ASXL clinical specialists
There are several geneticist specialists and clinics that we consider to be experts at understanding and treating Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes. These geneticists can make referrals based on your child’s specific needs. Most sites are also sponsors of the ASXL Patient Registry and can collect research samples.
If you are a clinician who would like to be added to this list, please contact info@arrefoundation.org.
Boston Children’s Hospital
Dr. Wen-Hann Tan
300 Longwood Avenue
Boston, MA 02115
Email: wen-hann.tan@childrens.harvard.edu
Phone: 617-355-6394
Fax: 617-730 0466
Cincinnati Children’s
Dr. Loren Pena
3333 Burnett Avenue
Cincinnati, OH 45229
Email: loren.pena@cchmc.org
Phone: 513-636-3200
Fax: 513-636-7297
Duke University Medical Center
Dr. Vandana Shashi and Dr. Jennifer Cohen
Lenox Baker Children's Hospital
3000 Erwin Rd
Durham, NC 27705-4599
Email: vandana.shashi@duke.edu or jennifer.l.cohen@duke.edu
Phone: 919-668-2196
Fax: 919-668-0414
UCLA Health
Dr. Bianca Russell
UCLA ASXL-Related Disorders and Chromatinopathies Clinic
200 Medical Plaza
Los Angeles, CA 90095
Email: asxl-chromatin-registry@mednet.ucla.edu
Phone: 310-206-6583
Sheffield Children’s NHS Foundation Trust
Dr. Meena Balasubramanian
Sheffield Clinical Genetics Service
OPD2 Northern General Hospital
Herries Road
Sheffield S5 7AU
United Kingdom
Phone: 0114 271 7027