Home » Research » Published research

Published research

Explore the latest peer-reviewed clinical and scientific research publications. Peer-reviewed studies, which are rigorously evaluated by experts to ensure credibility and quality, are essential for advancing the field. These publications are used by doctors, insurers, and regulatory agencies to inform treatment plans, coverage decisions, and the development of new therapies.

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. This spreadsheet is divided into multiple worksheets by category. Some of the categories include:

Bohring-Opitz Syndrome (ASXL1)
Shashi-Pena Syndrome (ASXL2)
Bainbridge-Ropers Syndrome (ASXL3)
Pathway/mechanism
Related disorders
Development

Thank you to volunteers Lauren Adams and Rashke Bradley for creating this document and to Erin Wissink for assistance in maintaining it.

Download spreadsheet

Select peer-reviewed clinical publications

The following are the most relevant clinical research publications that describe features and symptoms of ASXL-related disorders. Individual case reports are not included here, but are included in the full research database document. The GeneReviews publication for each disorder provides the most comprehensive care management guidelines to date. Articles can be filtered by gene of interest.

Bohring-Opitz Syndrome (ASXL1)

GeneReviews: Bohring-Opitz Syndrome

Russell, B., Johnson, A., & Tan, W. H. (2026). ASXL1-Related Bohring-Opitz Syndrome. In Adam, M. P., Ardinger, H. H., Pagon, R. A., et al. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK481833/

Shashi-Pena Syndrome (ASXL2)

GeneReviews: Shashi-Pena Syndrome

Porter, J. M., Pena, L. D. M., Spillmann, R. C., et al. (2024). Shashi-Pena Syndrome. In Adam, M. P., Feldman, J., Mirzaa, G. M., et al. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK609017/

Bainbridge-Ropers Syndrome (ASXL3)

GeneReviews: ASXL3-related disorder

Balasubramanian, M., & Schirwani, S. (2020). ASXL3-Related Disorder. In Adam, M. P., Ardinger, H. H., Pagon, R. A., et al. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK563693/

Bainbridge-Ropers Syndrome (ASXL3)

Bohring-Opitz Syndrome (ASXL1)

Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies

Ludwig NN, Licari MK, Wojnaroski M, Conecker G, Hecker J, Hommer R, Muzyczka K, Jacoby P, Downs J. Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies. Qual Life Res. 2026 Jan 14;35(2):45. doi: 10.1007/s11136-025-04153-0. PMID: 41533235; PMCID: PMC12804316.

Bainbridge-Ropers Syndrome (ASXL3)

Gene-Specific Growth Charts for ASXL3-Related Disorder

Woods E, Low KJ, Cole TJ, Balasubramanian M. Gene‐Specific Growth Charts for ASXL3‐Related Disorder. Am J Med Genet A. 2025 Dec 10:e70017. doi:10.1002/ajmga.70017. PMID: 41368945.

Bainbridge-Ropers Syndrome (ASXL3)

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis

Peter, B., Aggarwal, P., Kim, Y., Bruce, L., & Klein-Seetharaman, J. (2025). Speech and language development of two brothers with Bainbridge-Ropers syndrome: Phenotypic and bioinformatic support for a cerebellar ASXL3 hypothesis. American Journal of Medical Genetics Part A, Advance online publication. https://doi.org/10.1002/ajmg.a.64240

Bainbridge-Ropers Syndrome (ASXL3)

Bohring-Opitz Syndrome (ASXL1)

Shashi-Pena Syndrome (ASXL2)

Assessing pubertal timing, duration, and related characteristics in ASXL-related disorders: A cross-sectional caregiver survey analysis

Piring, A., Hicks, R., Sloan, J., Ramires-Sanchez, E., & Russell, B. E. (2025). Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis. American journal of medical genetics. Part A, e64216. Advance online publication. https://doi.org/10.1002/ajmg.a.64216

Bainbridge-Ropers Syndrome (ASXL3)

Bohring-Opitz Syndrome (ASXL1)

Shashi-Pena Syndrome (ASXL2)

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature

Cuddapah, V. A., Dubbs, H. A., Adang, L., et al. (2021). Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. American Journal of Medical Genetics Part A, 185(6), 1700–1711. https://doi.org/10.1002/ajmg.a.62156

Load more

{"post_type":"article","post_status":"publish","posts_per_page":8}

Discover

Participate in Research

Participate in research

ASXL Care Directory

News