Sophie Saunier

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 489 citations

Cerebello-oculo-renal Syndrome, Ciliary Gene Rpgrip1l, Developmental Biology +9

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 · 390 citations · Full text

Genome Instability, Linking Renal Ciliopathies, Cep164 Mutations +6

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

Ocular Disease, Retina, Ophthalmology +6

The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

Anahi Molla‐Herman, Rania Ghossoub, Thierry Blisnick et al. · Journal of Cell Science · 2010 · 299 citations

Motile Cilia, Flagellar Pocket, Primary Cilium +18

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8