Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

Por Ashe, Alyson, Butterfield, Natalie C., Town, Liam, Courtney, Andrew D., Cooper, Ashley N., Ferguson, Charles, Barry, Rachael, Olsson, Fredrik, Liem, Karel F., Parton, Robert G., Wainwright, Brandon J., Anderson, Kathryn V., Whitelaw, Emma, Wicking, Carol
Publicado em 2012

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

Por McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol
Publicado em 2013

Mutations in DZIP1L, which encodes a ciliary transition zone protein, cause autosomal recessive polycystic kidney disease

Por Lu, Hao, Galeano, Maria C. Rondón, Ott, Elisabeth, Kaeslin, Geraldine, Kausalya, P. Jaya, Kramer, Carina, Ortiz-Brüchle, Nadina, Hilger, Nadescha, Metzis, Vicki, Hiersche, Milan, Tay, Shang Yew, Tunningley, Robert, Vij, Shubha, Courtney, Andrew D., Whittle, Belinda, Wühl, Elke, Vester, Udo, Hartleben, Björn, Neuber, Steffen, Frank, Valeska, Little, Melissa H., Epting, Daniel, Papathanasiou, Peter, Perkins, Andrew C., Wright, Graham D., Hunziker, Walter, Gee, Heon Yung, Otto, Edgar A., Zerres, Klaus, Hildebrandt, Friedhelm, Roy, Sudipto, Wicking, Carol, Bergmann, Carsten
Publicado no Nat Genet (2017)