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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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
11 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
161 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 Access55 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 Access48 Scopus citations -
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes
Vacic, V., Ozelius, L. J., Clark, L. N., Bar-Shira, A., Gana-Weisz, M., Gurevich, T., Gusev, A., Kedmi, M., Kenny, E. E., Liu, X., Mejia-Santana, H., Mirelman, A., Raymond, D., Saunders-Pullman, R., Desnick, R. J., Atzmon, G., Burns, E. R., Ostrer, H., Hakonarson, H., Bergman, A., & 10 others, Sep 2014, In: Human Molecular Genetics. 23, 17, p. 4693-4702 10 p., ddu158.Research output: Contribution to journal › Article › peer-review
Open Access41 Scopus citations
Press/Media
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Miriam Merad, MD, PhD, Elected to the National Academy of Medicine for Seminal Work in Immunology and Cell Biology
Miriam Merad, Kenneth L. Davis, Eric J. Nestler, Lynne Richardson, Valentin Fuster, Rachel Yehuda, Hugh Sampson, Angela Diaz, Ramon Parsons, Brendan Carr, Peter Palese, Neil Calman, Alison Goate, Dennis Charney, Albert Siu, Helen Mayberg,, Joseph Buxbaum, Bruce Gelb, Diane Meier, Yasmin Hurd, Robert Desnick & Yvette Calderon
4/11/23
1 item of Media coverage
Press/Media
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Mount Sinai Hospital: Miriam Merad Elected to National Academy of Medicine for Seminal Work in Immunology, Cell Biology
Miriam Merad, Kenneth L. Davis, Eric J. Nestler, Lynne Richardson, Valentin Fuster, Rachel Yehuda, Hugh Sampson, Angela Diaz, Ramon Parsons, Brendan Carr, Peter Palese, Neil Calman, Alison Goate, Dennis Charney, Albert Siu, Helen Mayberg,, Joseph Buxbaum, Bruce Gelb, Diane Meier, Yasmin Hurd, Robert Desnick & Yvette Calderon
11/10/23
1 item of Media coverage
Press/Media
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Miriam Merad, MD, PhD, Elected to the National Academy of Medicine for Seminal Work in Immunology and Cell Biology
Miriam Merad, Kenneth L. Davis, Eric J. Nestler, Lynne Richardson, Valentin Fuster, Yvette Calderon, Rachel Yehuda, Hugh Sampson, Angela Diaz, Ramon Parsons, Brendan Carr, Peter Palese, Neil Calman, Alison Goate, Dennis Charney, Albert Siu, Helen Mayberg,, Joseph Buxbaum, Bruce Gelb, Diane Meier, Yasmin Hurd & Robert Desnick
9/10/23
1 item of Media coverage
Press/Media
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Miriam Merad, MD, PhD, Elected to the National Academy of Medicine for Seminal Work in Immunology and Cell Biology
Miriam Merad, Kenneth L. Davis, Eric J. Nestler, Lynne Richardson, Valentin Fuster, Yvette Calderon, Rachel Yehuda, Hugh Sampson, Angela Diaz, Ramon Parsons, Brendan Carr, Peter Palese, Neil Calman, Alison Goate, Dennis Charney, Albert Siu, Helen Mayberg,, Joseph Buxbaum, Bruce Gelb, Diane Meier, Yasmin Hurd & Robert Desnick
9/10/23
3 items of Media coverage
Press/Media
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Miriam Merad, MD, PhD, Elected to the National Academy of Medicine for Seminal Work in Immunology and Cell Biology
Miriam Merad, Kenneth L. Davis, Eric J. Nestler, Lynne Richardson, Valentin Fuster, Yvette Calderon, Rachel Yehuda, Hugh Sampson, Angela Diaz, Ramon Parsons, Brendan Carr, Peter Palese, Neil Calman, Alison Goate, Dennis Charney, Albert Siu, Helen Mayberg,, Joseph Buxbaum, Bruce Gelb, Diane Meier, Yasmin Hurd & Robert Desnick
9/10/23
73 items of Media coverage
Press/Media