World's Best Scientists 2026 revealed!

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Genetics

D-Index
126
Citations
54937
World Ranking
306
National Ranking
161

Molecular Biology

D-Index
126
Citations
54937
World Ranking
216
National Ranking
131

Medicine

D-Index
133
Citations
59487
World Ranking
2252
National Ranking
1272

Research.com Recognitions

  • 2020 - Fellow, National Academy of Inventors
  • 2004 - Fellow of the American Association for the Advancement of Science (AAAS)
  • 2004 - Member of the National Academy of Medicine (NAM)
  • 1981 - E. Mead Johnson Award, Society for Pediatric Research
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

Robert J. Desnick is affiliated with the Icahn School of Medicine at Mount Sinai in the United States. Their research spans multiple interconnected disciplines primarily within biochemistry, genetics, and molecular biology, as well as medicine. This body of work reflects a concentrated focus on molecular biology and physiology, with additional involvement in pediatrics, perinatology, child health, rheumatology, and genetics.

Their principal research topics include:

  • Porphyrin Metabolism and Disorders
  • Lysosomal Storage Disorders Research
  • Heme Oxygenase-1 and Carbon Monoxide
  • Neonatal Health and Biochemistry
  • Folate and B Vitamins Research
  • Trypanosoma Species Research and Implications
  • Metabolism and Genetic Disorders

Notable recent publications authored or co-authored by Robert J. Desnick include:

  • Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE, 2020, Clinical Genetics
  • AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction, 2020, Molecular Therapy - Methods & Clinical Development
  • Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium, 2020, Hepatology
  • Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release, 2020, Nature Communications
  • Anderson-Fabry disease management: role of the cardiologist, 2024, European Heart Journal

Frequent co-authors of Robert J. Desnick include:

  • Karl E. Anderson
  • Manisha Balwani
  • Herbert L. Bonkovsky
  • Hetanshi Naik
  • John D. Phillips

The scientist's work has been regularly published in the following venues:

  • Molecular Genetics and Metabolism (5 publications)
  • Genetics in Medicine Open (4 publications)
  • The American Journal of Human Genetics (2 publications)
  • Clinical Kidney Journal (2 publications)
  • Current Neurology and Neuroscience Reports (2 publications)

Throughout their career, Robert J. Desnick has received several awards and recognitions, including:

  • Fellow, National Academy of Inventors (2020)
  • Fellow of the American Association for the Advancement of Science (AAAS) (2004)
  • Member of the National Academy of Medicine (NAM) (2004)
  • E. Mead Johnson Award from the Society for Pediatric Research (1981)
  • Member of the Association of American Physicians

Best Publications

  • Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

    Christine M. Eng;Nathalie Guffon;William R. Wilcox;Dominique P. Germain

  • Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

    Bruce D. Gelb;Guo-Ping Shi;Harold A. Chapman;Robert J. Desnick

  • High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

    Marco Spada;Severo Pagliardini;Makiko Yasuda;Turgut Tukel

  • Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

    Robert J. Desnick;Roscoe Brady;John Barranger;Allan J. Collins

  • A Pharmacogenetic versus a Clinical Algorithm for Warfarin Dosing

    Stephen E. Kimmel;Benjamin French;Scott E. Kasner;Julie A. Johnson

  • Recommendations for the Diagnosis and Treatment of the Acute Porphyrias

    Karl E. Anderson;Joseph R. Bloomer;Herbert L. Bonkovsky;James P. Kushner

  • Agalsidase-Beta Therapy for Advanced Fabry Disease: A Randomized Trial

    Maryam Banikazemi;Jan Bultas;Stephen Waldek;William R. Wilcox

  • Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.

    Shoichiro Nakao;Chihaya Kodama;Chihaya Kodama;Toshihiro Takenaka;Toshihiro Takenaka;Akihiro Tanaka;Akihiro Tanaka

  • Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

    William R. Wilcox;Maryam Banikazemi;Nathalie Guffon;Stephen Waldek

  • Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.

    Kenichi Horinouchi;Shai Erlich;Daniel P. Perl;Klaus Ferlinz

  • The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities

    Rhoads Gg;Jackson Lg;Schlesselman Se;de la Cruz Ff

  • Fabry disease revisited: Management and treatment recommendations for adult patients

    Alberto Ortiz;Dominique P. Germain;Robert J. Desnick;Juan Politei

  • Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.

    Dominique P. Germain;Stephen Waldek;Maryam Banikazemi;Maryam Banikazemi;David A. Bushinsky

  • Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

    Michael S Watson;Garry R Cutting;Robert J Desnick;Deborah A. Driscoll

  • An atypical variant of Fabry's disease with manifestations confined to the myocardium.

    von Scheidt W;Eng Cm;Fitzmaurice Tf;Erdmann E

  • A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.

    Christine M. Eng;Maryam Banikazemi;Ronald E. Gordon;Martin Goldman

  • Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

    Wayne W. Grody;Garry R. Cutting;Katherine W. Klinger;Carolyn Sue Richards

  • Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

    Beth L. Thurberg;Helmut Rennke;Helmut Rennke;Helmut Rennke;Robert B. Colvin;Robert B. Colvin;Robert B. Colvin;Steven Dikman;Steven Dikman;Steven Dikman

  • Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

    Raphael J. Schiffmann;David G. Warnock;Maryam Banikazemi;Jan Bultas

  • Agalsidase-Beta Therapy for Advanced Fabry Disease

    Maryam Banikazemi;Jan Bultas;Stephen Waldek;William R. Wilcox

Frequent Co-Authors

Edward H. Schuchman
Edward H. Schuchman Icahn School of Medicine at Mount Sinai
David F. Bishop
David F. Bishop Icahn School of Medicine at Mount Sinai
William Krivit
William Krivit University of Minnesota
Gregory A. Grabowski
Gregory A. Grabowski University of Cincinnati Medical Center
John D. Phillips
John D. Phillips University of Utah
Lisa Edelmann
Lisa Edelmann Icahn School of Medicine at Mount Sinai
Bruce D. Gelb
Bruce D. Gelb Icahn School of Medicine at Mount Sinai
Shimon Gatt
Shimon Gatt Hebrew University of Jerusalem
James G. Wetmur
James G. Wetmur Icahn School of Medicine at Mount Sinai
William R. Wilcox
William R. Wilcox Emory University

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