World's Best Scientists 2026 revealed!

D-Index & Metrics

Medicine

D-Index
133
Citations
59487
World Ranking
2252
National Ranking
1271

Genetics

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

Molecular Biology

D-Index
126
Citations
54937
World Ranking
216
National Ranking
130

Robert J. Desnick publication distribution in Molecular Biology in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Molecular Biology in 2026. The highlighted bar marks where Robert J. Desnick sits on this spectrum.

47–56 publications: 7 scientists 57–66 publications: 17 scientists 67–76 publications: 65 scientists 77–86 publications: 90 scientists 87–96 publications: 125 scientists 97–106 publications: 131 scientists 107–116 publications: 162 scientists 117–126 publications: 177 scientists 127–136 publications: 158 scientists 137–146 publications: 158 scientists 147–156 publications: 146 scientists 157–166 publications: 159 scientists 167–176 publications: 131 scientists 177–186 publications: 110 scientists 187–196 publications: 112 scientists 197–206 publications: 100 scientists 207–216 publications: 89 scientists 217–226 publications: 98 scientists 227–236 publications: 74 scientists 237–246 publications: 72 scientists 247–256 publications: 63 scientists 257–266 publications: 53 scientists 267–276 publications: 54 scientists 277–286 publications: 49 scientists 287–296 publications: 52 scientists 297–306 publications: 43 scientists 307–316 publications: 46 scientists 317–326 publications: 41 scientists 327–336 publications: 42 scientists 337–346 publications: 31 scientists 347–356 publications: 28 scientists 357–366 publications: 29 scientists 367–376 publications: 26 scientists 377–386 publications: 24 scientists 387–396 publications: 24 scientists 397–406 publications: 14 scientists 407–416 publications: 13 scientists 417–426 publications: 20 scientists 427–436 publications: 12 scientists 437–446 publications: 20 scientists 447–456 publications: 11 scientists 457–466 publications: 10 scientists 467–476 publications: 14 scientists 477–486 publications: 14 scientists 487–496 publications: 10 scientists 497–506 publications: 13 scientists 507–516 publications: 13 scientists 517–526 publications: 2 scientists 527–536 publications: 4 scientists 537–546 publications: 6 scientists 547–556 publications: 8 scientists 557–563 publications: 6 scientists 564+ publications: 100 scientists
47 publications 564+

This scientist: 676 publications — 98th percentile

98% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 564 publications or more.

Robert J. Desnick D-index placement in Molecular Biology in 2026

The chart shows the D-index (discipline H-index) distribution of Molecular Biology scientists ranked by Research.com in 2026. The highlighted bar marks where Robert J. Desnick sits on this spectrum.

40–41 D-Index: 36 scientists 42–43 D-Index: 101 scientists 44–45 D-Index: 115 scientists 46–47 D-Index: 121 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 130 scientists 52–53 D-Index: 106 scientists 54–55 D-Index: 116 scientists 56–57 D-Index: 113 scientists 58–59 D-Index: 129 scientists 60–61 D-Index: 120 scientists 62–63 D-Index: 105 scientists 64–65 D-Index: 131 scientists 66–67 D-Index: 95 scientists 68–69 D-Index: 97 scientists 70–71 D-Index: 106 scientists 72–73 D-Index: 83 scientists 74–75 D-Index: 89 scientists 76–77 D-Index: 77 scientists 78–79 D-Index: 70 scientists 80–81 D-Index: 73 scientists 82–83 D-Index: 60 scientists 84–85 D-Index: 48 scientists 86–87 D-Index: 45 scientists 88–89 D-Index: 50 scientists 90–91 D-Index: 31 scientists 92–93 D-Index: 51 scientists 94–95 D-Index: 43 scientists 96–97 D-Index: 38 scientists 98–99 D-Index: 39 scientists 100–101 D-Index: 41 scientists 102–103 D-Index: 29 scientists 104–105 D-Index: 33 scientists 106–107 D-Index: 35 scientists 108–109 D-Index: 20 scientists 110–111 D-Index: 38 scientists 112–113 D-Index: 19 scientists 114–115 D-Index: 28 scientists 116–117 D-Index: 13 scientists 118–119 D-Index: 23 scientists 120–121 D-Index: 16 scientists 122–123 D-Index: 15 scientists 124–125 D-Index: 11 scientists 126–127 D-Index: 21 scientists 128–129 D-Index: 7 scientists 130–131 D-Index: 13 scientists 132–133 D-Index: 14 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 9 scientists 138–139 D-Index: 8 scientists 140–141 D-Index: 16 scientists 142–143 D-Index: 7 scientists 144 D-Index: 7 scientists 145+ D-Index: 100 scientists
40 D-Index 145+

This scientist: 126 D-Index — 93rd percentile

93% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 145 D-Index or more.

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
  • 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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