Research output per year
Research output per year
Personal profile
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ASSOCIATE PROFESSOR | Genetics and Genomic Sciences ASSOCIATE PROFESSOR | Medicine
Biography
Specialty http://icahn.mssm.edu/vgn-ext-templating/FapServlet?tab=fad&sp=Internal+Medicine&kw=&loc=&ips=&hrs=&g=&ln=&fn=&vgnextoid=24fc8af68fc17210VgnVCM1000003242020aRCRD&sitename=MSSM&fpa=true&inst= Internal Medicine http://icahn.mssm.edu/vgn-ext-templating/FapServlet?tab=fad&sp=Clinical+Genetics+-+MD&kw=&loc=&ips=&hrs=&g=&ln=&fn=&vgnextoid=24fc8af68fc17210VgnVCM1000003242020aRCRD&sitename=MSSM&fpa=true&inst= Clinical Genetics - MD Clinical Focus http://www.mountsinai.org/patient-care/health-library/diseases-and-conditions/gaucher-disease Gaucher Disease http://www.mountsinai.org/patient-care/health-library/diseases-and-conditions/porphyria Porphyria Education MBBS, Topiwala National Medical College Master's, University of Pittsburgh Residency, Internal Medicine North Shore Univ. Hosp. at Forest Hills Fellowship, Medical Genetics Mount Sinai Hospital Fellowship, Biochemical Genetics Mount Sinai Hospital Biography Board Certification: Internal Medicine, Clinical Genetics Research Current Research: Modifier Genes in Type I Gaucher disease
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Collaborations and top research areas from the last five years
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Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
Balwani, M., Keel, S., Meissner, P., Sonderup, M., Stein, P. & Yasuda, M., 2024, (Accepted/In press) In: Liver International.Research output: Contribution to journal › Review article › peer-review
Open Access1 Scopus citations -
Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria
the Porphyrias Consortium of the Rare Diseases Clinical Network, Mar 2024, In: Hepatology. 79, 3, p. 731-743 13 p.Research output: Contribution to journal › Article › peer-review
8 Scopus citations -
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
Mistry, P. K., Balwani, M., Charrow, J., Lorber, J., Niederau, C., Carwile, J. L., Oliveira-dos-Santos, A., Perichon, M. G., Uslu Cil, S. & Kishnani, P. S., Aug 2024, In: American Journal of Hematology. 99, 8, p. 1500-1510 11 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study
Sardh, E., Balwani, M., Rees, D. C., Anderson, K. E., Jia, G., Sweetser, M. T. & Wang, B., Dec 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 365.Research output: Contribution to journal › Article › peer-review
Open Access -
Regression of smoldering myeloma with treatment of Gaucher disease
Barley, K., Parekh, A., Salam, S., Mendu, D. R., Shukla, R. P., Vatti, D., Verina, D., Stauffer, C., Salib, C., El Jamal, S., Teruya-Feldstei, J., Duffield, A. S., Leshchenko, V. V., Jagannath, S., Balwani, M. & Parekh, S., 9 Apr 2024, In: Blood advances. 8, 7, p. 1634-1638 5 p.Research output: Contribution to journal › Letter › peer-review
Open Access2 Scopus citations
Press/Media
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Mount Sinai secures $3.26m grant for new undiagnosed diseases centre
18/09/24
1 item of Media coverage
Press/Media
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Mount Sinai Secures $3.26M Grant for Undiagnosed Diseases Center
18/09/24
1 item of Media coverage
Press/Media
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Mount Sinai secures $3.26m grant for new undiagnosed diseases centre
18/09/24
1 item of Media coverage
Press/Media
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New Four-Year, $3.26 Million Grant From the National Institute of Neurological Disorders and Stroke Establishes the Mount Sinai Center for Undiagnosed Diseases
17/09/24
1 item of Media coverage
Press/Media
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New $3.26 million grant launches Undiagnosed Diseases Network site in New York
17/09/24
1 item of Media coverage
Press/Media