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Robert J. Desnick

Active 1970–2025

194
Papers
35,063
Citations
112
h-index
192
i10-index

Citations

Citations per year for Robert J. Desnick1970: 1 citations1971: 11 citations1972: 8 citations1973: 9 citations1975: 5 citations1976: 6 citations1977: 6 citations1978: 7 citations1979: 8 citations1980: 2 citations1981: 12 citations1982: 12 citations1983: 10 citations1984: 8 citations1985: 7 citations1986: 13 citations1987: 16 citations1988: 18 citations1989: 21 citations1990: 48 citations1991: 61 citations1992: 50 citations1993: 42 citations1994: 48 citations1995: 72 citations1996: 59 citations1997: 76 citations1998: 93 citations1999: 92 citations2000: 117 citations2001: 165 citations2002: 176 citations2003: 198 citations2004: 209 citations2005: 164 citations2006: 230 citations2007: 242 citations2008: 184 citations2009: 264 citations2010: 238 citations2011: 204 citations2012: 180 citations2013: 202 citations2014: 231 citations2015: 245 citations2016: 244 citations2017: 207 citations2018: 247 citations2019: 769 citations2020: 881 citations2021: 888 citations2022: 574 citations2023: 425 citations2024: 619 citations2025: 231 citations2026: 3 citations1974: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,645 citing papers, 30.8% of this breakdownUnited Kingdom: 700 citing papers, 8.2% of this breakdownGermany: 535 citing papers, 6.2% of this breakdownItaly: 498 citing papers, 5.8% of this breakdownFrance: 364 citing papers, 4.2% of this breakdownCanada: 363 citing papers, 4.2% of this breakdownNetherlands: 290 citing papers, 3.4% of this breakdownSpain: 271 citing papers, 3.2% of this breakdownChina: 259 citing papers, 3% of this breakdownJapan: 231 citing papers, 2.7% of this breakdownAustralia: 227 citing papers, 2.7% of this breakdownSwitzerland: 162 citing papers, 1.9% of this breakdown
0%30.8%Other 23.7%

Institutions

Fields

  • Medicine51.7%
  • Biochemistry, Genetics and Molecular Biology37.5%
  • Pharmacology, Toxicology and Pharmaceutics4.1%
  • Neuroscience1.9%
  • Immunology and Microbiology0.9%
  • Environmental Science0.9%
  • Other3%

Topics

  • Lysosomal Storage Disorders Research10.6%
  • Trypanosoma species research and implications3%
  • Cellular transport and secretion3%
  • Glycogen Storage Diseases and Myoclonus2.4%
  • Carbohydrate Chemistry and Synthesis2.3%
  • Sphingolipid Metabolism and Signaling2.2%
  • Other76.5%

Coauthors

All papers

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  1. Fabry disease revisited: Management and treatment recommendations for adult patients

    Authors: Alberto Ortíz, Dominique P. Germain, Robert J. Desnick, Juan Politei, Michael Mauer, Alessandro P. Burlina, Christine M. Eng, Robert J. Hopkin, Dawn A. Laney, Aleš Linhart, Stephen Waldek, Eric Wallace, Frank Weidemann, William R. Wilcox - Molecular Genetics and Metabolism 2018 cited by 644

  2. Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

    Authors: Ken Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu, Adam Schaffner, Nathan Pankratz, Nai-Yun Hsu, Ling-Shiang Chuang, Shai Carmi, Nicole Villaverde, Xianting Li, Manual Rivas, Adam P. Levine, Xiuliang Bao, Philippe Ronel Labrias, Talin Haritunians, Darren Ruane, Kyle Gettler, Ernie Chen, Dalin Li, Elena Schiff, Nikolas Pontikos, Nir Barzilai, Steven R. Brant, Susan Bressman, Adam S. Cheifetz, Lorraine N. Clark, Mark J. Daly, Robert J. Desnick, Richard H. Duerr, Seymour Katz, Todd Lencz, Richard H. Myers, Harry Ostrer, Laurie J. Ozelius, Haydeh Payami, Yakov Peter, John D. Rioux, Anthony W. Segal, William K. Scott, Mark S. Silverberg, Jeffery M. Vance, Iban Ubarretxena‐Belandia, Tatiana Foroud, Gil Atzmon, Itsik Pe’er, Yiannis A. Ioannou, Dermot McGovern, Zhenyu Yue, Eric E. Schadt, Judy H. Cho, Inga Peter - Science Translational Medicine 2018 cited by 408

  3. Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

    Authors: Christine M. Eng, Nathalie Guffon, William R. Wilcox, Dominique P. Germain, Philip Lee, Steve Waldek, Louis R. Caplan, Gabor E. Linthorst, Robert J. Desnick - New England Journal of Medicine 2001 cited by 1,546

  4. Types A and B Niemann-Pick disease

    Authors: Edward H. Schuchman, Robert J. Desnick - Molecular Genetics and Metabolism 2016 cited by 334

  5. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

    Authors: Dominique P. Germain, Joel Charrow, Robert J. Desnick, Nathalie Guffon, Judy Kempf, Robin Lachmann, Roberta Lemay, Gabor E. Linthorst, Seymour Packman, C. Ronald Scott, Stephen Waldek, David G. Warnock, Neal J. Weinreb, William R. Wilcox - Journal of Medical Genetics 2015 cited by 364

  6. Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria

    Authors: Eliane Sardh, Pauline Harper, Manisha Balwani, Penelope E. Stein, David C. Rees, D. Montgomery Bissell, Robert J. Desnick, Charles Parker, John D. Phillips, Herbert L. Bonkovsky, Daphne Vassiliou, Craig Penz, Amy Chan-Daniels, Qiuling He, William Querbes, Kevin Fitzgerald, Jae Bum Kim, Pushkal Garg, Akshay Vaishnaw, Amy Simon, Karl E. Anderson - New England Journal of Medicine 2019 cited by 257

  7. Afamelanotide for Erythropoietic Protoporphyria

    Authors: Janneke G. Langendonk, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, A. Anstey, D. Montgomery Bissell, Joseph R. Bloomer, Chris Edwards, Norbert Neumann, Charles Parker, John D. Phillips, Henry W. Lim, Iltefat Hamzavi, Jean‐Charles Deybach, Raili Kauppinen, Lesley E. Rhodes, Jorge Frank, Gillian Murphy, Francois Karstens, Eric J.G. Sijbrands, Felix W.M. de Rooij, Mark Lebwohl, Hetanshi Naik, Colin R. Goding, J.H.P. Wilson, Robert J. Desnick - New England Journal of Medicine 2015 cited by 279

  8. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

    Authors: Elfrida R. Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, Evan Katz, Farhana Pruthi, Sarah Bond, Benjamin Bronfin, Hadis Williams, Julie Yu, Daniel G. Bichet, Dominique P. Germain, Roberto Giugliani, Derralynn Hughes, Raphael Schiffmann, William R. Wilcox, Robert J. Desnick, John Kirk, Jay Barth, Carrolee Barlow, Kenneth J. Valenzano, Jeff Castelli, David J. Lockhart - Genetics in Medicine 2016 cited by 209

  9. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

    Authors: Alberto Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J. Desnick, Alessandro P. Burlina - Journal of Inherited Metabolic Disease 2017 cited by 176

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

    Authors: Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tükel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick - The American Journal of Human Genetics 2006 cited by 1,000

  11. Agalsidase-Beta Therapy for Advanced Fabry Disease

    Authors: Maryam Banikazemi, Jan Bultas, Stephen Waldek, William R. Wilcox, Chester B. Whitley, Timothy J. McDonald, Richard S. Finkel, Seymour Packman, Daniel G. Bichet, David G. Warnock, Robert J. Desnick - Annals of Internal Medicine 2007 cited by 566

  12. Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy

    Authors: Robert J. Desnick, Roscoe Brady, John Barranger, Allan J. Collins, Dominique P. Germain, Martin Goldman, Gregory Grabowski, Seymour Packman, William R. Wilcox - Annals of Internal Medicine 2003 cited by 769

  13. A Pharmacogenetic versus a Clinical Algorithm for Warfarin Dosing

    Authors: Stephen E. Kimmel, Benjamin French, Scott E. Kasner, Julie A. Johnson, Jeffrey L. Anderson, Brian F. Gage, Yves Rosenberg, Charles S. Eby, Rosemary Madigan, Robert B. McBane, Sherif Z. Abdel‐Rahman, Scott M. Stevens, Steven H. Yale, Emile R. Mohler, Margaret C. Fang, Vinay Shah, Richard B. Horenstein, Nita A. Limdi, James A.S. Muldowney, Jaspal Gujral, Patrice Delafontaine, Robert J. Desnick, Thomas L. Ortel, Henny H. Billett, Robert C. Pendleton, Nancy L. Geller, Jonathan L. Halperin, Samuel Z. Goldhaber, Michael D. Caldwell, Robert M. Califf, Jonas H. Ellenberg - New England Journal of Medicine 2013 cited by 749

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

    Authors: Beth L. Thurberg, Helmut G. Rennke, Robert B. Colvin, Steven Dikman, Ronald E. Gordon, A. Bernard Collins, Robert J. Desnick, M. W. O'CALLAGHAN - Kidney International 2002 cited by 331

  15. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

    Authors: Go Hun Seo, Tae Ho Kim, In Hee Choi, Jung‐Young Park, Jungsul Lee, Sehwan Kim, Dhong‐gun Won, Arum Oh, Yena Lee, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, Young Hee Yoon, Baik‐Lin Eun, Robert J. Desnick, Changwon Keum, Beom Hee Lee - Clinical Genetics 2020 cited by 169

  16. AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

    Authors: Makiko Yasuda, Marshall W. Huston, Silvère Pagant, Lin Gan, Susan S. Martin, Scott Sproul, Daniel A. Richards, Stephen J. Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler - Molecular Therapy — Methods & Clinical Development 2020 cited by 55

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

    Authors: Raphael Schiffmann, David G. Warnock, Maryam Banikazemi, Jan Bultas, Gabor E. Linthorst, Seymour Packman, S. A. Sørensen, William R. Wilcox, Robert J. Desnick - Nephrology Dialysis Transplantation 2009 cited by 366

  18. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

    Authors: Manisha Balwani, Hetanshi Naik, Karl E. Anderson, D. Montgomery Bissell, Joseph R. Bloomer, Herbert L. Bonkovsky, John D. Phillips, Jessica Overbey, Bruce Wang, Ashwani K. Singal, Lawrence U. Liu, Robert J. Desnick - JAMA Dermatology 2017 cited by 115

  19. Recommendations for the Diagnosis and Treatment of the Acute Porphyrias

    Authors: Karl E. Anderson, Joseph R. Bloomer, Herbert L. Bonkovsky, James P. Kushner, Claus A. Pierach, Neville R. Pimstone, Robert J. Desnick - Annals of Internal Medicine 2005 cited by 620

  20. Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    Authors: Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, Joseph S Salama, Ragan Hart, Brian H. Shirts, Mitzi L. Murray, Mari Tokita, Carlos J. Gallego, Daniel Seung Kim, James T. Bennett, David R. Crosslin, Jane Ranchalis, Kelly L. Jones, Elisabeth A. Rosenthal, Ella R. Jarvik, Andy Itsara, Emily H. Turner, Daniel S. Herman, Jennifer Schleit, Amber Burt, Seema M. Jamal, Jenica Abrudan, Andrew D. Johnson, Laura K. Conlin, Matthew C. Dulik, Avni Santani, Danielle R. Metterville, Melissa Kelly, Ann Katherine M. Foreman, Kristy Lee, Kent D. Taylor, Xiuqing Guo, Kristy Crooks, Lesli A. Kiedrowski, Leslie J. Raffel, Ora Gordon, Kalotina Machini, Robert J. Desnick, Leslie G. Biesecker, Steven A. Lubitz, Surabhi Mulchandani, Gregory M. Cooper, Steven Joffe, C. Sue Richards, Yaoping Yang, Jerome I. Rotter, Stephen S. Rich, Christopher J. O’Donnell, Jonathan S. Berg, Nancy B. Spinner, James P. Evans, Stephanie M. Fullerton, Kathleen A. Leppig, Robin L. Bennett, Thomas D. Bird, Virginia P. Sybert, William M. Grady, Holly K. Tabor, Jerry H. Kim, Michael J. Bamshad, Benjamin S. Wilfond, Arno G. Motulsky, C. Ronald Scott, Colin C. Pritchard, Tom Walsh, Wylie Burke, Wendy H. Raskind, Peter H. Byers, Fuki M. Hisama, Heidi L. Rehm, Debbie A. Nickerson, Gail P. Jarvik - Genome Research 2015 cited by 369

  21. Acute Intermittent Porphyria: Predicted Pathogenicity ofHMBSVariants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

    Authors: Brenden Chen, Constanza Solis‐Villa, Jörg Hakenberg, Wanqiong Qiao, Ramakrishnan Rajaram Srinivasan, Makiko Yasuda, Manisha Balwani, Dana Doheny, Inga Peter, Rong Chen, Robert J. Desnick - Human Mutation 2016 cited by 166

  22. Anderson–Fabry disease management: role of the cardiologist

    Authors: Maurizio Pieroni, Mehdi Namdar, Iacopo Olivotto, Robert J. Desnick - European Heart Journal 2024 cited by 49

  23. Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

    Authors: Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Frésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Flodérus, Caroline Schmitt, Laurent Gouya, Alexandre Colavin, Robert L. Nussbaum, Edith C. H. Friesema, Raili Kauppinen, Jordi To‐Figueras, Aasne K. Aarsand, Robert J. Desnick, Michael Garton, Frederick P. Roth - The American Journal of Human Genetics 2023 cited by 32

  24. Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease

    Authors: Dominique P. Germain, Stephen Waldek, Maryam Banikazemi, David A. Bushinsky, Joel Charrow, Robert J. Desnick, Philip Lee, Thomas Loew, Anouk C. Vedder, Rekha Abichandani, William R. Wilcox, Nathalie Guffon - Journal of the American Society of Nephrology 2007 cited by 435