Research output per year
Research output per year
Personal profile
Headline
DEAN FOR GENETICS AND GENOMIC MEDICINE, PROFESSOR AND CHAIRMAN EMERITUS GENETICS AND GENOMIC SCIENCES | Pediatrics, PROFESSOR | Oncological Sciences, PROFESSOR | OBGYN and Reproductive Science
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Dive into the research topics where Robert Desnick is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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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, , Aug 2026, In: Molecular Genetics and Metabolism. 148, 4, 110185.Research output: Contribution to journal › Review article › peer-review
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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 Access3 Scopus citations -
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
Open Access -
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 Access7 Scopus citations -
Plain Language Summary: kidney function and severe clinical events in people with Fabry disease who receive agalsidase beta
Batista, J. L., Walter, J., Ponce, E., Wanner, C. & Desnick, R. J., 2025, In: Future Rare Diseases. 5, 1, 2570636.Research output: Contribution to journal › Article › peer-review
Open Access
Press/Media
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Petrovax Pharm: Experts discussed the prospects for detecting Fabry disease in newborns
28/10/25
1 item of Media coverage
Press/Media
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Petrovax Pharm: The scientist-developer of the enzyme replacement therapy for Fabry disease from the USA highly appreciated the Russian bioanalogue Fabagal
20/05/25
1 item of Media coverage
Press/Media
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《第一欄》TO THE AMERICAN PEOPLE
Goodenough, U., Buxbaum, J., Bhardwaj, N., Desnick, R., Goate, A., Chen, H., Cohen,, E., Cohen, J., Cohen, J., Goldman, M., Appel, J., Fowler, J., Green, R. & Diamond, S.
2/04/25
1 item of Media coverage
Press/Media