods E et al.
Clinical Genetics, 2024
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
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 splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I et al.
American Journal of Medical Genetics. Part A, 2016
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