A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States
Sullivan, Lori S, Bowne, Sara J, Koboldt, Daniel C, Cadena, Elizabeth L, Heckenlively, John R, Branham, Kari E, Wheaton, Dianna H, Jones, Kaylie D, Ruiz, Richard S, Pennesi, Mark E, Yang, Paul, Davis-Boozer, David, Northrup, Hope, Gurevich, Vsevold V, Chen, Rui, Xu, Mingchu, Li, Yumei, Birch, David G, Daiger, Stephen P
Published in Investigative ophthalmology & visual science (01.05.2017)
Published in Investigative ophthalmology & visual science (01.05.2017)
Get full text
Journal Article
History of Finding Genes and Mutations Causing Inherited Retinal Diseases
Daiger, Stephen P, Sullivan, Lori S, Cadena, Elizabeth L, Bowne, Sara J
Published in Cold Spring Harbor perspectives in medicine (03.09.2024)
Published in Cold Spring Harbor perspectives in medicine (03.09.2024)
Get full text
Journal Article
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Buckley, Reuben M., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivas P., Munday, John S., Murphy, William J., Pedersen, Niels C., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H., Yu, Yoshihiko, Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand
Published in American journal of human genetics (04.06.2020)
Published in American journal of human genetics (04.06.2020)
Get full text
Journal Article