Are you Dr. Bedoukian?
Join over one million U.S. Physicians, Nurse Practitioners and PAs, already on Doximity.
- Gain access to free telehealth tools, such as our "call shielding" and one-way patient texting.
- Connect with colleagues in the same hospital or clinic.
- Read the latest clinical news, personalized to your specialty.
Office
3615 Civic Center Blvd
Philadelphia, PA 19104Phone+1 267-426-7029Fax+1 267-426-7152
Summary
- Dr. Emma Bedoukian, MD is a medical geneticist in Philadelphia, Pennsylvania.
Publications & Presentations
PubMed
- 15 citationsIsolated maculopathy associated with biallelic CRB1 mutations.Neepa Shah, Mausam R. Damani, Xiaosong Sonia Zhu, Emma Bedoukian, Jean Bennett
Ophthalmic Genetics. 2017-03-01 - 14 citationsEP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Jennifer L. Cohen, Samantha A. Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena
American Journal of Medical Genetics. Part A. 2020-10-11 - 14 citationsJARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.Eline A. Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael-Croes
Genetics in Medicine. 2021-02-01
