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Manisha Balwani

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Manisha Balwani

MD

20062026

Research activity 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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  • Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX)

    Anderson, K. E., Desnick, R. J., Bonkovsky, H. L., Balwani, M., Barnes, S., Beaven, S. W., Yeung, A. K., Erwin, A. L., Freeman, M., Huda, R., Kazamel, M., Leaf, R. K., Keel, S. B., Levy, C., Mazepa, M., McGuire, B., Moghe, A., Naik, H., Parker, C. J. & Phillips, J. D. & 8 others, Quigley, J. G., Ramanujam, V. M. S., Rudnick, S. R., Thapar, M., Vercellotti, G. M., Wheeden, K., Wang, B. & Yasuda, M., Aug 2026, In: Molecular Genetics and Metabolism. 148, 4, 110185.

    Research output: Contribution to journal › Review article › peer-review

  • Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry

    Alcalay, R. N., Mistry, P., Di Fonzo, A., Batista, J. L., Bianculli, P., Carwile, J. L., Perichon, M. G. & Balwani, M., 26 May 2026, In: Neurology. 106, 10, p. e214986

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1 Scopus citations

  • Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

    Keehan, L. A., Ono-Minagi, H., Hadhud, M., Rips, J., Hinds, D. M., Fischer, A. J., Bartlett, J. A., McCray, P. B., Qawasmi, N., Nathan, N., Louvrier, C., Desroziers, T., Damme, M., Griese, M., Wegner, D. J., Cole, F. S., Wambach, J. A., Wheeler, M. T., Burbelo, P. D. & Bonner, D. E. & 335 others, Tran, A. A., Tarakad, A., Balasubramanyam, A., Lee, B. H., Bacino, C. A., Scott, D. A., Seto, E., Clark, G. D., Dai, H., Chao, H. T., Chinn, I., Orengo, J. P., Posey, J. E., Rosenfeld, J. A., Worley, K., Burrage, L. C., Emrick, L. T., Potocki, L., Hubshman, M. W., Lewis, R. A., Marom, R., Lalani, S. R., Ketkar, S., Vogel, T. P., Craigen, W. J., Sninsky, J., Blieden, L., Nagamani, S., Bellen, H. J., Wangler, M. F., Kanca, O., Yamamoto, S., Eng, C. M., Ward, P. A., Liu, P., Vanderver, A., Skraban, C., Behrens, E., Kilich, G., Sullivan, K., Hassey, K., Rajagopalan, R., Ganetzky, R., Cuddapah, V., Raper, A., Rader, D. J., Sirugo, G., Jobanputra, V., McConkie-Rosell, A., Schoch, K., Mikati, M., Walley, N. M., Spillmann, R. C., Shashi, V., Beggs, A. H., MacRae, C. A., Sweetser, D. A., Rao, D. A., Silverman, E. K., Fieg, E. L., High, F., Berry, G. T., Holm, I. A., Pallais, J. C., Stoler, J. M., Loscalzo, J., Rodan, L. H., Cobban, L. A., Briere, L. C., Coggins, M., Walker, M., Maas, R. L., Korrick, S., Douglas, J., Esteves, C., Glanton, E., Kohane, I. S., LeBlanc, K., Mahoney, R., Sunyaev, S. R., Kobren, S. N., Graham, B. H., Conboy, E., Vetrini, F., Treat, K. M., Liaqat, K., Mantcheva, L., Ware, S. M., Mitchell, B., Lanpher, B. C., Oglesbee, D., Klee, E., Pinto e Vairo, F., Lanza, I. R., Darr, K., Mulvihill, L., Schimmenti, L., Tan, Q., Dasari, S., Elkadri, A., Bordini, B., Basel, D., Verbsky, J., McCarrier, J., Muriello, M., Zimmermann, M., Rebelo, A., Smith, C. A., Barbouth, D., Bademci, G., Gonzalez, J. M., Latchman, K., Peart, L., Tekin, M., Borja, N., Zuchner, S., Bivona, S., Thorson, W., Taylor, H., Quarells, R. C., Iverson, A., Gelb, B., Cunningham-Rundles, C., Gayle, E., Jen, J., Bier, L., Barbosa, M., Balwani, M., Shadrina, M., Evard, R., Shuman, S., Shin, S., Gropman, A., Pusey Swerdzewski, B. N., Toro, C., Wahl, C. E., Novacic, D., Macnamara, E. F., Mulvihill, J. J., Acosta, M. T., D'Souza, P., Maduro, V. V., Afzali, B., Solomon, B., Tifft, C. J., Adams, D. R., Burke, E. A., Rossignol, F., Wood, H., Fu, J., Davis, J., Petcharet, L., Wolfe, L. A., Delgado, M., Morimoto, M., Sabaii, M., Malicdan, M. C. V., Hanchard, N., Jean-Marie, O., Introne, W., Gahl, W. A., Huang, Y., Stergachis, A., Miller, D., Rosenthal, E., Blue, E., Balton, E., Shelkowitz, E., Allenspach, E., Hisama, F. M., Jarvik, G. P., Mirzaa, G., Glass, I., Leppig, K. A., Dipple, K., Wener, M., Horike-Pyne, M., Bamshad, M., Byers, P., Kumar, R., Perlman, S., Chanprasert, S., Sybert, V., Raskind, W., Dargie, N. K., Chan, C. H., Bustos Velasq, D. F., Ward, I., Schend, J., Morgan, J., Bell, M., Leitheiser, M., Saifeddine, M., Berger, P., Li, R., Beagle, T., Miller, A., Anguiano, B., Martin, B. A., Tucker, B., Reuter, C. M., Bonner, D., Kravets, E., Mendez, H. R., Tabor, H. K., Sampson, J. B., Hom, J., Kohler, J. N., Schymick, J., Gorzynski, J. E., Bernstein, J. A., Smith, K. S., Keehan, L., Wiel, L., Wheeler, M. T., Halley, M. C., Levanto, M., Goddard, P. C., Fisher, P. G., Ungar, R. A., Alvarez, R. L., Emami, S., Marwaha, S., Montgomery, S. B., Bachir, S., Jensen, T. D., Maurer, T., Coakley, T. R., Ashley, E. A., Al-Beshri, A., Hurst, A., Wilk, B. M., Korf, B., Worthey, E. A., Callaway, K., Rodriguez, M., Skelton, T., Mamidi, T. K. K., Crouse, A. B., Whitlock, J., Nakano-Okuno, M., Might, M., Byrd, W. E., La Spada, A. R., Xiao, C., Chao, E. C., Vilain, E., Abdenur, J., Blanco, K., Steenari, M. R., Barrick, R., Chang, R., Attaripour, S., Sandmeyer, S., Mozaffar, T., Huang, A., Vargas, A., Russell, B. E., Fogel, B. L., Dell'Angelica, E. C., Carvalho, G., Martínez-Agosto, J. A., Abi Farraj, L. F., Butte, M. J., Martin, M. G., Dorrani, N., Parker, N. H., Corona, R. I., Nelson, S. F., Karasozen, Y., Quinlan, A., Ward, A., Andrews, A., Welt, C. K., Viskochil, D., Baldwin, E. E., Carey, J., Alvey, J., Pace, L., Botto, L., Longo, N., Moretti, P., Overbury, R., Butterfield, R., Boyden, S., Nicholas, T. J., Velinder, M., Marth, G., Bayrak-Toydemir, P., Mao, R., Westerfield, M., Corner, B., Phillips, J. A., Ezell, K., Rives, L., Hamid, R., Neumann, S., McMinn, A., Cogan, J. D., Cassini, T., Paul, A., Kiley, D., Wegner, D., McRoy, E., Wambach, J., Sisco, K., Dickson, P., Cole, F. S., Baldridge, D., Shin, J., Solnica-Krezel, L., Pak, S. C., Schedl, T., Bale, A., Oladele, C., Hendry, C., Wang, E., Xu, H., Zhang, H., Jeffries, L., Ortuño Romero, M. J., Gerstein, M., Spencer-Manzon, M., Lek, M., Derar, N., Kaufman, O., Mane, S., Serrano, T. J., Vasiliou, V., Halstead, W., Jiang, Y. H., Bernstein, J. A., Chiorini, J. A., Breuer, O. & Milla, C., Apr 2026, In: Genetics in Medicine. 28, 4, 102531.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    2 Scopus citations

  • Bitopertin shows efficacy in patients with erythropoietic protoporphyria: Results from the randomized, double-blind, placebo-controlled AURORA trial

    Yeung, A. K., Bonkovsky, H. L., Balwani, M., Anderson, K. E., Levy, C., Thapar, M., Wang, B., Chin, M., Savage, W., Desnick, R. & Keel, S., Apr 2026, In: Journal of the American Academy of Dermatology. 94, 4, p. 1167-1176 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    3 Scopus citations

  • Complementary and alternative medicines and cannabis use among individuals with erythropoietic protoporphyria

    Draisin, E., Rome, C. P., Hedstrom, K., Overbey, J., Balwani, M. & Naik, H., Jan 2026, In: Molecular Genetics and Metabolism. 147, 1, 109703.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 127 Research outputs
View all 27 press/media