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Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish

- 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.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

- 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.

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