C. Thomas Caskey
1964–2020 年に発表
- 別表記
- C.Thomas Caskey
- 115
- 論文数
- 37,119
- 被引用数
- 96
- h 指数
- 115
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology60.7%
- Medicine18.9%
- Neuroscience14.3%
- Immunology and Microbiology1.7%
- Agricultural and Biological Sciences1.6%
- Computer Science0.4%
- その他2.4%
トピック
- 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%
- その他81.3%
共著者
- Richard A. Gibbs10
- David L. Nelson8
- Jeffrey S. Chamberlain8
- Raymond G. Fenwick8
- J. Craig Venter7
- Qingyun Liu7
- Antonio Pizzuti6
- Arthur L. Beaudet6
- Holly A. Hammond6
- Tetsuo Ashizawa6
- Ying‐Hui Fu6
- A. Craig Chinault5
- Christopher P. Austin5
- David Konecki5
- Ewen F. Kirkness5
- Hung‐Chun Yu5
- Michael L. Metzker5
- Stephen T. Warren5
- Al Edwards4
- Amalio Telenti4
- Ben A. Oostra4
- Chang Bai4
- Cheng Chi Lee4
- David H. Ledbetter4
全論文
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
著者: 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 被引用: 3,524
- Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk
著者: 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 被引用: 405
- Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
著者: 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 被引用: 485
- Absence of expression of the FMR-1 gene in fragile X syndrome
著者: Maura Pieretti, Fuping Zhang, Ying‐Hui Fu, Stephen T. Warren, Ben A. Oostra, C. Thomas Caskey, David L. Nelson - Cell 1991 被引用: 1,485
- An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
著者: 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 被引用: 1,467
- Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
著者: 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 被引用: 214
- Two independent mutational events in the loss of urate oxidase during hominoid evolution
著者: Xiangwei Wu, Donna M. Muzny, Cheng Chi Lee, C. Thomas Caskey - Journal of Molecular Evolution 1992 被引用: 539
- Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
著者: 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 被引用: 142
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
著者: 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 被引用: 2,101
- Identification of the gene responsible for Best macular dystrophy
著者: 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 被引用: 686
- Identification of Misclassified ClinVar Variants via Disease Population Prevalence
著者: 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 被引用: 146
- Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
著者: Orly Reiner, Romeo Carrozzo, Ying H. Shen, M Wehnert, Fabrizia Faustinella, William B. Dobyns, C. Thomas Caskey, David H. Ledbetter - Nature 1993 被引用: 1,076
- Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice.
著者: Verne M. Chapman, Darla R. Miller, Don Armstrong, C. Thomas Caskey - National Academy of Sciences, Proceedings of the National Academy of Sciences 1989 被引用: 227
- Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
著者: 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 被引用: 116
- An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
著者: 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 被引用: 55
- Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy
著者: 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 被引用: 927
- Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
著者: Darren G. Monckton, L. Wong, Tetsuo Ashizawa, C. Thomas Caskey - Human Molecular Genetics 1995 被引用: 325
- Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
著者: 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 被引用: 305
- Plasma metabolomic profiles enhance precision medicine for volunteers of normal health
著者: 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 被引用: 174
- DNA methylation represses FMR-1 transcription in fragile X syndrome
著者: James S. Sutcliffe, David L. Nelson, Fuping Zhang, Maura Pieretti, C. Thomas Caskey, Debra Saxe, Stephen T. Warren - Human Molecular Genetics 1992 被引用: 681
- Hyperuricemia and urate nephropathy in urate oxidase-deficient mice.
著者: 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 被引用: 290
- Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
著者: 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 被引用: 101
- DNA typing and genetic mapping with trimeric and tetrameric tandem repeats.
著者: Al Edwards, Andrew B. Civitello, Holly A. Hammond, C. Thomas Caskey - 1991 被引用: 1,159
- Characterization of the human cysteinyl leukotriene CysLT1 receptor
著者: 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 被引用: 973
