Associated Papers
Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.
Köhnke T et al.
Blood Cancer Discovery, 2024
38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_tables_1-5_suppst1.xlsx › Supplementary_Table_1
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
Lin I et al.
Jci Insight, 2023
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Russell BE et al.
American Journal of Medical Genetics. Part A, 2023
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
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.
Zhao W et al.
Frontiers in Pediatrics, 2021
A de novo truncating mutation in ASXL1 associated with segmental overgrowth.
Efthymiou S et al.
Journal of Genetics, 2019
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Urreizti R et al.
Clinical Case Reports, 2018
Select a paper to view details