John F. O’Toole

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 642 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit et al. · Cell · 2011 · 621 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +9

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

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 564 citations

Medicine, Genetics, Molecular Genetics +14

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Edgar A. Otto, Bart Loeys, Hemant Khanna et al. · Nature Genetics · 2005 · 404 citations

Life Sciences, Genetics, Molecular Genetics +6