Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
Pleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, Hayley S Mountford, Emma A Hall, Martin AM Reijns, Margaret Keighren, Melanie Bahlo, Catherine J Bromhead, Peter Budd, Salim Aftimos, Martin B Delatycki, Ravi Savarirayan, Ian J Jackson, David J Amor
American Journal of Human Genetics | CELL PRESS | Published : 2011
Awarded by National Health and Medical Research Council Australia
Awarded by Medical Research Council
We thank K. Pope (Clinical Research Coordinator, MCRI) and the families involved in this research. We thank I. Algianis, E. Maher, and C. Patel for sharing clinical samples for WDR35 screening. We are grateful to P. Perry and M. Pearson for imaging assistance. We thank D. FitzPatrick, A. Jackson, and T. Kunath for critical comments on the manuscript. This work was funded by the Medical Research Council (UK) and the National Health and Medical Research Council Australia (program grant 490037). Support to P.M. was provided by fellowships from the National Sciences and Engineering Research Council of Canada and the Caledonian Research Foundation. P.J.L. was supported by a National Health and Medical Research Council Australia RD Wright Fellowship (334346).