Val C. Sheffield
1989–2024 年に発表
- 180
- 論文数
- 37,191
- 被引用数
- 109
- h 指数
- 174
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology52.9%
- Medicine24.9%
- Neuroscience12.2%
- Nursing1.9%
- Agricultural and Biological Sciences1.8%
- Immunology and Microbiology1.7%
- その他4.6%
トピック
- Retinal Development and Disorders5.3%
- Genetic and Kidney Cyst Diseases4.9%
- Retinal Diseases and Treatments3.6%
- Glaucoma and retinal disorders3.3%
- Genetics and Neurodevelopmental Disorders2.6%
- Autism Spectrum Disorder Research2.4%
- その他77.9%
共著者
- Edwin M. Stone87
- Charles Searby39
- Darryl Nishimura27
- Terry A. Braun20
- Qihong Zhang19
- Rivka Carmi18
- Todd E. Scheetz18
- Ruth E. Swiderski16
- Seongjin Seo16
- Thomas L. Casavant16
- Wallace L.M. Alward15
- John H. Fingert14
- Kevin Bugge14
- Samuel G. Jacobson14
- Robert F. Mullins13
- Diane C. Slusarski12
- Gulab Zode11
- Kamal Rahmouni11
- Khalil Elbedour11
- Geoffrey M. Duyk10
- John S. Beck10
- Arlene V. Drack9
- Brian E. Nichols9
- Luan M. Streb9
全論文
- Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
著者: Edwin M. Stone, Jeaneen L. Andorf, S. Scott Whitmore, Adam P. DeLuca, Joseph C. Giacalone, Luan M. Streb, Terry A. Braun, Robert F. Mullins, Todd E. Scheetz, Val C. Sheffield, Budd A. Tucker - Ophthalmology 2017 被引用: 468
- A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
著者: Maxence V. Nachury, Alexander V. Loktev, Qihong Zhang, Christopher J. Westlake, Johan Peränen, Andreas Merdes, Diane C. Slusarski, Richard H. Scheller, J. Fernando Bazán, Val C. Sheffield, Peter K. Jackson - Cell 2007 被引用: 1,396
- Gene therapy and gene correction: targets, progress, and challenges for treating human diseases
著者: Matthew R. Cring, Val C. Sheffield - Gene Therapy 2020 被引用: 156
- Identification of a Gene That Causes Primary Open Angle Glaucoma
著者: Edwin M. Stone, John H. Fingert, Wallace L.M. Alward, Thai Nguyen, Jon R. Polansky, Sara L.F. Sunden, Darryl Nishimura, Abbot F. Clark, Arne Nystuen, Brian E. Nichols, David A. Mackey, Robert Ritch, Jeffrey W. Kalenak, E. Randy Craven, Val C. Sheffield - Science 1997 被引用: 1,450
- Regulation of gene expression in the mammalian eye and its relevance to eye disease
著者: Todd E. Scheetz, Kwang‐Youn A. Kim, Ruth E. Swiderski, Alisdair R. Philp, Terry A. Braun, Kevin L. Knudtson, Anne M. Dorrance, Gerald F. DiBona, Jian Huang, Thomas L. Casavant, Val C. Sheffield, Edwin M. Stone - National Academy of Sciences, Proceedings of the National Academy of Sciences 2006 被引用: 299
- CRISPR-Cas9–based treatment of myocilin-associated glaucoma
著者: Ankur Jain, Gulab Zode, Ramesh B. Kasetti, Fei A. Ran, Winston X. Yan, Tasneem P. Sharma, Kevin Bugge, Charles Searby, John H. Fingert, Feng Zhang, Abbot F. Clark, Val C. Sheffield - National Academy of Sciences, Proceedings of the National Academy of Sciences 2017 被引用: 198
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
著者: Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazán, Priya Kulkarni, Francesc R. García-Gonzalo, Allen D Seol, John F. O’Toole, Susanne Held, Heiko Reutter, William S. Lane, Muhammad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson - Cell 2011 被引用: 630
- Hyperphagia: Current concepts and future directions proceedings of the 2nd international conference on hyperphagia
著者: Steven B. Heymsfield, Nicole M. Avena, Leslie J. Baier, Phillip J. Brantley, George A. Bray, Lisa C. Burnett, Merlin G. Butler, Daniel J. Driscoll, Dieter Egli, Joel K. Elmquist, Janice L. Forster, Anthony P. Goldstone, Linda M. Gourash, Frank L. Greenway, Joan C. Han, James G. Kane, Rudolph L. Leibel, Ruth J. F. Loos, Ann Scheimann, Christian L. Roth, Randy J. Seeley, Val C. Sheffield, M. Tauber, Christian Vaisse, Liheng Wang, Robert A. Waterland, Rachel Wevrick, Jack A. Yanovski, Andrew R. Zinn - Obesity 2014 被引用: 128
- ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load
著者: Ramesh B. Kasetti, Pinkal D. Patel, Prabhavathi Maddineni, Shruti Patil, Charles Kiehlbauch, J. Cameron Millar, Charles Searby, Vijay Krishna Raghunathan, Val C. Sheffield, Gulab Zode - Nature Communications 2020 被引用: 93
- Homozygosity mapping with SNP arrays identifies TRIM32 , an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene ( BBS11 )
著者: Annie Chiang, John S. Beck, Hsan-Jan Yen, Marwan K. Tayeh, Todd E. Scheetz, Ruth E. Swiderski, Darryl Nishimura, Terry A. Braun, Kwang‐Youn A. Kim, Jian Huang, Khalil Elbedour, Rivka Carmi, Diane C. Slusarski, Thomas L. Casavant, Edwin M. Stone, Val C. Sheffield - National Academy of Sciences, Proceedings of the National Academy of Sciences 2006 被引用: 430
- Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
著者: Seongjin Seo, Deng‐Fu Guo, Kevin Bugge, Donald A. Morgan, Kamal Rahmouni, Val C. Sheffield - Human Molecular Genetics 2009 被引用: 321
- The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane
著者: Deng‐Fu Guo, Huxing Cui, Qihong Zhang, Donald A. Morgan, Daniel R. Thedens, Darryl Nishimura, Justin L. Grobe, Val C. Sheffield, Kamal Rahmouni - PLoS Genetics 2016 被引用: 133
- Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations
著者: John H. Fingert, Elise Héon, J. M. Liebmann, Tetsuya Yamamoto, Jamie E. Craig, JL Rait, K. Kawase, Sek Tien Hoh, Yvonne M. Buys, Joanne L. Dickinson, Robin R. Hockey, Donna Williams-Lyn, Graham E. Trope, Y Kitazawa, Robert Ritch, David A. Mackey, Wallace L.M. Alward, Val C. Sheffield, Edwin M. Stone - Human Molecular Genetics 1999 被引用: 552
- Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome
著者: Christopher J. Westlake, Lisa M. Baye, Maxence V. Nachury, Kevin J. Wright, Karen E. Ervin, Lilian Phu, Cécile Chalouni, John S. Beck, Donald S. Kirkpatrick, Diane C. Slusarski, Val C. Sheffield, Richard H. Scheller, Peter K. Jackson - National Academy of Sciences, Proceedings of the National Academy of Sciences 2011 被引用: 431
- Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination
著者: Karl W. Broman, Jeffrey C. Murray, Val C. Sheffield, R. White, James L. Weber - The American Journal of Human Genetics 1998 被引用: 1,097
- Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma
著者: Gulab Zode, Arti B. Sharma, Xiaolei Lin, Charles Searby, Kevin Bugge, Gun Hee Kim, Abbot F. Clark, Val C. Sheffield - Journal of Clinical Investigation 2014 被引用: 173
- Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome
著者: Poppy Datta, Chantal Allamargot, Joseph S. Hudson, Emily K. Andersen, Sajag Bhattarai, Arlene V. Drack, Val C. Sheffield, Seongjin Seo - National Academy of Sciences, Proceedings of the National Academy of Sciences 2015 被引用: 164
- Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms
著者: Colleen M McDowell, Krishnakumar Kizhatil, Michael H. Elliott, Darryl R. Overby, Joseph M. Sherwood, J. Cameron Millar, Markus H. Kuehn, Gulab Zode, Ted S. Acott, Michael G. Anderson, Sanjoy K. Bhattacharya, Jacques Bertrand, Terete Borrás, Diane E. Bovenkamp, Lin Cheng, John Danias, Michael L. De Ieso, Yiqin Du, Jennifer A. Faralli, Rudolf Fuchshofer, Preethi S. Ganapathy, Haiyan Gong, Samuel Herberg, Humberto Hernandez, Peter Humphries, Simon W. M. John, Paul L. Kaufman, Kate E. Keller, Mary J. Kelley, Ruth A. Kelly, David Križaj, Ajay Kumar, Brian C. Leonard, Raquel L. Lieberman, Paloma B. Liton, Yutao Liu, Katy C. Liu, Navita N. López, Weiming Mao, Timur Mavlyutov, Fiona McDonnell, Gillian J. McLellan, Philip Mzyk, Andrews Nartey, Louis R. Pasquale, Gaurang Patel, Padmanabhan P. Pattabiraman, Donna M. Peters, Vijaykrishna Raghunathan, Ponugoti Vasantha Rao, Naga Pradeep Rayana, Urmimala Raychaudhuri, Ester Reina‐Torres, Ruiyi Ren, Douglas J. Rhee, Uttio Roy Chowdhury, John R. Samples, E. Griffen Samples, Najam A. Sharif, Joel S. Schuman, Val C. Sheffield, Cooper H. Stevenson, Avinash Soundararajan, Preeti Subramanian, Chenna Kesavulu Sugali, Yang Sun, Carol B. Toris, Karen Y. Torrejon, Amir Vahabikashi, Janice A. Vranka, Ting Wang, Colin E. Willoughby, Xin Chen, Hongmin Yun, Hao F. Zhang, Michael P. Fautsch, Ernst R. Tamm, Abbot F. Clark, C. Ross Ethier, W. Daniel Stamer - Investigative Ophthalmology & Visual Science 2022 被引用: 55
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
著者: Neena B. Haider, Samuel G. Jacobson, Artur V. Cideciyan, Ruth E. Swiderski, Luan M. Streb, Charles Searby, Gretel Beck, Robin R. Hockey, David B. Hanna, Susan W. Gorman, David M. Duhl, Rivka Carmi, Jean Bennett, Richard G. Weleber, Gerald A. Fishman, Alan F. Wright, Edwin M. Stone, Val C. Sheffield - Nature Genetics 2000 被引用: 508
- A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
著者: Edwin M. Stone, Andrew Lotery, Francis L. Munier, Elise Héon, Bertrand Piguet, Robyn H. Guymer, Kimberlie Vandenburgh, Pascal Cousin, Darryl Nishimura, Ruth E. Swiderski, Giuliana Silvestri, David A. Mackey, Gregory S. Hageman, Alan C. Bird, Val C. Sheffield, Daniel F. Schorderet - Nature Genetics 1999 被引用: 495
- An ARL3–UNC119–RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium
著者: Kevin J. Wright, Lisa M. Baye, Anique Olivier-Mason, Saikat Mukhopadhyay, Liyun Sang, Mandy Kwong, Weiru Wang, Pamela R. Pretorius, Val C. Sheffield, Piali Sengupta, Diane C. Slusarski, Peter K. Jackson - Genes & Development 2011 被引用: 243
- Mutation in TDRD9 causes non-obstructive azoospermia in infertile men
著者: Maram Arafat, Iris Har‐Vardi, Avi Harlev, Eliahu Levitas, Atif Zeadna, Maram Abofoul‐Azab, Victor Dyomin, Val C. Sheffield, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari - Journal of Medical Genetics 2017 被引用: 139
- Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo
著者: Wei Zhu, Oliver W. Gramlich, Lauren A. Laboissonniere, Ankur Jain, Val C. Sheffield, Jeffrey M. Trimarchi, Budd A. Tucker, Markus H. Kuehn - National Academy of Sciences, Proceedings of the National Academy of Sciences 2016 被引用: 123
- Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper
著者: Kelly C. Falls-Hubert, Aimee L. Butler, Kai Gui, Michael Anderson, Mengshi Li, Jeffrey M. Stolwijk, Samuel N. Rodman, Shane R. Solst, Ann Tomanek‐Chalkley, Charles Searby, Val C. Sheffield, Vanessa Sandfort, H Schmidt, Michael L. McCormick, Brian Wels, Bryan G. Allen, Garry R. Buettner, Michael K. Schultz, Douglas R. Spitz - Free Radical Biology and Medicine 2020 被引用: 43
