Val C Sheffield

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 9

Top Topics

Congenital Heart Disease

Top Venues

Proceedings of the National Academy of Sciences of the United States of America

Scientific reports

This page only lists publications with an associated author ORCID identifier.

Publications

Sara K Mayer, Jacintha Thomas, Megan Helms, Aishwarya Kothapalli, Ioana Cherascu, Adisa Salesevic, Elliot Stalter, Kai Wang, Poppy Datta, Charles C Searby, Seongjin Seo, Ying Hsu, Sajag Bhattarai, Val C Sheffield, Arlene V Drack
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model. Disease models & mechanisms 15 (9) (2022)
Thomas Kun Pak, Calvin S Carter, Qihong Zhang, Sunny C Huang, Charles C Searby, Ying Hsu, Rebecca J Taugher-Hebl, Tim Vogel, Christopher C Cychosz, Rachel Genova, Nina N Moreira, Hanna Elizabeth Stevens, John A Wemmie, Andrew A Pieper, Kai Wang, Val C Sheffield
A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment. PLoS genetics 17 (4) (2021)
Matthew R Cring, Kacie J Meyer, Charles C Searby, Adam Hedberg-Buenz, Michael Cave, Michael G Anderson, Kai Wang, Val C Sheffield
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model. Gene therapy (2021)
Matthew R Cring, Val C Sheffield
Gene therapy and gene correction: targets, progress, and challenges for treating human diseases. Gene therapy (2020)
Ramesh B Kasetti, Pinkal D Patel, Prabhavathi Maddineni, Shruti V Patil, Charles Kiehlbauch, J Cameron Millar, Charles C Searby, Vijay Krishna Raghunathan, Val C Sheffield, Gulab S Zode
ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load. Nature communications 11 (1) (2020)
Ying Hsu, Janelle E Garrison, Seongjin Seo, Val C Sheffield
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina. Scientific reports 10 (1) (2020)
Qihong Zhang, Joseph C Giacalone, Charles Searby, Edwin M Stone, Budd A Tucker, Val C Sheffield
Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP. Proceedings of the National Academy of Sciences of the United States of America 116 (4) (2019)
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. PLoS genetics 13 (10) (2017)
Charles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C Searby, Lisa M Baye, Val C Sheffield, Diane C Slusarski
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS genetics 13 (7) (2017)