Val C. Sheffield
Active 1989–2024
- 180
- Papers
- 37,191
- Citations
- 109
- h-index
- 174
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology52.9%
- Medicine24.9%
- Neuroscience12.2%
- Nursing1.9%
- Agricultural and Biological Sciences1.8%
- Immunology and Microbiology1.7%
- Other4.6%
Topics
- 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%
- Other77.9%
Coauthors
- 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
All papers
- Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Authors: 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 cited by 468
- A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
Authors: 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 cited by 1,396
- Gene therapy and gene correction: targets, progress, and challenges for treating human diseases
Authors: Matthew R. Cring, Val C. Sheffield - Gene Therapy 2020 cited by 156
- Identification of a Gene That Causes Primary Open Angle Glaucoma
Authors: 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 cited by 1,450
- Regulation of gene expression in the mammalian eye and its relevance to eye disease
Authors: 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 cited by 299
- CRISPR-Cas9–based treatment of myocilin-associated glaucoma
Authors: 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 cited by 198
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Authors: 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 cited by 630
- Hyperphagia: Current concepts and future directions proceedings of the 2nd international conference on hyperphagia
Authors: 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 cited by 128
- ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load
Authors: 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 cited by 93
- Homozygosity mapping with SNP arrays identifies TRIM32 , an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene ( BBS11 )
Authors: 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 cited by 430
- Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
Authors: Seongjin Seo, Deng‐Fu Guo, Kevin Bugge, Donald A. Morgan, Kamal Rahmouni, Val C. Sheffield - Human Molecular Genetics 2009 cited by 321
- The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane
Authors: 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 cited by 133
- Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations
Authors: 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 cited by 552
- Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome
Authors: 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 cited by 431
- Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination
Authors: Karl W. Broman, Jeffrey C. Murray, Val C. Sheffield, R. White, James L. Weber - The American Journal of Human Genetics 1998 cited by 1,097
- Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma
Authors: 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 cited by 173
- Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome
Authors: 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 cited by 164
- Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms
Authors: 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 cited by 55
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
Authors: 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 cited by 508
- A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Authors: 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 cited by 495
- An ARL3–UNC119–RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium
Authors: 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 cited by 243
- Mutation in TDRD9 causes non-obstructive azoospermia in infertile men
Authors: 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 cited by 139
- Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo
Authors: 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 cited by 123
- Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper
Authors: 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 cited by 43
