J.R. Lupski

1.5k total citations
22 papers, 1.1k citations indexed

About

J.R. Lupski is a scholar working on Molecular Biology, Cellular and Molecular Neuroscience and Genetics. According to data from OpenAlex, J.R. Lupski has authored 22 papers receiving a total of 1.1k indexed citations (citations by other indexed papers that have themselves been cited), including 14 papers in Molecular Biology, 10 papers in Cellular and Molecular Neuroscience and 7 papers in Genetics. Recurrent topics in J.R. Lupski's work include Hereditary Neurological Disorders (10 papers), Botulinum Toxin and Related Neurological Disorders (4 papers) and Genomic variations and chromosomal abnormalities (4 papers). J.R. Lupski is often cited by papers focused on Hereditary Neurological Disorders (10 papers), Botulinum Toxin and Related Neurological Disorders (4 papers) and Genomic variations and chromosomal abnormalities (4 papers). J.R. Lupski collaborates with scholars based in United States, Italy and United Kingdom. J.R. Lupski's co-authors include Gary M. Franklin, G. Gronseth, Kinga Szigeti, James F. Howard, Michael Polydefkis, A. J. Sumner, Giuseppe Lauria, Rupert G. Miller, L. J. Kinsella and D. N. Herrmann and has published in prestigious journals such as Nucleic Acids Research, Neurology and The Journal of Infectious Diseases.

In The Last Decade

J.R. Lupski

22 papers receiving 1.0k citations

Peers

J.R. Lupski
P. C. Blumbergs Australia
A Uchino Japan
Adelaine Stocks United States
Nathan Malamud United States
J.R. Lupski
Citations per year, relative to J.R. Lupski J.R. Lupski (= 1×) peers Germán Morís

Countries citing papers authored by J.R. Lupski

Since Specialization
Citations

This map shows the geographic impact of J.R. Lupski'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 J.R. Lupski with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites J.R. Lupski more than expected).

Fields of papers citing papers by J.R. Lupski

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of J.R. Lupski

This figure shows the co-authorship network connecting the top 25 collaborators of J.R. Lupski. A scholar is included among the top collaborators of J.R. Lupski 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 J.R. Lupski. J.R. Lupski is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Bilir, Bülent, Zühal Yapıcı, Cengiz Yalçınkaya, et al.. (2012). High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease. Clinical Genetics. 83(1). 66–72. 9 indexed citations
2.
Dharmadhikari, Avinash V., Przemysław Szafrański, Richard Person, et al.. (2012). Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Human Molecular Genetics. 21(15). 3345–3355. 17 indexed citations
3.
Bainbridge, Matthew N., et al.. (2012). Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clinical Genetics. 83(5). 457–461. 21 indexed citations
5.
England, J. D., G. Gronseth, Gary M. Franklin, et al.. (2009). Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Autonomic Testing, Nerve Biopsy, and Skin Biopsy (An Evidence‐Based Review). PM&R. 1(1). 14–22. 145 indexed citations
6.
England, John D., G. Gronseth, Gary M. Franklin, et al.. (2008). Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence‐based review). Muscle & Nerve. 39(1). 106–115. 54 indexed citations
7.
England, John D., G. Gronseth, Gary M. Franklin, et al.. (2008). Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) [RETIRED]. Neurology. 72(2). 177–184. 236 indexed citations
8.
England, J. D., G. Gronseth, Gary M. Franklin, et al.. (2008). Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review). Neurology. 72(2). 185–192. 173 indexed citations
9.
Kabzińska, Dagmara, H Drac, K Rowińska-Marcińska, et al.. (2007). Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.. PubMed. 26(2). 108–11. 9 indexed citations
10.
Leipoldt, M., Martin Erdel, Marta Smyk, et al.. (2006). Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clinical Genetics. 71(1). 67–75. 82 indexed citations
11.
Szigeti, Krisztián, et al.. (2004). Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clinical Genetics. 66(2). 128–136. 35 indexed citations
12.
Katsanis, Nicholas, et al.. (2001). Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clinical Genetics. 59(6). 424–429. 55 indexed citations
14.
Katsanis, Nicholas, et al.. (2000). Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. Human Genetics. 106(1). 66–72. 24 indexed citations
15.
Bolino, Alessandra, et al.. (2000). DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible of Charcot-Marie-Tooth disease type 4B. Oxford University Research Archive (ORA) (University of Oxford). 2. 372. 3 indexed citations
17.
Garcia, Carlos A., et al.. (1995). Clinical variability in two pairs of identical twins with the Charcot‐Marie‐Tooth disease type 1A duplication. Neurology. 45(11). 2090–2093. 76 indexed citations
18.
Roa, B. B., Laura E. Warner, & J.R. Lupski. (1994). Mutational analysis of the myelin protein zero (MPZ) gene associated with Charcot-Marie-Tooth neuropathy type 1B. The American Journal of Human Genetics. 55. 1 indexed citations
19.
Franco, Brunella, Diego E. Rincón-Limas, Y. Nakamura, Pragna I. Patel, & J.R. Lupski. (1991). AnMspI RFLP at the D17S258 locus. Nucleic Acids Research. 19(8). 1980–1980. 3 indexed citations
20.
Lupski, J.R. & Ralph D. Feigin. (1988). Molecular Evolution of Pathogenic Escherichia coli. The Journal of Infectious Diseases. 157(6). 1120–1123. 7 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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