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V. Sheffield · SciRah

Researcher profile · Semantic Scholar

V. Sheffield

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V. Sheffield — researcher profile on SciRah

h-index: 109
Works: 424
Citations: 43K

Most-cited papers

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
E. Stone, Jeaneen L. Andorf, S. Whitmore, Adam P. DeLuca +7 more
2017Ophthalmology (Rochester, Minn.)427 citations Open access
Semantic Scholar
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
C. Brownstein, A. Beggs, N. Homer, Barry Merriman +194 more
2014Genome Biology308 citations Open access
Semantic Scholar
CRISPR-Cas9–based treatment of myocilin-associated glaucoma
Ankur Jain, G. Zode, R. Kasetti, F. Ran +8 more
2017Proceedings of the National Academy of Sciences of the United States of America184 citations Open access
Semantic Scholar
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma.
G. Zode, A. Clark, V. Sheffield, Arti Sharma +4 more
2014Journal of Clinical Investigation162 citations Open access
Semantic Scholar
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome
P. Datta, C. Allamargot, Joseph S. Hudson, Emily K. Andersen +4 more
2015Proceedings of the National Academy of Sciences of the United States of America145 citations Open access
Semantic Scholar
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men
Maram Arafat, I. Har-Vardi, A. Harlev, E. Levitas +7 more
2017Journal of Medical Genetics130 citations
Semantic Scholar
The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane
Deng Guo, Hu-Xing Cui, Qihong Zhang, D. Morgan +5 more
2016PLoS Genetics128 citations Open access
Semantic Scholar
Gene therapy and gene correction: targets, progress, and challenges for treating human diseases
M. R. Cring, V. Sheffield
2020Gene Therapy127 citations
Semantic Scholar
Hyperphagia: Current Concepts and Future Directions Proceedings of the 2nd International Conference on Hyperphagia
S. Heymsfield, N. Avena, L. Baier, Phillip Brantley +25 more
2014Obesity122 citations Open access
Semantic Scholar
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
J. Priest, K. Osoegawa, Nebil Mohammed, Vivek Nanda +24 more
2016PLoS Genetics119 citations Open access
Semantic Scholar
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
E. Héon, Gunhee Kim, Sophie Qin, Janelle E Garrison +6 more
2016Human Molecular Genetics109 citations Open access
Semantic Scholar
Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo
Wei Zhu, O. Gramlich, Lauren A. Laboissonniere, Ankur Jain +4 more
2016Proceedings of the National Academy of Sciences of the United States of America108 citations Open access
Semantic Scholar
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Yan Zhang, Seongjin Seo, Sajag Bhattarai, K. Bugge +5 more
2014Human Molecular Genetics108 citations Open access
Semantic Scholar
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye
Katie Weihbrecht, W. Goar, T. Pak, Janelle E Garrison +4 more
2017Medical Research Archives96 citations
Semantic Scholar
Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension
R. Kasetti, Prabhavathi Maddineni, Pinkal D. Patel, C. Searby +2 more
2018Journal of Biological Chemistry90 citations Open access
Semantic Scholar
Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma
Wei Zhu, Ankur Jain, O. Gramlich, B. Tucker +2 more
2017Investigative Ophthalmology and Visual Science81 citations Open access
Semantic Scholar
ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load
R. Kasetti, Pinkal D. Patel, Prabhavathi Maddineni, Shruti Patil +6 more
2020Nature Communications79 citations Open access
Semantic Scholar
Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins
Rachel D. Starks, Andreas M Beyer, Deng Guo, Lauren A. Boland +3 more
2015PLoS Genetics72 citations Open access
Semantic Scholar
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
Emad Muhammad, A. Levitas, Sonia R. Singh, A. Braiman +6 more
2015Human Molecular Genetics71 citations Open access
Semantic Scholar
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment
Ying Hsu, Janelle E Garrison, Gunhee Kim, A. Schmitz +6 more
2017PLoS Genetics67 citations Open access
Semantic Scholar
Exposure to static magnetic and electric fields treats type 2 diabetes
C. Carter, Sunny C. Huang, C. Searby, Benjamin Cassaidy +28 more
2020Cell Metabolism65 citations Open access
Semantic Scholar
Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eye.
Wen-Nan Lu, Hui-Ling Hu, J. Sévigny, B. Gabelt +8 more
2015Investigative Ophthalmology and Visual Science60 citations Open access
Semantic Scholar
The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors
Deng Guo, Zhihong Lin, Yuanming Wu, C. Searby +6 more
2019Diabetes57 citations Open access
Semantic Scholar
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
Kian-Tee Meng, Michal Abramsohn, N. Loewenthal, M. Harris +8 more
2013Journal of Clinical Endocrinology and Metabolism57 citations Open access
Semantic Scholar
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin
R. Kasetti, Prabhavathi Maddineni, Charles Kiehlbauch, Shruti Patil +4 more
2021JCI Insight46 citations Open access
Semantic Scholar
Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms
Colleen M. McDowell, K. Kizhatil, Michael H. Elliott, Darryl R. Overby +76 more
2022Investigative Ophthalmology and Visual Science45 citations Open access
Semantic Scholar
Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP
Qihong Zhang, Joseph C. Giacalone, C. Searby, E. Stone +2 more
2019Proceedings of the National Academy of Sciences of the United States of America45 citations Open access
Semantic Scholar
The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome
X. Chamling, Seongjin Seo, C. Searby, Gunhee Kim +2 more
2014PLoS Genetics42 citations Open access
Semantic Scholar
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.
Corey L. Williams, C. Uytingco, W. Green, Jeremy C. McIntyre +7 more
2017Molecular Therapy41 citations Open access
Semantic Scholar
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis
O. Reish, Liam Aspit, Arielle Zouella, Y. Roth +7 more
2016Human Mutation37 citations Open access
Semantic Scholar
Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper
Kelly C. Falls-Hubert, Aimee L Butler, Kai Gui, M. Anderson +15 more
2018Free Radical Biology & Medicine36 citations Open access
Semantic Scholar
Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future.
Bharatendu Chandra, Moon Ley Tung, Ying Hsu, T. Scheetz +1 more
2021Progress in retinal and eye research30 citations
Semantic Scholar
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
C. Justice, Araceli Cuellar, K. Bala, Jeremy A. Sabourin +41 more
2020Human Genetics30 citations Open access
Semantic Scholar
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function
Sitvanit Haziza, Roberta Magnani, Dima Lan, O. Keinan +9 more
2015PLoS Genetics29 citations Open access
Semantic Scholar
Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal Neurons
Toneisha Stubbs, A. Koemeter-Cox, James I. Bingman, Fang-Li Zhao +7 more
2022Journal of Neuroscience28 citations Open access
Semantic Scholar
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia
C. Uytingco, Corey L. Williams, Chao Xie, D. T. Shively +6 more
2019Journal of Cell Science27 citations Open access
Semantic Scholar
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
C. A. Scott, Autumn Marsden, M. Rebagliati, Qihong Zhang +5 more
2017PLoS Genetics27 citations Open access
Semantic Scholar
Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
X. Chamling, Seongjin Seo, K. Bugge, C. Searby +4 more
2013PLoS ONE27 citations Open access
Semantic Scholar
The BBSome regulates mitochondria dynamics and function
Deng Guo, R. Merrill, Lan Qian, Ying Hsu +8 more
2022Molecular Metabolism25 citations Open access
Semantic Scholar
Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-Associated X-Linked Retinitis Pigmentosa
Joseph C. Giacalone, Jeaneen L. Andorf, Qihong Zhang, Erin R. Burnight +8 more
2019Human Gene Therapy24 citations Open access
Semantic Scholar
Absence of BBSome function leads to astrocyte reactivity in the brain
Minati Singh, Janelle E Garrison, Kai Wang, V. Sheffield
2019Molecular Brain24 citations Open access
Semantic Scholar
Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model
Khristofor Agassandian, Milan Patel, M. Agassandian, Karina E. Steren +3 more
2014PLoS ONE23 citations Open access
Semantic Scholar
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina
Ying Hsu, Janelle E Garrison, Seongjin Seo, V. Sheffield
2020Scientific Reports20 citations Open access
Semantic Scholar
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome.
Ying Hsu, Seongjin Seo, V. Sheffield
2021Human Molecular Genetics19 citations Open access
Semantic Scholar
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model
Ying Hsu, Sajag Bhattarai, Jacob M. Thompson, Angela Mahoney +9 more
2022Molecular Therapy: Nucleic Acids17 citations Open access
Semantic Scholar
Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics
Maram Arafat, A. Harlev, I. Har-Vardi, E. Levitas +6 more
2020Journal of Medical Genetics17 citations
Semantic Scholar
Osteoarthritis-Like Changes in Bardet–Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation
I. D. Sheffield, M. A. McGee, S. J. Glenn, D. Baek +11 more
2018Frontiers in Physiology17 citations Open access
Semantic Scholar
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms
X. Mei, Trudi A. Westfall, Qihong Zhang, V. Sheffield +2 more
2014Developmental Biology16 citations Open access
Semantic Scholar
Exome-based investigation of the genetic basis of human pigmentary glaucoma
Carly J. van der Heide, W. Goar, K. J. Meyer, W. L. Alward +18 more
2021BMC Genomics13 citations Open access
Semantic Scholar
Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes.
C. Carter, Sunny C. Huang, C. Searby, Benjamin Cassaidy +28 more
2020Cell Metabolism13 citations Open access
Semantic Scholar

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