| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ... Nature genetics 38 (6), 674-681, 2006 | 730 | 2006 |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ... Nature genetics 37 (3), 282-288, 2005 | 452 | 2005 |
| 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 B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ... Human molecular genetics 15 (11), 1847-1857, 2006 | 417 | 2006 |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840-850, 2010 | 388 | 2010 |
| Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa WA Beltran, AV Cideciyan, AS Lewin, S Iwabe, H Khanna, A Sumaroka, ... Proceedings of the National Academy of Sciences 109 (6), 2132-2137, 2012 | 319 | 2012 |
| A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies H Khanna, EE Davis, CA Murga-Zamalloa, A Estrada-Cuzcano, I Lopez, ... Nature genetics 41 (6), 739-745, 2009 | 309 | 2009 |
| CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease WY Tsang, C Bossard, H Khanna, J Peränen, A Swaroop, V Malhotra, ... Developmental cell 15 (2), 187-197, 2008 | 306 | 2008 |
| Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors H Cheng, H Khanna, ECT Oh, D Hicks, KP Mitton, A Swaroop Human molecular genetics 13 (15), 1563-1575, 2004 | 292 | 2004 |
| RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins H Khanna, TW Hurd, C Lillo, X Shu, SK Parapuram, S He, M Akimoto, ... Journal of Biological Chemistry 280 (39), 33580-33587, 2005 | 197 | 2005 |
| Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL ECT Oh, N Khan, E Novelli, H Khanna, E Strettoi, A Swaroop Proceedings of the National Academy of Sciences 104 (5), 1679-1684, 2007 | 188 | 2007 |
| Centrosomal‐ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of … AV Cideciyan, TS Aleman, SG Jacobson, H Khanna, A Sumaroka, ... Human mutation 28 (11), 1074-1083, 2007 | 174 | 2007 |
| Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons DP McEwen, RK Koenekoop, H Khanna, PM Jenkins, I Lopez, A Swaroop, ... Proceedings of the National Academy of Sciences 104 (40), 15917-15922, 2007 | 172 | 2007 |
| Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ... The Journal of clinical investigation 120 (3), 791-802, 2010 | 155 | 2010 |
| RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin X Shu, AM Fry, B Tulloch, FDC Manson, JW Crabb, H Khanna, ... Human Molecular Genetics 14 (9), 1183-1197, 2005 | 132 | 2005 |
| OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome N Luo, CC West, CA Murga-Zamalloa, L Sun, RM Anderson, CD Wells, ... Human molecular genetics 21 (15), 3333-3344, 2012 | 121 | 2012 |
| Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration CA Murga-Zamalloa, SJ Atkins, J Peranen, A Swaroop, H Khanna Human molecular genetics 19 (18), 3591-3598, 2010 | 118 | 2010 |
| Advances in gene therapy for diseases of the eye L Petit, H Khanna, C Punzo Human gene therapy 27 (8), 563-579, 2016 | 103 | 2016 |
| Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy CF Chakarova, MG Papaioannou, H Khanna, I Lopez, N Waseem, A Shah, ... The American Journal of Human Genetics 81 (5), 1098-1103, 2007 | 99 | 2007 |
| A Dominant Negative Mutant of Bacillus anthracisProtective Antigen Inhibits Anthrax Toxin Action in Vivo Y Singh, H Khanna, AP Chopra, V Mehra Journal of Biological Chemistry 276 (25), 22090-22094, 2001 | 96 | 2001 |
| Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis RA Rachel, HL May-Simera, S Veleri, N Gotoh, BY Choi, ... The Journal of clinical investigation 122 (4), 1233-1245, 2012 | 94 | 2012 |
