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
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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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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 -
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
Shalata, A., Saada, A., Mahroum, M., Hadid, Y., Furman, C., Shalata, Z. E., Desnick, R. J., Lorber, A., Khoury, A., Higazi, A., Shaag, A., Barash, V., Spiegel, R., Vlodavsky, E., Rustin, P., Pietrokovski, S., Manov, I., Gieger, D., Tal, G. & Salzberg, A. & 1 others, , Dec 2025, In: Human Genomics. 19, 1, 21.Research output: Contribution to journal › Review article › peer-review
Open Access1 Scopus citations -
Anderson-Fabry disease management: Role of the cardiologist
Pieroni, M., Namdar, M., Olivotto, I. & Desnick, R. J., 21 Apr 2024, In: European Heart Journal. 45, 16, p. 1395-1409 15 p.Research output: Contribution to journal › Review article › peer-review
Open Access35 Scopus citations -
Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria
Yasuda, M., Lee, S., Gan, L., Bergonia, H. A., Desnick, R. J. & Phillips, J. D., Jan 2024, In: Biomolecules. 14, 1, 27.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations
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., Diaz, A., Goldman, M., Appel, J., Fowler, J., Green, R. & Diamond, S.
2/04/25
1 item of Media coverage
Press/Media
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HMN 2024: The secret life of ALAS1: How a basic science discovery could pave the way for better siRNA therapies
21/12/24
1 item of Media coverage
Press/Media