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
Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.
Veronese A et al.
Neuropediatrics, 2025
Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.
Veronese A et al.
Neuropediatrics, 2025
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Woods E et al.
Clinical Genetics, 2024
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
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 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
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
The Role of Additional Sex Combs-Like Proteins in Cancer.
Micol JB et al.
Cold Spring Harbor Perspectives in Medicine, 2016
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava A et al.
Human Molecular Genetics, 2016