Robert J. Desnick

45.7k total citations · 5 hit papers
564 papers, 30.4k citations indexed

About

Robert J. Desnick is a scholar working on Physiology, Molecular Biology and Organic Chemistry. According to data from OpenAlex, Robert J. Desnick has authored 564 papers receiving a total of 30.4k indexed citations (citations by other indexed papers that have themselves been cited), including 297 papers in Physiology, 270 papers in Molecular Biology and 111 papers in Organic Chemistry. Recurrent topics in Robert J. Desnick's work include Lysosomal Storage Disorders Research (286 papers), Porphyrin Metabolism and Disorders (125 papers) and Carbohydrate Chemistry and Synthesis (111 papers). Robert J. Desnick is often cited by papers focused on Lysosomal Storage Disorders Research (286 papers), Porphyrin Metabolism and Disorders (125 papers) and Carbohydrate Chemistry and Synthesis (111 papers). Robert J. Desnick collaborates with scholars based in United States, Japan and Germany. Robert J. Desnick's co-authors include Edward H. Schuchman, David F. Bishop, Christine M. Eng, Bruce D. Gelb, Ruth Kornreich, William R. Wilcox, Makiko Yasuda, Dominique P. Germain, Kenneth H. Astrin and Maryam Banikazemi and has published in prestigious journals such as Science, New England Journal of Medicine and Proceedings of the National Academy of Sciences.

In The Last Decade

Robert J. Desnick

555 papers receiving 29.3k citations

Hit Papers

5 papers align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

2001 1.1k citations Christine M. Eng, William R. Wilcox et al. profile →
Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

1996 767 citations Robert J. Desnick et al. profile →
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

2006 713 citations Makiko Yasuda, Robert J. Desnick et al. profile →
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy

2003 530 citations Robert J. Desnick et al. Annals of Internal Medicine profile →
Fabry disease revisited: Management and treatment recommendations for adult patients

2018 401 citations Alberto Ortíz, Dominique P. Germain et al. Molecular Genetics and Metabolism profile →

Peers

Countries citing papers authored by Robert J. Desnick

Since Specialization

Citations

This map shows the geographic impact of Robert J. Desnick's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Robert J. Desnick with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Robert J. Desnick more than expected).

Fields of papers citing papers by Robert J. Desnick

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Robert J. Desnick. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Robert J. Desnick. The network helps show where Robert J. Desnick may publish in the future.

Co-authorship network of co-authors of Robert J. Desnick

This figure shows the co-authorship network connecting the top 25 collaborators of Robert J. Desnick. A scholar is included among the top collaborators of Robert J. Desnick based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Robert J. Desnick. Robert J. Desnick is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Reduction in kidney function decline and risk of severe clinical events in agalsidase beta–treated Fabry disease patients: a matched analysis from the Fabry Registry 2024 ·Clinical Kidney Journal ·Julie L. Batista, Ali Hariri, Manish Maski, Susan Richards, (unknown), (unknown), Elvira Ponce, Christoph Wanner, Robert J. Desnick	4
2	Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study 2023 ·Journal of Medical Internet Research ·(unknown), Cristina Burroughs, Peter A. Merkel, Marc E. Rothenberg, Bruce C. Trapnell, Robert J. Desnick, Mustafa Şahin, Jeffrey P. Krischer	2
3	Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria 2023 ·Biomolecules ·Makiko Yasuda, Sang Mi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips	7
4	Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE 2020 ·Clinical Genetics ·Go Hun Seo, Tae Ho Kim, In Hee Choi, (unknown), Jungsul Lee, Sehwan Kim, (unknown), Arum Oh, (unknown), (unknown), 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	92
5	Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release 2020 ·Nature Communications ·H. Bailey, G.A. Bezerra, Jason R. Marcero, Siladitya Padhi, (unknown), Elzbieta Rembeza, Arijit Roy, David F. Bishop, Robert J. Desnick, Gopalakrishnan Bulusu, Harry A. Dailey, Wyatt W. Yue	28
6	Agalsidase-Beta Therapy for Advanced Fabry Disease 2020 ·Annals of Internal Medicine ·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	1
7	Many pitfalls in diagnosis of acute intermittent porphyria: a case report 2018 ·BMC Research Notes ·(unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Dana Doheny, Robert J. Desnick	7
8	Fabry disease revisited: Management and treatment recommendations for adult patients breakdown → 2018 ·Molecular Genetics and Metabolism ·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	401
9	Congenital Erythropoietic Porphyria 2016 ·Angelika Erwin, Manisha Balwani, Robert J. Desnick	1
10	Amniotic Fluid Cells Are More Efficiently Reprogrammed to Pluripotency Than Adult Cells 2009 ·Cellular Reprogramming ·(unknown), Ioannis Karakikes, Lisa Edelmann, Robert J. Desnick, Thomas D. Kerenyi, Georges Khoueiry, James Lafferty, Joseph T. McGinn, Michael Brodman, Valentı́n Fuster, Roger J. Hajjar, (unknown)	10
11	Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A) 2009 ·Human Mutation ·Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ni‐Chung Lee, Shu-Chuan Chiang, Robert Dobrovolný, Ai-Chu Huang, Hui-Ying Yeh, (unknown), Shio‐Jean Lin, Teruo Kitagawa, Robert J. Desnick, Li‐Wen Hsu	263
12	22. Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases 2001 ·Advances in genetics ·Christine M. Eng, Robert J. Desnick	10
13	Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family 2000 ·American Journal of Medical Genetics ·A. Al Aqeel, (unknown), (unknown), Robert J. Gorlin, Robert J. Desnick, John A. Martignetti	37
14	Cytogenetic results from the U.S. collaborative study on CVS 1992 ·Prenatal Diagnosis ·David H. Ledbetter, (unknown), Joe Leigh Simpson, Mitchell S. Golbus, Eugene Pergament, L. Jackson, M J Mahoney, Robert J. Desnick, Joseph D. Schulman, Karen L. Copeland, (unknown), (unknown), S. A. Schonberg, A. Babu, Avirachan T. Tharapel, Andrew Dorfmann, Herbert A. Lubs, G G Rhoads, Sarah Fowler, Felix de la Cruz	264
15	First‐trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study 1992 ·Prenatal Diagnosis ·Robert J. Desnick, Jane L. Schuette, Mitchell S. Golbus, L. Jackson, Herbert A. Lubs, David H. Ledbetter, M J Mahoney, Eugene Pergament, Joe Leigh Simpson, (unknown), Sarah Fowler, G G Rhoads, Felix de la Cruz	16
16	Treatment of genetic diseases 1991 ·Churchill Livingstone eBooks ·Robert J. Desnick	42
17	Mucopolysaccharidosis in a Domestic Short-Haired Cat—A Disease Distinct from That Seen in the Siamese Cat 1979 ·Journal of the American Veterinary Medical Association ·Mark E. Haskins, Peter F. Jezyk, Robert J. Desnick, (unknown), Donald F. Patterson	15
18	Abbreviated PR interval in mannosidosis 1978 ·The Journal of Pediatrics ·J. L. Mehta, Robert J. Desnick	1
19	A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay. 1977 ·Munich Personal RePEc Archive (Ludwig Maximilian University of Munich) ·Robert J. Desnick, (unknown), (unknown)	6
20	Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease. 1976 ·Munich Personal RePEc Archive (Ludwig Maximilian University of Munich) ·Monte A. Del Monte, David B. Johnson, Edward Cotlier, Robert J. Desnick	3

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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