Research output per year
Research output per year
Personal profile
Headline
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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A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria
Merati, M., Jayakumar, N., Kapoor, Y., Naik, H., Balwani, M., Anderson, K. E., Bonkovsky, H. L., Desnick, R. J., McGuire, B., Phillips, J., Bissell, D. M. & Wang, B., Jul 2025, In: Liver International. 45, 7, e70156.Research output: Contribution to journal › Article › peer-review
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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., Mar 2025, In: Liver International. 45, 3, e15924.Research output: Contribution to journal › Review article › peer-review
Open Access3 Scopus citations -
Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria
The Porphyrias Consortium of the Rare Diseases Clinical Research Network, 19 Feb 2025, In: Hepatology Communications. 9, 3, 10.1097/HC9.0000000000000657.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria
Naik, H., Wheeden, K., Colwell, H. H., Mathias, S. D., Norregaard, C., Chin, M., Savage, W. & Balwani, M., May 2025, In: JIMD Reports. 66, 3, e70015.Research output: Contribution to journal › Article › peer-review
Open Access -
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
11 Scopus citations
Press/Media
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Clinical Research Unit Is a “Hidden Gem” Supporting Mount Sinai Investigators and Patients
28/01/25
1 item of Media coverage
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Mount Sinai Secures $3.26M Grant for Undiagnosed Diseases Center
18/09/24
1 item of Media coverage
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Mount Sinai Health gets $3.26M NIH grant for undiagnosed diseases center
17/09/24 → 18/09/24
2 items of Media coverage
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Mount Sinai secures $3.26m grant for new undiagnosed diseases centre
18/09/24
1 item of Media coverage
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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