Publications
- Gascue C, Tan P, Cardenas-Rodriguez M, Libisch G, Fernandez-Calero T, Liu YP, Astrada S, Robello C, Naya H, Katsanis N, Badano JL (2011) A direct role of Bardet-Biedl Syndrome proteins in transcriptional regulation. J Cell Sci, in press
- Irigoin F, Badano JL (2011) Keeping the balance between proliferation and differentiation: The primary cilium. Curr Genomics 12: 285-297
- Gascue C, Katsanis N, Badano JL (2010) Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatr Nephrol 26: 1181-1195
- Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Leitch CC, Binkley J, Bromberg Y, Leibel RL, Karchin R, Sidow A, Badano JL, Katsanis N (2010) In vivo evaluation of mutational load informs the architecture of oligogenic disease. Proc Natl Acad Sci USA 107: 10602-10607
- Cardenas-Rodriguez M, Badano JL (2009) Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet Part C Semin Med Genet 151C: 263-280
- de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J (2009) Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci USA 106:13921-13926
- Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 40:443-448
- Gerdes JM, Liu Y, Zaghloul NA, Leitch CC, Lawson SS, Kato M, Beachy PA, Beales PL, Demartino GN, Fisher S, Badano JL, Katsanis N (2007) Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet 39:1350-1360