Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik, Moumita Chaki, Weibin Zhou, Corinne Stoetzel, Suresh B. Patil, Shawn Levy, Amiya K. Ghosh, Carlos A. Murga-Zamalloa, Jeroen Van Reeuwijk, Stef J F Letteboer, Liyun Sang, Rachel H. Giles, Qin Liu, Karlien L M Coene, Alejandro Estrada-Cuzcano, Rob W J Collin, Heather M. McLaughlin, Susanne HeldJennifer M. Kasanuki, Gokul Ramaswami, Jinny Conte, Irma Lopez, Joseph Washburn, James MacDonald, Jinghua Hu, Yukiko Yamashita, Eamonn R. Maher, Lisa M. Guay-Woodford, Hartmut P H Neumann, Nicholas Obermüller, Robert K. Koenekoop, Carsten Bergmann, Xiaoshu Bei, Richard A. Lewis, Nicholas Katsanis, Vanda Lopes, David S. Williams, Robert H. Lyons, Chi V. Dang, Daniela A. Brito, M'nica Bettencourt Dias, Xinmin Zhang, James D. Cavalcoli, Gudrun Nürnberg, Peter Nürnberg, Eric A. Pierce, Peter K. Jackson, Corinne Antignac, Sophie Saunier, Ronald Roepman, Helene Dollfus, Hemant Khanna, Friedhelm Hildebrandt

Neuroscience

Research output: Contribution to journal › Article › peer-review

269 Scopus citations

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

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Medicine & Life Sciences