James R. Lupski

87.4k total citations · 11 hit papers
579 papers, 38.9k citations indexed

About

James R. Lupski is a scholar working on Molecular Biology, Genetics and Cellular and Molecular Neuroscience. According to data from OpenAlex, James R. Lupski has authored 579 papers receiving a total of 38.9k indexed citations (citations by other indexed papers that have themselves been cited), including 321 papers in Molecular Biology, 315 papers in Genetics and 120 papers in Cellular and Molecular Neuroscience. Recurrent topics in James R. Lupski's work include Genomic variations and chromosomal abnormalities (202 papers), Hereditary Neurological Disorders (112 papers) and Genomics and Rare Diseases (108 papers). James R. Lupski is often cited by papers focused on Genomic variations and chromosomal abnormalities (202 papers), Hereditary Neurological Disorders (112 papers) and Genomics and Rare Diseases (108 papers). James R. Lupski collaborates with scholars based in United States, United Kingdom and Canada. James R. Lupski's co-authors include Paweł Stankiewicz, Feng Zhang, Claudia M.B. Carvalho, James Versalovic, Frans J. de Bruijn, Ken Inoue, Grzegorz Ira, P. J. Hastings, Wenli Gu and Pragna I. Patel and has published in prestigious journals such as Nature, Science and New England Journal of Medicine.

In The Last Decade

James R. Lupski

570 papers receiving 37.9k 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.

Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction

1994 1.4k citations James Versalovic, James R. Lupski et al. profile →
DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 1.0k citations James R. Lupski et al. profile →
Mechanisms of change in gene copy number

2009 882 citations James R. Lupski et al. profile →
Copy Number Variation in Human Health, Disease, and Evolution

2009 869 citations James R. Lupski et al. profile →
Structural Variation in the Human Genome and its Role in Disease

2010 767 citations Paweł Stankiewicz, James R. Lupski Annual Review of Medicine profile →
Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration

1997 687 citations Richard A. Lewis, James R. Lupski et al. Science profile →
Genome architecture, rearrangements and genomic disorders

2002 639 citations Paweł Stankiewicz, James R. Lupski profile →
A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

2007 629 citations Claudia M.B. Carvalho, James R. Lupski et al. profile →
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

2009 602 citations James R. Lupski et al. profile →
Mechanisms underlying structural variant formation in genomic disorders

2016 426 citations Claudia M.B. Carvalho, James R. Lupski profile →
Non-coding genetic variants in human disease: Figure 1.

2015 374 citations James R. Lupski et al. profile →

Peers

Countries citing papers authored by James R. Lupski

Since Specialization

Citations

This map shows the geographic impact of James 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 James 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 James R. Lupski more than expected).

Fields of papers citing papers by James R. Lupski

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

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

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

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders 2024 ·BMC Medical Genomics ·(unknown), Davut Pehli̇van, Richard A. Gibbs, Osman Uğur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban‐Akdemir	0
2	P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant 2023 ·SHILAP Revista de lepidopterología ·Nara Sobreira, Sean J. Griffith, Corina Antonescu, Laura Vail, Jennifer E. Posey, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh, Renan Paulo Martin	1
3	De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome 2022 ·American Journal of Medical Genetics Part A ·(unknown), Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban‐Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica Van Ziffle, Dan Doherty, James R. Lupski, Joseph T.C. Shieh	3
4	Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family 2022 ·American Journal of Medical Genetics Part A ·(unknown), Daniel G. Calame, (unknown), Tadahiro Mitani, Jawid M. Fatih, Isabella Herman, Haowei Du, Zeynep Coban‐Akdemir, Dana Marafi, Shalini N. Jhangiani, Jennifer E. Posey, Richard A. Gibbs, (unknown), (unknown), James R. Lupski, Davut Pehli̇van	3
5	Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits 2022 ·Genome Medicine ·Bo Yuan, (unknown), Nurit Assia Batzir, (unknown), Hongzheng Dai, Wenmiao Zhu, (unknown), Chin‐To Fong, J. Lloyd Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine M. Eng, Chad A. Shaw, James R. Lupski, Pengfei Liu	2
6	Short stature and combined immunodeficiency associated with mutations in RGS10 2021 ·Science Signaling ·Iván K. Chinn, Zhihui Xie, Eunice C. Chan, Bianca M. Nagata, Alexey Koval, Wei‐Sheng Chen, Fan Zhang, Sundar Ganesan, (unknown), Motoshi Suzuki, Glenn Nardone, Ian N. Moore, Vladimir L. Katanaev, (unknown), Chengyu Liu, James R. Lupski, Jordan S. Orange, Kirk M. Druey	3
7	Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant 2021 ·Annals of Clinical and Translational Neurology ·Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya Mehta, Carrie Mohila, (unknown), Timothy Lotze, Davut Pehli̇van, Adekunle M. Adesina, James R. Lupski	0
8	Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome 2020 ·American Journal of Medical Genetics Part A ·K. Taylor Wild, (unknown), Elizabeth Bhoj, Haowei Du, Shalini N. Jhangiani, Jennifer E. Posey, James R. Lupski, Daryl A. Scott, Elaine H. Zackai	6
9	Cytogenetically visible inversions are formed by multiple molecular mechanisms 2020 ·Human Mutation ·Maria Pettersson, Christopher M. Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M. Breman, Sau Wai Cheung, Ana Cristina Victorino Krepischi, Carla Rosenberg, James R. Lupski, (unknown), Lovisa Lovmar, (unknown), Elisabeth Syk Lundberg, Daniel Nilsson, Claudia M.B. Carvalho, Anna Lindstrand	11
10	Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity 2019 ·Clinical Genetics ·Justyna A. Karolak, Przemysław Szafrański, (unknown), Chirag Patel, (unknown), Esther Kinning, Kate Chandler, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, James R. Lupski, Edwina J. Popek, Paweł Stankiewicz	12
11	Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS) 2019 ·JBMR Plus ·Shan Chen, Mahim Jain, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Philippe M. Campeau, Robert F. Klein, Carrie M. Nielson, Hongzheng Dai, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, Eric Orwoll, James R. Lupski, Jennifer E. Posey, Brendan Lee	1
12	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI 2015 ·American Journal of Medical Genetics Part A ·Yavuz Bayram, Hatip Aydın, Tomasz Gambin, Zeynep Coban‐Akdemir, Mehmed M. Atik, Ender Karaca, Ali̇ Karaman, Davut Pehli̇van, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski	9
13	Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death 2015 ·Molecular Genetics & Genomic Medicine ·Philip M. Boone, Bo Yuan, Shen Gu, Zhiwei Ma, Tomasz Gambin, Claudia Gonzaga‐Jauregui, Mahim Jain, (unknown), Janson J. White, Shalini N. Jhangiani, Kimberly Walker, Qiaoyan Wang, Donna M. Muzny, Richard A. Gibbs, J. Fielding Hejtmancik, James R. Lupski, Jennifer E. Posey, Richard A. Lewis	25
14	Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome 2014 ·The Journal of Clinical Endocrinology & Metabolism ·Ender Karaca, Ramazan Büyükkaya, Davut Pehli̇van, Wu‐Lin Charng, Kürşat Oğuz Yaykaşlı, Yavuz Bayram, Tomasz Gambin, Marjorie Withers, Mehmed M. Atik, İlknur Arslanoğlu, Semih Bolu, Serkan Erdin, (unknown), (unknown), Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski	60
15	Human Genome Sequencing in Health and Disease 2011 ·Annual Review of Medicine ·Claudia Gonzaga‐Jauregui, James R. Lupski, Richard A. Gibbs	288
16	Structural Variation in the Human Genome and its Role in Disease breakdown → 2010 ·Annual Review of Medicine ·Paweł Stankiewicz, James R. Lupski	767
17	Genomic Disorders 2006 ·Humana Press eBooks ·James R. Lupski, Paweł Stankiewicz, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown)	21
18	The Severe Forms of Retinal Dystrophies Are Frequently Caused by a New Class of Mutations Affecting ABCA4 Localization 2005 ·Investigative Ophthalmology & Visual Science ·Wojciech Wiszniewski, (unknown), Alexander N. Yatsenko, Milan Jamrich, Theodore G. Wensel, Richard A. Lewis, James R. Lupski	1
19	Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder 2001 ·Science ·Nicholas Katsanis, Stephen J. Ansley, José L. Badano, Erica R. Eichers, Richard A. Lewis, Bethan E. Hoskins, Peter Scambler, William S. Davidson, Philip L. Beales, James R. Lupski	438
20	Vertical Transmission of Citrobacter diversus Documented by DNA Fingerprinting 1995 ·Infection Control and Hospital Epidemiology ·(unknown), Thearith Koeuth, James Versalovic, Charles R. Woods, James R. Lupski	9

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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