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

Transcription Factor Atf4, Transcriptional Regulation, Developmental Biology +10

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 · 401 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +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 · 379 citations · Full text

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

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 · 267 citations · Full text

Ocular Disease, Common Allele, Retina +7