Stef J.F. Letteboer

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh et al. · Cell · 2012 · 391 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H. Arts, Dan Doherty, Sylvia E. C. van Beersum et al. · Nature Genetics · 2007 · 321 citations

Life Sciences, Genetics, Molecular Genetics +8

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

Edgar A. Otto, Toby W. Hurd, Rannar Airik et al. · Nature Genetics · 2010 · 318 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +8

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Aarti Tarkar, Niki T. Loges, Christopher E. Slagle et al. · Nature Genetics · 2013 · 291 citations

Life Sciences, Cell Biology, Molecular Genetics +7

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu et al. · Nature Communications · 2016 · 259 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16