RobertJDesnickMDPhD
Medical Genetics • New York, NYClinical Biochemical Genetics, Clinical Genetics, Clinical Molecular Genetics
Professor, Genetics & Genomic Sciences, Icahn School of Medicine
Dr. Desnick is on Doximity
As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.
- Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
- Connect with colleagues in the same hospital or clinic.
- Read the latest clinical news, personalized to your specialty.
Office
1 Gustave L Levy Pl
# 1498
New York, NY 10029Phone+1 212-659-6700Fax+1 212-360-1809
Education & Training
University of MinnesotaResidency, Pediatrics, 1972 - 1972- University of Minnesota Medical SchoolClass of 1972
- University of MinnesotaResidency, Pediatrics, 1971 - 1971
Certifications & Licensure
NY State Medical License 1977 - 2025
MN State Medical License 1973 - 2021- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Awards, Honors, & Recognition
- America's Top Doctors Castle Connolly, 2002-2014
- Top Doctors: New York Metro Area Castle Connolly, 2002-2014
- New York Magazine: Top Doctors Castle Connolly, 2002-2012
- Join now to see all
Clinical Trials
- Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Start of enrollment: 2010 Apr 01
- Longitudinal Study of the Porphyrias Start of enrollment: 2010 Nov 01
- Clinical Diagnosis of Acute Porphyria Start of enrollment: 2011 Dec 01
Publications & Presentations
PubMed
- 172 citationsTechnical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laborator...Anne Maddalena, Carolyn Sue Richards, Matthew J. McGinniss, Arthur R. Brothman, Robert J. Desnick
Genetics in Medicine. 2001-05-01 - 113 citationsA Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility LociEimear E. Kenny, Itsik Pe'er, Amir Karban, Laurie J. Ozelius, Adele A. Mitchell
Plos Genetics. 2012-03-08 - 23 citationsHuman aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.Henry J. Bailey, Gustavo Arruda Bezerra, Jason R. Marcero, Siladitya Padhi, W. Foster
Nature Communications. 2020-06-04
Journal Articles
- The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 InfantsLissette Estrella, Chunli Yu, S Gabriel Kupchik, Sean M Bailey, Randi Wasserman, Ian Holzman, Suhas M Nafday, Robert J Desnick, Amy Yang, Nature
Press Mentions
Rare Disease Sufferers Fighting Both Their Condition and Federal BureaucracyJuly 11th, 2019
Health News - Mount Sinai Genetic Testing Laboratory Launches More Accurate Carrier Screening Test for Spinal Muscular AtrophyFebruary 10th, 2016
Patient Day Is Part of International Porphyrias Symposium 2023October 27th, 2023
Grant Support
- Research Training For Medical Geneticists At Mount Sinai School Of MedicineNational Institute Of General Medical Sciences2010–2011
- Porphyria RARE Disease Clinical Research Consortium (RDCRC)National Institute Of Diabetes And Digestive And Kidney Diseases2010–2011
- Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases2010
- Porphyria RARE Disease Clinical Research Consortium (RDCRC)National Institute Of Diabetes And Digestive And Kidney Diseases2009
- Research Training For Medical Geneticists At Mount Sinai School Of MedicineNational Institute Of General Medical Sciences2008–2009
- Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases2003–2007
- Mental Retardation And Developmental DisabilitiesEunice Kennedy Shriver National Institute Of Child Health &Human Development1996–2007
- Alpha-Galactosidases A &B: Molecular And Cellular MechanismsNational Center For Research Resources2004–2006
- Alpha Galactosidases A And B--Molecular And Cellular MechanismsNational Center For Research Resources1996–2002
- Porphyria And Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases1997–2000
- Alpha-Galactosidases A, B--Molecular/Cellular MechanismNational Institute Of Diabetes And Digestive And Kidney Diseases1997–1999
- Gene Therapy: Lysosomal Diseases With Mental RetardationEunice Kennedy Shriver National Institute Of Child Health &Human Development1997–1999
- Gene Therapy--Lysosomal Diseases With Mental RetardationEunice Kennedy Shriver National Institute Of Child Health &Human Development1995–1996
- Phenotypic Heterogeneity, Treatment And Prevention Of Genetic DiseasesNational Center For Research Resources1994–1996
- Alpha-Galactosidases A &B--Molecule &Cell MechanismsNational Institute Of Diabetes And Digestive And Kidney Diseases1992–1996
- Alpha-Galactosidases A And B--Molecular And Cellular MechanismsNational Center For Research Resources1994–1995
- Genetic Testing In The Ashkenazi Jewish PopulationNational Human Genome Research Institute1993–1995
- Mental Retardation And Developmental DisabilitiesEunice Kennedy Shriver National Institute Of Child Health &Human Development1988–1995
- Ceredase Treatment Of Gaucher DiseaseNational Center For Research Resources1994
- Alpha-Galactosidases A &B: Molecule &Cell MechanismsNational Institute Of Diabetes And Digestive And Kidney Diseases1993
- Ashkenazi ScreeningNational Center For Research Resources1993
- Phenotype Heterogeneity, Treatment And Prevention Of Genetic DiseasesNational Center For Research Resources1992–1993
- Fabry Disease--Molecular And Model Therapeutic StudiesNational Center For Research Resources1992–1993
- Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases1992
- Phenotype Heterogenity, Treatment And Prevention Of Genetic DiseasesNational Center For Research Resources1990–1991
- Fabry Disease: Molecular And Model Therapeutic StudiesNational Institute Of Diabetes And Digestive And Kidney Diseases1987–1991
- Studies Of Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases1986–1991
- Comparison Of Chorion Villus Sampling And AmniocentesisEunice Kennedy Shriver National Institute Of Child Health &Human Development1985–1990
- Phenotype Heterogenity, Natural History, Treatment &Prevention Of Genetic DiseasNational Center For Research Resources1989
- Therapy Of Genetic DiseasesNational Center For Research Resources1985–1988
- Mental Retardation And Developmental Disabilities (NichdEunice Kennedy Shriver National Institute Of Child Health &Human Development1985–1987
- Fabry Disease: Molecular And Model Therapeutic StudiesNational Institute Of Diabetes And Digestive And Kidney Diseases1986
- Enzyme And Gene Therapy In Genetic DiseasesNational Center For Research Resources1985–1986
- Studies Of Porphyria And Human Heme BiosynthesisNat Inst Of Arthritis, Diabetes, Digestive &Kidney Diseases1985
- Fabry Disease: Molecular And Model Therapeutic StudiesNat Inst Of Arthritis, Diabetes, Digestive &Kidney Diseases1985
Viewing the full profile is available to verified healthcare professionals only.
Find your profile and take control of your online presence:
