Publications

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Author Title [ Year(Desc)]
Filters: Author is Taylor, S Paige and Keyword is Mutation  [Clear All Filters]
2015
S Taylor, P. et al. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun 6, 7092 (2015).
2016
Toriyama, M. et al. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 48, 648-56 (2016).
Zhang, W. et al. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet 25, 4012-4020 (2016).
2018
Zhang, W. et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).