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.

ALG1-CDG: clinical and molecular characterization of 39 unreported patients

- Ng, Bobby G., Shiryaev, Sergey A., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Rymen, Daisy, Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, Eklund, Erik A., James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Raymond, Kimiyo, Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarillis, Vilain, Eric, Kircher, Martin, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H., University of Washington Center for Mendelian Genomics, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J.