Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish
- Creator: Van De Weghe, Julie C. , Rusterholz, Tamara D. S. , Gesemann, Matthias , Goel, Himanshu , Birk, Ohad S. , Alanzi, Talal , Rawashdeh, Rifaat , Khan, Arif O. , University of Washington Center for Mendelian Genomics, , Bamshad, Michael J. , Nickerson, Deborah A. , Neuhauss, Stephen C. F. , Latour, Brooke , Grout, Megan E. , Aldinger, Kimberly A. , Shaheen, Ranad , Dempsey, Jennifer C. , Maddirevula, Sateesh , Cheng, Yong-Han H. , Phelps, Ian G.
- Resource Type: journal article
- Date: 2017
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
- Creator: Oegema, Renske , Cushion, Thomas D. , Dobyns, William B. , Ishak, Gisele E. , Rees, Mark I. , Doherty, Dan , Phelps, Ian G. , Chung, Seo-Kyung , Dempsey, Jennifer C. , Collins, Sarah , Mullins, Jonathan G. L. , Dudding, Tracy , Gill, Harinder , Green, Andrew J.
- Resource Type: journal article
- Date: 2015