Litcius/Paper detail

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

Benjamin Cogné, Xénia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C. Koboldt, Georgios Kellaris, Lorraine Fievet, Guylène Le Meur, D. Caldari, Dominique Debray, Mathilde Nizon, Eirik Frengen, Sara J. Bowne, Reuben M. Buckley, Danielle Aberdein, Paulo C. Alves, Gregory S. Barsh, Rebecca R. Bellone, Tomas F. Bergström, Adam R. Boyko, Jeffrey A. Brockman, Margret L. Casal, Marta G. Castelhano, O. Distl, Nicholas H. Dodman, N. Matthew Ellinwood, Jonathan E. Fogle, Oliver P. Forman, Dorian J. Garrick, Edward I. Ginns, Jens Häggström, Robert J. Harvey, Daisuke Hasegawa, Bianca Haase, Chris R. Helps, Isabel Hernández, Marjo K. Hytönen, Maria Kaukonen, Christopher B. Kaelin, Tomoki Kosho, Emilie Leclerc, T.L. Lear, Tosso Leeb, Ronald H. L. Li, Hannes Lohi, M. Longeri, Mark A. Magnuson, Richard Malík, Shrinivasrao P. Mane, John S. Munday, William J. Murphy, Niels C. Pedersen, Max F. Rothschild, Clare Rusbridge, Beth Shapiro, Joshua A. Stern, William F. Swanson, Karen A. Terio, Rory J. Todhunter, Wesley C. Warren, Elizabeth A. Wilcox, Julia H Wildschutte, Yoshihiko Yu, Elizabeth L. Cadena, Stephen P. Daiger, Kinga M. Bujakowska, Eric A. Pierce, Michael B. Gorin, Nicholas Katsanis, Stéphane Bezieau, Simon M. Petersen‐Jones, Laurence M. Occelli, Leslie A. Lyons, Laurence Legeai‐Mallet, Lori S. Sullivan, Erica E. Davis, Bertrand Isidor

2020The American Journal of Human Genetics55 citationsDOIOpen Access PDF

Topics & Concepts

CiliopathyBiologyCiliumGeneticsIntraflagellar transportRetinitis pigmentosaCell biologyPhenotypeMutantGeneGenetic and Kidney Cyst DiseasesFetal and Pediatric Neurological DisordersMicrotubule and mitosis dynamics