Robert Desnick is a Rare/Genetic physician affiliated with Mount Sinai Health System. OpenAlex indexes 1,269 publications with 46,045 citations (h-index 112); ClinicalTrials.gov lists 4 registered studies matched to this name.
Overview
Scholarship
indexed output and impact (OpenAlex)Distinct works indexed by OpenAlex, matched via ORCID.
Total citations across indexed works.
Hirsch index, productivity × impact (OpenAlex).
Clinical & industry
trials, payments and federal fundingContact
The practice address and phone this provider lists in the federal NPPES (CMS) registry.
Practice address
1 Gustave L Levy Pl
Box 1498
New York, NY 100296500
Telephone
212-659-6700Registry record last updated 22 Mar 2019.
Clinical trials
- Identification of Acute Intermittent Porphyria Modifying Genes
Sponsor: Icahn School of Medicine at Mount Sinai
- Phase III Confirmatory Study in Erythropoietic Protoporphyria
Sponsor: Clinuvel Pharmaceuticals Limited
- Clinical Diagnosis of Acute Porphyria
Sponsor: University of California, San Francisco
Registered studies on ClinicalTrials.gov where the overall official or a site investigator name-matches this physician, confirmed against known institution/geography. Latest few shown; the full list is part of the full profile.
Industry payments
9 companies reported payments to CMS in program years 2021 onward. These are public disclosures, not judgments. The latest:
- GENZYME CORPORATIONProgram year20251 payment
- Alexion Pharmaceuticals, Inc.Program year20251 payment
- SANOFI-AVENTIS U.S. LLCProgram year20234 payments$54,248openpaymentsdata.cms.gov ↗
Payment records matched to this physician's NPI in CMS Open Payments, program years 2021 onward.
NIH funding
14 NIH research awards on record, funded 1985–2025 per NIH RePORTER. The latest:
- Oral Ciclopirox Treatment for Congenital Erythropoietic Porphyria.
Icahn School of Medicine at Mount Sinai
FY2025$2,585,421R01FD008540 - Administrative Core for the Porphyrias Consortium
Icahn School of Medicine at Mount Sinai
FY2023$1,345,652U54DK083909
Awards in the NIH RePORTER records where a principal investigator name matches this physician at an organization in their practice state. Latest award years shown; each row links to the project record on RePORTER.
Publications
Matched to this physician's OpenAlex author record; most-cited works shown first.
- Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria
New England Journal of Medicine
2019 - Fabry disease revisited: Management and treatment recommendations for adult patients
Molecular Genetics and Metabolism
2018 - Functional variants in the <i>LRRK2</i> gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease
Science Translational Medicine
2018
Similar KOLs
Other experts from the same institution or the same specialty.
Mathew Williams, MD
Mount Sinai Health System
Ashutosh Tewari, MD
Mount Sinai Health System
Sahil Khera, MD, MPH
Mount Sinai Health System
Thomas Schiano, MD
Mount Sinai Health System
A basic profile from our physician directory: identity and practice contact from the federal NPPES registry, research from OpenAlex, trials from ClinicalTrials.gov, payments from CMS Open Payments — shown itemized where we have matched records, as a count where we only have a total. This person hasn't been through our full identity-adjudication pipeline yet, so funding, congress activity and public presence aren't shown. Absence of a section means “not yet looked,” never “none found.”