Dr. Marini is on Doximity
As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.
- 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
9000 Rockville Pike
Bldg. 10; Rm 10d39
Bethesda, MD 20892Phone+1 301-594-3418Fax+1 301-480-3188
Education & Training
- Johns Hopkins University School of MedicineClass of 1978, MD
Certifications & Licensure
- MD State Medical License 1991 - 2025
- American Board of Medical Genetics and Genomics Clinical Genetics
Publications & Presentations
PubMed
- 24 citationsDistinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 MutationsSmita Jha, Nadja Fratzl-Zelman, Paul Roschger, Georgios Z. Papadakis, Edward W. Cowen
Journal of Bone and Mineral Research. 2019-01-01 - 52 citationsSomatic activating mutations in MAP2K1 cause melorheostosisHeeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral
Nature Communications. 2018-04-11 - 55 citationsOsteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.Joan C. Marini, Dorothy K. Grange, Gary S. Gottesman, Mary Beth Lewis, D A Koeplin
The Journal of Biological Chemistry. 1989-07-15
Viewing the full profile is available to verified healthcare professionals only.
Find your profile and take control of your online presence: