Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

A generic protein purification method for protein complex characterization and proteome exploration

Guillaume Rigaut, Anna Shevchenko, Berthold Rutz et al. · Nature Biotechnology · 1999 · 2.7K citations

Life Sciences, Biochemistry, Molecular Biology +16

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer et al. · The American Journal of Human Genetics · 2006 · 676 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

Life Sciences, Genetics, Molecular Biology +6

A Proteomic Analysis of Human Cilia

Lawrence E. Ostrowski, Kevin Blackburn, Kristen M. Radde et al. · Molecular & Cellular Proteomics · 2002 · 445 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 402 citations

Life Sciences, Genetics, Molecular Genetics +9