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Robert J. Desnick

1970–2025 年に発表

194
論文数
35,063
被引用数
112
h 指数
192
i10 指数

被引用数

Robert J. Desnick の年別被引用数1970 年: 被引用 1 件1971 年: 被引用 11 件1972 年: 被引用 8 件1973 年: 被引用 9 件1975 年: 被引用 5 件1976 年: 被引用 6 件1977 年: 被引用 6 件1978 年: 被引用 7 件1979 年: 被引用 8 件1980 年: 被引用 2 件1981 年: 被引用 12 件1982 年: 被引用 12 件1983 年: 被引用 10 件1984 年: 被引用 8 件1985 年: 被引用 7 件1986 年: 被引用 13 件1987 年: 被引用 16 件1988 年: 被引用 18 件1989 年: 被引用 21 件1990 年: 被引用 48 件1991 年: 被引用 61 件1992 年: 被引用 50 件1993 年: 被引用 42 件1994 年: 被引用 48 件1995 年: 被引用 72 件1996 年: 被引用 59 件1997 年: 被引用 76 件1998 年: 被引用 93 件1999 年: 被引用 92 件2000 年: 被引用 117 件2001 年: 被引用 165 件2002 年: 被引用 176 件2003 年: 被引用 198 件2004 年: 被引用 209 件2005 年: 被引用 164 件2006 年: 被引用 230 件2007 年: 被引用 242 件2008 年: 被引用 184 件2009 年: 被引用 264 件2010 年: 被引用 238 件2011 年: 被引用 204 件2012 年: 被引用 180 件2013 年: 被引用 202 件2014 年: 被引用 231 件2015 年: 被引用 245 件2016 年: 被引用 244 件2017 年: 被引用 207 件2018 年: 被引用 247 件2019 年: 被引用 769 件2020 年: 被引用 881 件2021 年: 被引用 888 件2022 年: 被引用 574 件2023 年: 被引用 425 件2024 年: 被引用 619 件2025 年: 被引用 231 件2026 年: 被引用 3 件1974 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 2,645 件、この内訳の 30.8%イギリス: 引用元論文 700 件、この内訳の 8.2%ドイツ: 引用元論文 535 件、この内訳の 6.2%イタリア: 引用元論文 498 件、この内訳の 5.8%フランス: 引用元論文 364 件、この内訳の 4.2%カナダ: 引用元論文 363 件、この内訳の 4.2%オランダ: 引用元論文 290 件、この内訳の 3.4%スペイン: 引用元論文 271 件、この内訳の 3.2%中国: 引用元論文 259 件、この内訳の 3%日本: 引用元論文 231 件、この内訳の 2.7%オーストラリア: 引用元論文 227 件、この内訳の 2.7%スイス: 引用元論文 162 件、この内訳の 1.9%
0%30.8%その他 23.7%

機関

分野

  • Medicine51.7%
  • Biochemistry, Genetics and Molecular Biology37.5%
  • Pharmacology, Toxicology and Pharmaceutics4.1%
  • Neuroscience1.9%
  • Immunology and Microbiology0.9%
  • Environmental Science0.9%
  • その他3%

トピック

  • 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%
  • その他76.5%

共著者

全論文

検索で開く
  1. Fabry disease revisited: Management and treatment recommendations for adult patients

    著者: 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 被引用: 644

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

    著者: 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 被引用: 408

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

    著者: 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 被引用: 1,546

  4. Types A and B Niemann-Pick disease

    著者: Edward H. Schuchman, Robert J. Desnick - Molecular Genetics and Metabolism 2016 被引用: 334

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

    著者: 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 被引用: 364

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

    著者: 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 被引用: 257

  7. Afamelanotide for Erythropoietic Protoporphyria

    著者: 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 被引用: 279

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

    著者: 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 被引用: 209

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

    著者: 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 被引用: 176

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

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

  11. Agalsidase-Beta Therapy for Advanced Fabry Disease

    著者: 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 被引用: 566

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

    著者: 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 被引用: 769

  13. A Pharmacogenetic versus a Clinical Algorithm for Warfarin Dosing

    著者: 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 被引用: 749

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

    著者: 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 被引用: 331

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

    著者: 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 被引用: 169

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

    著者: 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 被引用: 55

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

    著者: 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 被引用: 366

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

    著者: 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 被引用: 115

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

    著者: 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 被引用: 620

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

    著者: 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 被引用: 369

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

    著者: 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 被引用: 166

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

    著者: Maurizio Pieroni, Mehdi Namdar, Iacopo Olivotto, Robert J. Desnick - European Heart Journal 2024 被引用: 49

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

    著者: 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 被引用: 32

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

    著者: 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 被引用: 435