Hemant Khanna

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

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

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Bo Chang, Hemant Khanna, Norman L. Hawes et al. · Human Molecular Genetics · 2006 · 381 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

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

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa et al. · Nature Genetics · 2009 · 268 citations

Medicine, Genetics, Ophthalmology +14