PMC Links for Gene (Select 301579) - PMC

Select item 55017741.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty

Am J Hum Genet. 2017 Jul 6; 101(1): 23–36. Published online 2017 Jun 15. doi: 10.1016/j.ajhg.2017.05.010

PMCID:: PMC5501774

Abstract Article PDF–1.9M

Select item 58627712.

A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies

David K. Breslow, Sascha Hoogendoorn, Adam R. Kopp, David W. Morgens, Brandon K. Vu, Margaret C. Kennedy, Kyuho Han, Amy Li, Gaelen T. Hess, Michael C. Bassik, James K. Chen, Maxence V. Nachury

Nat Genet. Author manuscript; available in PMC 2018 Aug 19.

Published in final edited form as: Nat Genet. 2018 Mar; 50(3): 460–471. Published online 2018 Feb 19. doi: 10.1038/s41588-018-0054-7