James R. Lupski

1982–2025 年に発表

別表記
James R Lupski
449
論文数
81,260
被引用数
152
h 指数
437
i10 指数

被引用数

James R. Lupski の年別被引用数1964 年: 被引用 1 件1972 年: 被引用 2 件1983 年: 被引用 3 件1984 年: 被引用 5 件1985 年: 被引用 7 件1986 年: 被引用 11 件1987 年: 被引用 14 件1988 年: 被引用 8 件1989 年: 被引用 11 件1990 年: 被引用 13 件1991 年: 被引用 6 件1992 年: 被引用 37 件1993 年: 被引用 75 件1994 年: 被引用 74 件1995 年: 被引用 122 件1996 年: 被引用 135 件1997 年: 被引用 141 件1998 年: 被引用 236 件1999 年: 被引用 258 件2000 年: 被引用 332 件2001 年: 被引用 284 件2002 年: 被引用 290 件2003 年: 被引用 360 件2004 年: 被引用 353 件2005 年: 被引用 386 件2006 年: 被引用 518 件2007 年: 被引用 517 件2008 年: 被引用 663 件2009 年: 被引用 891 件2010 年: 被引用 969 件2011 年: 被引用 865 件2012 年: 被引用 784 件2013 年: 被引用 750 件2014 年: 被引用 692 件2015 年: 被引用 906 件2016 年: 被引用 814 件2017 年: 被引用 849 件2018 年: 被引用 728 件2019 年: 被引用 2,503 件2020 年: 被引用 2,239 件2021 年: 被引用 2,109 件2022 年: 被引用 1,663 件2023 年: 被引用 980 件2024 年: 被引用 1,873 件2025 年: 被引用 666 件2026 年: 被引用 24 件1965〜1971 年は被引用が無いため表示していません1973〜1982 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 8,096 件、この内訳の 28.2%イギリス: 引用元論文 2,411 件、この内訳の 8.4%ドイツ: 引用元論文 1,694 件、この内訳の 5.9%中国: 引用元論文 1,518 件、この内訳の 5.3%フランス: 引用元論文 1,401 件、この内訳の 4.9%カナダ: 引用元論文 1,309 件、この内訳の 4.6%イタリア: 引用元論文 1,075 件、この内訳の 3.8%オランダ: 引用元論文 1,043 件、この内訳の 3.6%オーストラリア: 引用元論文 843 件、この内訳の 2.9%スペイン: 引用元論文 706 件、この内訳の 2.5%日本: 引用元論文 663 件、この内訳の 2.3%ベルギー: 引用元論文 598 件、この内訳の 2.1%
0%28.2%その他 25.5%

分野

  • Biochemistry, Genetics and Molecular Biology62.2%
  • Medicine19.7%
  • Neuroscience8%
  • Immunology and Microbiology4.3%
  • Agricultural and Biological Sciences3.1%
  • Environmental Science0.6%
  • その他2.1%

トピック

  • Genomics and Rare Diseases5.8%
  • Genomic variations and chromosomal abnormalities5.7%
  • Genetics and Neurodevelopmental Disorders2.8%
  • Genomics and Phylogenetic Studies2.3%
  • Chromosomal and Genetic Variations2.2%
  • Congenital heart defects research1.8%
  • その他79.4%

共著者

全論文

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  1. TLR7 gain-of-function genetic variation causes human lupus

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Daniel G. Calame, Timothy Lotze, James R. Lupski, Huihua Ding, Tomalika R. Ullah, Giles Walters, Mark E. Koina, Matthew Cook, Nan Shen, Carmen de Lucas Collantes, Ben Corry, Michael P. Gantier, Vicki Athanasopoulos, Carola G. Vinuesa - Nature 2022 被引用: 590

  2. Non-coding genetic variants in human disease: Figure 1.

    著者: , - Human Molecular Genetics 2015 被引用: 657

  3. Mechanisms underlying structural variant formation in genomic disorders

    著者: , - Nature Reviews Genetics 2016 被引用: 820

  4. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , - New England Journal of Medicine 2013 被引用: 1,975

  5. Copy Number Variation in Human Health, Disease, and Evolution

    著者: , , , - Annual Review of Genomics and Human Genetics 2009 被引用: 1,247

  6. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

    著者: , , , , , , , , , , , , , , , , , , , , - New England Journal of Medicine 2016 被引用: 775

  7. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng - JAMA 2014 被引用: 1,401

  8. Mechanisms of change in gene copy number

    著者: , , , - Nature Reviews Genetics 2009 被引用: 1,340

  9. Reanalysis of Clinical Exome Sequencing Data

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Mary Kay Koenig, Andrea M. Lewis, Marvin R. Natowicz, Pedro Mancías, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary J. Vernon, Crescenda L Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema R. Lalani, Chad A. Shaw, Christine M. Eng, James R. Lupski, Yaping Yang - New England Journal of Medicine 2019 被引用: 298

  10. Structural Variation in the Human Genome and its Role in Disease

    著者: , - Annual Review of Medicine 2010 被引用: 1,225

  11. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

    著者: , , , , , , , , , , , , , , , , , , - Nature Genetics 1997 被引用: 1,437

  12. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Suzanne M. Leal, Murat Günel, Shrikant Mane, Richard A. Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R. Lupski, Richard P. Lifton, David Valle, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2015 被引用: 688

  13. Use of Exome Sequencing for Infants in Intensive Care Units

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani - JAMA Pediatrics 2017 被引用: 431

  14. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Communications 2020 被引用: 100

  15. A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

    著者: , , - PLoS Genetics 2009 被引用: 847

  16. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Feroz R. Papa, Donna M. Muzny, Noah Zaitlen, Suzanne M. Leal, Claudia Gonzaga‐Jauregui, Eric Boerwinkle, N. Tony Eissa, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Anthony K. Shum - Nature Genetics 2015 被引用: 399

  17. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

    著者: , , , , , , , , , , , , - Nature 2007 被引用: 511

  18. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Luca Basso‐Ricci, Maria Serena Chiriacò, Radovan Dvorský, Lorenza Putignani, Rita Carsetti, Petra Janning, Asbjørg Stray‐Pedersen, Hans Christian Erichsen, AnnaCarin Horne, Yenan T. Bryceson, Lamberto Torralba‐Raga, Kim Ramme, Vittorio Rosti, Claudia Bracaglia, Virginia Messia, Paolo Palma, Andrea Finocchi, Franco Locatelli, Iván K. Chinn, James R. Lupski, Emily M. Mace, Caterina Cancrini, Alessandro Aiuti, Mohammad Reza Ahmadian, Jordan S. Orange, Fabrizio De Benedetti, Marco Tartaglia - The Journal of Experimental Medicine 2019 被引用: 203

  19. Centers for Mendelian Genomics: A decade of facilitating gene discovery

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Larry Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey Hall, Adam Hansen, Tamar Harel, Arif Harmanci, Isabella Herman, Kurt N. Hetrick ほか 142 名 - Genetics in Medicine 2022 被引用: 80

  20. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Henrik Hjorth‐Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv Osnes, Mari Ann Kulseth, Trine Prescott, Cecilie F. Rustad, Ketil Heimdal, John W. Belmont, Nicholas L. Rider, Javier Chinen, Tram N. Cao, Eric A. Smith, María Soledad Caldirola, Liliana Bezrodnik, Saúl Oswaldo Lugo Reyes, Francisco Espinosa‐Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, M. Cecilia Poli, José Luis Franco, Claudia Milena Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan K. Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yeşil, Hasibe Artaç, Yavuz Bayram, Mehmed M. Atik, Mohammad K. Eldomery, Mohammad Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor Wei Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M. Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski - Journal of Allergy and Clinical Immunology 2016 被引用: 280

  21. The complete genome of an individual by massively parallel DNA sequencing

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature 2008 被引用: 1,843

  22. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

    著者: , , , , , - Nature Genetics 2009 被引用: 531

  23. A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Alexander T. Lin-Moore, Robin D. Clark, Cynthia J. Curry, Nichole Link, Karen L. Schulze, Eric Boerwinkle, William B. Dobyns, Rando Allikmets, Richard A. Gibbs, Rui Chen, James R. Lupski, Michael F. Wangler, Hugo J. Bellen - Cell 2014 被引用: 401

  24. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Ferda Özkınay, Vehap Topçu, Şükrü Candan, Alper Han Çebi, Mevlit Íkbal, Elif Yılmaz Güleç, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coşkun, Salih Cicek, Kadri Karaer, Asuman Koparır, Mehmet Buğrahan Düz, Emre Kırat, Elif Fenercioğlu, Hakan Ulucan, Mehmet Seven, Tülay Güran, Nursel Elçioğlu, Mahmut Selman Yıldırım, Dilek Aktaş, Mehmet Alikaşifoğlu, Mehmet Türe, Tahsin Yakut, John D. Overton, Adnan Yüksel, Mustafa Özen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R. Lupski - Neuron 2015 被引用: 340