Robert J. Hopkin

12.3k total citations · 2 hit papers
189 papers, 5.8k citations indexed

About

Robert J. Hopkin is a scholar working on Physiology, Genetics and Molecular Biology. According to data from OpenAlex, Robert J. Hopkin has authored 189 papers receiving a total of 5.8k indexed citations (citations by other indexed papers that have themselves been cited), including 66 papers in Physiology, 61 papers in Genetics and 55 papers in Molecular Biology. Recurrent topics in Robert J. Hopkin's work include Lysosomal Storage Disorders Research (60 papers), Glycogen Storage Diseases and Myoclonus (22 papers) and Genomic variations and chromosomal abnormalities (20 papers). Robert J. Hopkin is often cited by papers focused on Lysosomal Storage Disorders Research (60 papers), Glycogen Storage Diseases and Myoclonus (22 papers) and Genomic variations and chromosomal abnormalities (20 papers). Robert J. Hopkin collaborates with scholars based in United States, France and United Kingdom. Robert J. Hopkin's co-authors include Yuri A. Zárate, William R. Wilcox, Dominique P. Germain, Christine M. Eng, Howard M. Saal, Elizabeth K. Schorry, Maryam Banikazemi, Katherine B. Sims, Michael Mauer and Alberto Ortíz and has published in prestigious journals such as The Lancet, SHILAP Revista de lepidopterología and Blood.

In The Last Decade

Robert J. Hopkin

183 papers receiving 5.6k citations

Hit Papers

align trajectories sort by overperformance

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.

Fabry's disease

2008 531 citations Yuri A. Zárate, Robert J. Hopkin 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 — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Robert J. Hopkin United States	40	2.8k	1.5k	1.5k	1.2k	1.1k	189	5.8k
Christine M. Eng United States	34	2.7k 1.0×	1.3k 0.9×	1.3k 0.9×	984 0.8×	1.9k 1.6×	81	5.7k
Paige Kaplan United States	42	2.9k 1.0×	1.6k 1.1×	1.5k 1.0×	647 0.5×	841 0.7×	135	5.7k
Joel Charrow United States	46	4.1k 1.4×	1.5k 1.0×	2.8k 1.9×	1.2k 1.0×	664 0.6×	143	7.1k
J. E. Wraith United Kingdom	35	3.5k 1.2×	1.3k 0.9×	1.3k 0.9×	995 0.8×	336 0.3×	71	5.6k
Joseph Muenzer United States	40	5.2k 1.8×	1.4k 0.9×	2.3k 1.5×	1.8k 1.4×	742 0.6×	128	6.9k
Ans T. van der Ploeg Netherlands	50	6.5k 2.3×	1.8k 1.2×	1.5k 1.0×	4.3k 3.5×	628 0.5×	228	8.2k
Ni‐Chung Lee Taiwan	33	1.8k 0.6×	1.7k 1.1×	545 0.4×	1.0k 0.8×	798 0.7×	218	4.3k
Nathalie Guffon France	35	5.2k 1.8×	1.2k 0.8×	2.4k 1.6×	1.7k 1.4×	348 0.3×	138	6.5k
Emil Kakkis United States	37	3.5k 1.2×	1.1k 0.7×	1.7k 1.1×	1.2k 1.0×	582 0.5×	73	5.0k
Chester B. Whitley United States	39	3.5k 1.2×	1.6k 1.1×	1.4k 1.0×	908 0.7×	894 0.8×	201	5.1k

Countries citing papers authored by Robert J. Hopkin

Since Specialization

Citations

This map shows the geographic impact of Robert J. Hopkin'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. Hopkin 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. Hopkin more than expected).

Fields of papers citing papers by Robert J. Hopkin

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Robert J. Hopkin. 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. Hopkin. The network helps show where Robert J. Hopkin may publish in the future.

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

This figure shows the co-authorship network connecting the top 25 collaborators of Robert J. Hopkin. A scholar is included among the top collaborators of Robert J. Hopkin 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. Hopkin. Robert J. Hopkin 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

Zhang, Wenying, et al.. (2025). P189: Endocrinopathies in TAOK1-related neurodevelopmental disorders: An expanded case series on the evolution of symptoms in adolescents and young adults. Genetics in Medicine Open. 3. 102154–102154. 1 indexed citations

Wang, Xinjian, et al.. (2024). RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient. SHILAP Revista de lepidopterología. 12(11). e9537–e9537. 1 indexed citations

Sánchez, A.I., et al.. (2023). Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies. American Journal of Medical Genetics Part A. 194(2). 195–202. 2 indexed citations

Hopkin, Robert J., et al.. (2023). Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology. Annals of Human Genetics. 88(1). 86–100.

Magnusen, Albert Frank, Reena Rani, Luca Marsili, et al.. (2022). Targeting the Complement–Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy. International Journal of Molecular Sciences. 23(22). 14340–14340. 10 indexed citations

Baker, Elizabeth, Casey Brewer, Leonardo Ferreira, et al.. (2022). Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome. American Journal of Medical Genetics Part A. 191(2). 526–539. 2 indexed citations

Baker, Elizabeth, Ben Pode‐Shakked, Laura Cross, et al.. (2022). PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. American Journal of Medical Genetics Part A. 188(11). 3262–3277. 7 indexed citations

Li, Cindy, Ankit K. Desai, Punita Gupta, et al.. (2021). Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genetics in Medicine. 23(5). 845–855. 33 indexed citations

Weaver, K. Nicole, Bonnie Sullivan, Barbara A. Chini, et al.. (2021). Robin sequence without cleft palate: Genetic diagnoses and management implications. American Journal of Medical Genetics Part A. 188(1). 160–177. 6 indexed citations

10.

Hopkin, Robert J., Patricia L. Bender, Bonnie Sullivan, et al.. (2020). Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. American Journal of Medical Genetics Part A. 185(2). 413–423. 7 indexed citations

11.

Germain, Dominique P., João Paulo Oliveira, Daniel G. Bichet, et al.. (2020). Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup. Journal of Medical Genetics. 57(8). 542–551. 51 indexed citations

12.

Lesmana, Harry, Seyed Ali Hosseini, T. Burrow, et al.. (2018). CNTNAP1-Related Congenital Hypomyelinating Neuropathy. Pediatric Neurology. 93. 43–49. 14 indexed citations

13.

Powell, Adam W., et al.. (2018). Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease. American Journal of Medical Genetics Part A. 176(9). 1852–1857. 14 indexed citations

14.

Ortíz, Alberto, Dominique P. Germain, Robert J. Desnick, et al.. (2018). Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism. 123(4). 416–427. 401 indexed citations breakdown →

15.

Lesmana, Harry, Lisa Dyer, Xia Li, et al.. (2017). Alu element insertion inPKLRgene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients. Human Mutation. 39(3). 389–393. 5 indexed citations

16.

Clemens, Paula R., Pascal Laforêt, Katherine Kacena, et al.. (2017). Long-Term Efficacy of Alglucosidase Alfa in Late-Onset Pompe Disease (P1.120). Neurology. 88(16_supplement). 1 indexed citations

17.

Weaver, K. Nicole, Robert J. Hopkin, Kristen L. Sund, et al.. (2014). Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. American Journal of Medical Genetics Part A. 164(4). 1062–1068. 15 indexed citations

18.

Prows, Cynthia A., Robert J. Hopkin, Sivia Barnoy, & Márcia Van Riper. (2013). An Update of Childhood Genetic Disorders. Journal of Nursing Scholarship. 45(1). 34–42. 4 indexed citations

19.

Prada, Carlos E., et al.. (2011). Lethal presentation of neurofibromatosis and Noonan syndrome. American Journal of Medical Genetics Part A. 155(6). 1360–1366. 16 indexed citations

20.

Multhaupt‐Buell, Trisha, Anne M. Lovell, Lisa Mills, Kevin E. Stanford, & Robert J. Hopkin. (2007). Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status. Genetics in Medicine. 9(2). 101–107. 11 indexed citations

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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