Projects 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.
- 1 Similar Profiles
Projects
- 20 Finished
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Administrative Core for the Porphyrias Consortium
National Institute of Diabetes and Digestive and Kidney Diseases
1/09/19 → 30/06/22
Project: Research
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Porphyrias Consortium
National Institute of Diabetes and Digestive and Kidney Diseases
30/09/09 → 30/06/22
Project: Research
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ALPHA-GALACTOSIDASES A & B: MOLECULAR AND CELLULAR MECHANISMS
National Center for Research Resources
1/03/05 → 28/02/06
Project: Research
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Alpha-Galactosidases A & B: Molecular and Cellular Mechanisms
National Center for Research Resources
1/03/04 → 28/02/05
Project: Research
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GENE THERAPY: LYSOSOMAL DISEASES WITH MENTAL RETARDATION
Kong, C. C., Desnick, R. J., Friedrich, V. L., Ioannou, Y. A., Kong, C., Lazzarini, R. A., Desnick, R., Schuchman, E., Friedrich, V. V. L. & Desnick, R. J.
National Institute of Child Health and Human Development
23/12/94 → 30/11/00
Project: Research
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Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
Kuchar, L., Faltyskova, H., Krasny, L., Dobrovolny, R., Hulkova, H., Ledvinova, J., Volny, M., Strohalm, M., Lemr, K., Kryspinova, L., Asfaw, B., Rybová, J., Desnick, R. J. & Havlicek, V., 1 Mar 2015, In: Analytical and Bioanalytical Chemistry. 407, 8, p. 2283-2291 9 p.Research output: Contribution to journal › Article › peer-review
16 Scopus citations -
Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation
Rosti, R. O., Uyguner, Z. O., Nazarenko, I., Bekerecioglu, M., Cadilla, C. L., Ozgur, H., Lee, B. H., Aggarwal, A. K., Pehlivan, S. & Desnick, R. J., Nov 2015, In: Clinical Genetics. 88, 5, p. 489-493 5 p.Research output: Contribution to journal › Article › peer-review
8 Scopus citations -
Acute porphyrias in the USA: Features of 108 subjects from porphyrias consortium
Bonkovsky, H. L., Maddukuri, V. C., Yazici, C., Anderson, K. E., Bissell, D. M., Bloomer, J. R., Phillips, J. D., Naik, H., Peter, I., Baillargeon, G., Bossi, K., Gandolfo, L., Light, C., Bishop, D. & Desnick, R. J., 1 Dec 2014, In: American Journal of Medicine. 127, 12, p. 1233-1241 9 p.Research output: Contribution to journal › Article › peer-review
145 Scopus citations -
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy
Luo, M., Liu, L., Peter, I., Zhu, J., Scott, S. A., Zhao, G., Eversley, C., Kornreich, R., Desnick, R. J. & Edelmann, L., Feb 2014, In: Genetics in Medicine. 16, 2, p. 149-156 8 p.Research output: Contribution to journal › Article › peer-review
Open Access46 Scopus citations -
Enzyme replacement therapy stabilized white matter lesion progression in fabry disease
Fellgiebel, A., Gartenschläger, M., Wildberger, K., Scheurich, A., Desnick, R. J. & Sims, K., 21 Jan 2014, In: Cerebrovascular Diseases. 38, 6, p. 448-456 9 p.Research output: Contribution to journal › Article › peer-review
Open Access45 Scopus citations
Press / Media
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Research on Erythropoietic Protoporphyria Described by Researchers at Icahn School of Medicine at Mount Sinai (A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria)
Jessica Overbey, Manisha Balwani, Hetanshi Naik & Robert Desnick
14/12/22
1 item of Media coverage
Press/Media
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Mount Sinai's Yvette Calderon, MD, MS, Elected To National Academy Of Medicine For Contributions To Emergency Medicine
Eric Nestler, Lynne Richardson, Yvette Calderon, Rachel Yehuda, Ramon Parsons, Brendan Carr, Peter Palese, Neil Calman, Alison Goate, Albert Siu, Helen Mayberg,, Joseph Buxbaum, Bruce Gelb, Yasmin Hurd, Robert Desnick, Kenneth L. Davis, Kurt Hirschhorn, Hugh Sampson, Dennis Charney & Diane Meier
20/10/22
1 item of Media coverage
Press/Media
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Mount Sinai’s Yvette Calderon, MD, MS, Elected to National Academy of Medicine for Contributions to Emergency Medicine
Eric Nestler, Lynne Richardson, Yvette Calderon, Rachel Yehuda, Ramon Parsons, Brendan Carr, Peter Palese, Neil Calman, Alison Goate, Albert Siu, Helen Mayberg,, Joseph Buxbaum, Bruce Gelb, Yasmin Hurd, Robert Desnick, Kenneth L. Davis, Kurt Hirschhorn, Hugh Sampson, Dennis Charney & Diane Meier
19/10/22
4 items of Media coverage
Press/Media
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Rep. Castor Issues Statement Honoring 175 Inventors Inducted As 2020 Fellows of The National Academy of Inventors
Edward Schuchman & Robert Desnick
26/06/21
1 item of Media coverage
Press/Media