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C. Thomas Caskey

Active 1964–2020

Also published as
C.Thomas Caskey
115
Papers
37,119
Citations
96
h-index
115
i10-index

Citations

Citations per year for C. Thomas Caskey1967: 3 citations1968: 8 citations1969: 16 citations1970: 21 citations1971: 16 citations1972: 11 citations1973: 14 citations1974: 17 citations1975: 14 citations1976: 17 citations1977: 13 citations1978: 8 citations1979: 16 citations1980: 13 citations1981: 5 citations1982: 9 citations1983: 31 citations1984: 43 citations1985: 53 citations1986: 72 citations1987: 62 citations1988: 109 citations1989: 151 citations1990: 183 citations1991: 213 citations1992: 304 citations1993: 386 citations1994: 360 citations1995: 311 citations1996: 313 citations1997: 368 citations1998: 284 citations1999: 308 citations2000: 415 citations2001: 354 citations2002: 328 citations2003: 331 citations2004: 258 citations2005: 250 citations2006: 199 citations2007: 200 citations2008: 191 citations2009: 172 citations2010: 211 citations2011: 159 citations2012: 159 citations2013: 157 citations2014: 163 citations2015: 110 citations2016: 95 citations2017: 136 citations2018: 128 citations2019: 488 citations2020: 472 citations2021: 437 citations2022: 336 citations2023: 209 citations2024: 297 citations2025: 116 citations2026: 2 citations

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 4,505 citing papers, 40.9% of this breakdownUnited Kingdom: 868 citing papers, 7.9% of this breakdownFrance: 500 citing papers, 4.5% of this breakdownGermany: 496 citing papers, 4.5% of this breakdownCanada: 494 citing papers, 4.5% of this breakdownJapan: 421 citing papers, 3.8% of this breakdownItaly: 376 citing papers, 3.4% of this breakdownChina: 375 citing papers, 3.4% of this breakdownNetherlands: 340 citing papers, 3.1% of this breakdownAustralia: 266 citing papers, 2.4% of this breakdownSpain: 192 citing papers, 1.8% of this breakdownSwitzerland: 185 citing papers, 1.7% of this breakdown
0%40.9%Other 18.1%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology60.7%
  • Medicine18.9%
  • Neuroscience14.3%
  • Immunology and Microbiology1.7%
  • Agricultural and Biological Sciences1.6%
  • Computer Science0.4%
  • Other2.4%

Topics

  • Genetics and Neurodevelopmental Disorders5.4%
  • Genetic Neurodegenerative Diseases3.5%
  • RNA and protein synthesis mechanisms2.7%
  • Muscle Physiology and Disorders2.4%
  • RNA Research and Splicing2.4%
  • Autism Spectrum Disorder Research2.3%
  • Other81.3%

Coauthors

All papers

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  1. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

    Authors: Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe, Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti, Orly Reiner, Stephen Richards, M F Victoria, Fuping Zhang, Bert E. Eussen, Gert‐Jan B. van Ommen, Lau A.J. Blonden, Gregory J. Riggins, Jane L. Chastain, Catherine B. Kunst, H. Galjaard, C. Thomas Caskey, David L. Nelson, Ben A. Oostra, Stephen T. Warren - Cell 1991 cited by 3,524

  2. Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk

    Authors: Elizabeth T. Cirulli, Lining Guo, Christine Leon Swisher, Naisha Shah, Lei Huang, Lori Napier, Ewen F. Kirkness, Tim D. Spector, C. Thomas Caskey, Bernard Thorens, J. Craig Venter, Amalio Telenti - Cell Metabolism 2018 cited by 405

  3. Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

    Authors: Tao Long, Michael Hicks, Hung‐Chun Yu, William Biggs, Ewen F. Kirkness, Cristina Menni, Jonas Zierer, Kerrin S. Small, Massimo Mangino, Helen Messier, Suzanne Brewerton, Yaron Turpaz, B Perkins, Anne M. Evans, Luke A. D. Miller, Lining Guo, C. Thomas Caskey, Nicholas J. Schork, Chad Garner, Tim D. Spector, J. Craig Venter, Amalio Telenti - Nature Genetics 2017 cited by 485

  4. Absence of expression of the FMR-1 gene in fragile X syndrome

    Authors: Maura Pieretti, Fuping Zhang, Ying‐Hui Fu, Stephen T. Warren, Ben A. Oostra, C. Thomas Caskey, David L. Nelson - Cell 1991 cited by 1,485

  5. An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

    Authors: Ying‐Hui Fu, Antonio Pizzuti, Raymond G. Fenwick, Julia King, Sudha Rajnarayan, Patrick W. Dunne, J. Dubel, Nasser Ghanem, Tetsuo Ashizawa, Peter J. de Jong, Bé Wieringa, Robert G. Korneluk, M. Benjamin Perryman, Henry F. Epstein, C. Thomas Caskey - Science 1992 cited by 1,467

  6. Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes

    Authors: Haibao Tang, Ewen F. Kirkness, Christoph Lippert, William Biggs, Martin M. Fabani, Ernesto Guzmán, Smriti Ramakrishnan, Victor Lavrenko, Boyko Kakaradov, Claire Hou, Barry Hicks, David Heckerman, Franz Josef Och, C. Thomas Caskey, J. Craig Venter, Amalio Telenti - The American Journal of Human Genetics 2017 cited by 214

  7. Two independent mutational events in the loss of urate oxidase during hominoid evolution

    Authors: Xiangwei Wu, Donna M. Muzny, Cheng Chi Lee, C. Thomas Caskey - Journal of Molecular Evolution 1992 cited by 539

  8. Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

    Authors: Ying‐Chen Claire Hou, Hung‐Chun Yu, Rick Martin, Elizabeth T. Cirulli, Natalie M. Schenker-Ahmed, Michael Hicks, Isaac Cohen, Thomas J. Jönsson, Robyn Heister, Lori Napier, Christine Leon Swisher, Saints Dominguez, Haibao Tang, Weizhong Li, Bradley A. Perkins, Jaime Barea, Christina Rybak, Emily Smith, Keegan Duchicela, Michael Doney, Pamila Brar, Nathaniel Hernandez, Ewen F. Kirkness, Andrew M. Kahn, J. Craig Venter, David S. Karow, C. Thomas Caskey - National Academy of Sciences, Proceedings of the National Academy of Sciences 2020 cited by 142

  9. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

    Authors: Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti, Maura Pieretti, James S. Sutcliffe, Stephen Richards, Annemieke J.M.H. Verkert, Jeanette J. A. Holden, Raymond G. Fenwick, Stephen T. Warren, Ben A. Oostra, David L. Nelson, C. Thomas Caskey - Cell 1991 cited by 2,101

  10. Identification of the gene responsible for Best macular dystrophy

    Authors: Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall, Wen Li, Guochun Xie, Towa Marknell, Ola Sandgren, Kristina Forsman, Gösta Holmgren, Sten Andréasson, Mihailo Vujic, Arthur A. Bergen, Valarie McGarty-Dugan, David J. Figueroa, Christopher P. Austin, Michael L. Metzker, C. Thomas Caskey, Claes Wadelius - Nature Genetics 1998 cited by 686

  11. Identification of Misclassified ClinVar Variants via Disease Population Prevalence

    Authors: Naisha Shah, Ying‐Chen Claire Hou, Hung‐Chun Yu, Rachana Sainger, C. Thomas Caskey, J. Craig Venter, Amalio Telenti - The American Journal of Human Genetics 2018 cited by 146

  12. Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

    Authors: Orly Reiner, Romeo Carrozzo, Ying H. Shen, M Wehnert, Fabrizia Faustinella, William B. Dobyns, C. Thomas Caskey, David H. Ledbetter - Nature 1993 cited by 1,076

  13. Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice.

    Authors: Verne M. Chapman, Darla R. Miller, Don Armstrong, C. Thomas Caskey - National Academy of Sciences, Proceedings of the National Academy of Sciences 1989 cited by 227

  14. Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

    Authors: Zhongying Mo, Xiaobei Zhao, Huaqing Liu, Qinghua Hu, Xu‐Qiao Chen, Jessica Pham, Na Wei, Ze Liu, Jiadong Zhou, Robert W. Burgess, Samuel L. Pfaff, C. Thomas Caskey, Chengbiao Wu, Ge Bai, Xiang‐Lei Yang - Nature Communications 2018 cited by 116

  15. An unsupervised learning approach to identify novel signatures of health and disease from multimodal data

    Authors: Ilan Shomorony, Elizabeth T. Cirulli, Lei Huang, Lori Napier, Robyn Heister, Michael Hicks, Isaac Cohen, Hung‐Chun Yu, Christine Leon Swisher, Natalie M. Schenker-Ahmed, Weizhong Li, Karen E. Nelson, Pamila Brar, Andrew M. Kahn, Timothy D. Spector, C. Thomas Caskey, J. Craig Venter, David S. Karow, Ewen F. Kirkness, Naisha Shah - Genome Medicine 2020 cited by 55

  16. Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy

    Authors: Eric P. Hoffman, Kenneth H. Fischbeck, Robert H. Brown, Margaret A. Johnson, Rosella Medori, John D. Loire, John B. Harris, R Waterston, Michael H. Brooke, Linda A. Specht, William J. Kupsky, Jeffrey S. Chamberlain, C. Thomas Caskey, Frederic Shapiro, Louis M. Kunkel - New England Journal of Medicine 1988 cited by 927

  17. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

    Authors: Darren G. Monckton, L. Wong, Tetsuo Ashizawa, C. Thomas Caskey - Human Molecular Genetics 1995 cited by 325

  18. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

    Authors: Christian P. Schaaf, Manuel L. Gonzalez‐Garay, Fan Xia, Lorraine Potocki, Karen W. Gripp, Baili Zhang, Brock A. Peters, Mark A. McElwain, Radoje Drmanac, Arthur L. Beaudet, C. Thomas Caskey, Yaping Yang - Nature Genetics 2013 cited by 305

  19. Plasma metabolomic profiles enhance precision medicine for volunteers of normal health

    Authors: Lining Guo, Michael V. Milburn, John Ryals, Shaun C. Lonergan, Matthew Mitchell, Jacob Wulff, Danny C. Alexander, Anne M. Evans, Brandi Bridgewater, Luke A. D. Miller, Manuel L. Gonzalez‐Garay, C. Thomas Caskey - National Academy of Sciences, Proceedings of the National Academy of Sciences 2015 cited by 174

  20. DNA methylation represses FMR-1 transcription in fragile X syndrome

    Authors: James S. Sutcliffe, David L. Nelson, Fuping Zhang, Maura Pieretti, C. Thomas Caskey, Debra Saxe, Stephen T. Warren - Human Molecular Genetics 1992 cited by 681

  21. Hyperuricemia and urate nephropathy in urate oxidase-deficient mice.

    Authors: Xiangwei Wu, Maki Wakamiya, Sukeshi Vaishnav, Robert S. Geske, Charles A. Montgomery, Peter P. Jones, Allan Bradley, C. Thomas Caskey - National Academy of Sciences, Proceedings of the National Academy of Sciences 1994 cited by 290

  22. Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults

    Authors: Bradley A. Perkins, C. Thomas Caskey, Pamila Brar, Eric Dec, David S. Karow, Andrew M. Kahn, Ying‐Chen Claire Hou, Naisha Shah, Debbie Boeldt, Erin Coughlin, Gabby Hands, Victor Lavrenko, Hung‐Chun Yu, Andrea Procko, Julia Appis, Anders M. Dale, Lining Guo, Thomas J. Jönsson, Bryan M. Wittmann, István Bartha, Smriti Ramakrishnan, Axel Bernal, James B. Brewer, Suzanne Brewerton, William Biggs, Yaron Turpaz, J. Craig Venter - National Academy of Sciences, Proceedings of the National Academy of Sciences 2018 cited by 101

  23. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats.

    Authors: Al Edwards, Andrew B. Civitello, Holly A. Hammond, C. Thomas Caskey - 1991 cited by 1,159

  24. Characterization of the human cysteinyl leukotriene CysLT1 receptor

    Authors: Kevin R. Lynch, Gary P. O’Neill, Qingyun Liu, Dong‐Soon Im, Nicole Sawyer, Kathleen M. Metters, Nathalie Coulombe, Mark Abramovitz, David J. Figueroa, Zhizhen Zeng, Brett Connolly, Chang Bai, Christopher P. Austin, Anne Châteauneuf, Rino Stocco, Gillian Greig, Stacia Kargman, Shelley B. Hooks, Elizabeth M. Hosfield, David L. Williams, Anthony W. Ford‐Hutchinson, C. Thomas Caskey, Jilly F. Evans - Nature 1999 cited by 973