Relevant published research
Full research database
With the support of volunteers, we maintain a spreadsheet of all research articles of interest as they are published. It is available for download as an Excel spreadsheet and is updated regularly.
Thank you to Lauren Adams and Rashke Bradley for creating this document and to Emily Peirent and Erin Wissink for their assistance in maintaining it.
Select articles relevant to the ASXL syndrome community
Our community celebrates every time researchers publish new information about ASXL genes or syndromes. The following is a summary of the most relevant research and are categorized below by which syndrome they are related to and then listed in chronological order.
ASXL1/2/3 (related to all three ASXL syndromes)
Article citation: Cuddapah VA, Dubbs HA, Adang L, et al. Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. Am J Med Genet A. 2021;185(6):1700-1711. doi:10.1002/ajmg.a.62156
Article citation: Ayoub MC, Anderson JT, Russell BE, Wilson RB. Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3). Frontiers in Neuroscience. 2023;17. doi:10.3389/fnins.2023.1244176
ASXL1/Bohring-Opitz Syndrome
Article citation: Russell, B. E., Sloan, J., Nariai, H., Ludwig, N., Dickinson, A., Awamleh, Z., Weksberg, R., Lin, I., Arboleda, V., Tan, W-H. (2024) Deep neurologic phenotyping and biomarker development in Bohring-Opitz syndrome using EEGs, neurodevelopmental assessments, and DNA methylation signature [Poster Abstract]. 2024 American College of Medical Genetics Annual Meeting, Toronto, ON, Canada. https://doi.org/10.1016/j.gimo.2024.101089
Article citation: Lin, I., Wei, A., Awamleh, A., Singh, M., Ning, A., Herrera, A., REACH Biobank and Registry, Russell, B. E., Weksberg, R., & Arboleda, V. A. (2023). Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation. JCI Insight. https://doi.org/10.1172/jci.insight.167744
Article citation: Russell, B. E., Kianmahd, R. R., Munster, C., Yu, A., Ahad, L., & Tan, W.-H. (2023). Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk. American Journal of Medical Genetics Part A, 1– 9. https://doi.org/10.1002/ajmg.a.63125
Article citation: Awamleh, Z., Chater-Diehl, E., Choufani, S. et al. DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01083-0
Article citation: Russell B, Johnston JJ, Biesecker LG, et al. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet A. 2015;167A(9):2122-2131. doi:10.1002/ajmg.a.37131
GeneReviews: Bohring-Opitz Syndrome
Article citation: Russell B, Tan WH, Graham JM Jr. Bohring-Opitz Syndrome. 2018 Feb 15. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK481833/
ASXL2/Shashi-Pena Syndrome
Article citation: Shashi V, Pena LD, Kim K, et al. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype [published correction appears in Am J Hum Genet. 2017 Jan 5;100(1):179]. Am J Hum Genet. 2016;99(4):991-999. doi:10.1016/j.ajhg.2016.08.017
ASXL3/Bainbridge-Ropers Syndrome
Article citation: Woods E, Holmes N, Albaba S, Evans IR, Balasubramanian M. ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism. Clin Genet. Published online February 29, 2024. doi:10.1111/cge.14506
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Article citation: Schirwani, S., Woods, E., Koolen, D. A., Ockeloen, C. W., Lynch, S. A., Kavanagh, K., Graham, J. M., Jr, Grand, K., Pierson, T. M., Chung, J. M., & Balasubramanian, M. (2023). Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. American journal of medical genetics. Part A, 191(1), 29–36. https://doi.org/10.1002/ajmg.a.62981
Article citation: Schirwani S, Albaba S, Carere DA, et al. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 [published online ahead of print, 2021 Aug 26]. Am J Med Genet A. 2021;10.1002/ajmg.a.62465. doi:10.1002/ajmg.a.62465
GeneReviews: ASXL3-related disorder
Article citation: Balasubramanian M, Schirwani S. ASXL3-Related Disorder. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; November 5, 2020.
Summary: This article is a clinical summary of Bainbridge-Ropers Syndrome published in GeneReviews, the go-to resource for clinicians to better understand genetic disorders. This summary includes diagnostic guidance, an overview of clinical characteristics, disease management, and recommended evaluations following diagnosis.
Having a GeneReviews article of Bainbridge-Ropers Syndrome is a huge step for the Bainbridge-Ropers Syndrome and ASXL community!