| Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years SG Jacobson, AV Cideciyan, R Ratnakaram, E Heon, SB Schwartz, ... Archives of ophthalmology 130 (1), 9-24, 2012 | 576 | 2012 |
| Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 K Mykytyn, T Braun, R Carmi, NB Haider, CC Searby, M Shastri, G Beck, ... Nature genetics 28 (2), 188-191, 2001 | 284 | 2001 |
| Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2) DY Nishimura, CC Searby, R Carmi, K Elbedour, L Van Maldergem, ... Human Molecular Genetics 10 (8), 865-874, 2001 | 273 | 2001 |
| A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa DK Breuer, BM Yashar, E Filippova, S Hiriyanna, RH Lyons, AJ Mears, ... The American Journal of Human Genetics 70 (6), 1545-1554, 2002 | 224 | 2002 |
| Pigment epithelium-derived factor supports normal development of photoreceptor neurons and opsin expression after retinal pigment epithelium removal MM Jablonski, J Tombran-Tink, DA Mrazek, A Iannaccone Journal of Neuroscience 20 (19), 7149-7157, 2000 | 207 | 2000 |
| Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane's retraction syndrome N Miyake, J Chilton, M Psatha, L Cheng, C Andrews, WM Chan, K Law, ... Science 321 (5890), 839-843, 2008 | 135 | 2008 |
| Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa SG Jacobson, AV Cideciyan, A Iannaccone, RG Weleber, GA Fishman, ... Investigative ophthalmology & visual science 41 (7), 1898-1908, 2000 | 130 | 2000 |
| Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1) K Mykytyn, DY Nishimura, CC Searby, G Beck, K Bugge, HL Haines, ... The American Journal of Human Genetics 72 (2), 429-437, 2003 | 125 | 2003 |
| Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing X Wang, H Wang, V Sun, HF Tuan, V Keser, K Wang, H Ren, I Lopez, ... Journal of medical genetics 50 (10), 674-688, 2013 | 117 | 2013 |
| Macular pigment optical density is related to cognitive function in older people R Vishwanathan, A Iannaccone, TM Scott, SB Kritchevsky, BJ Jennings, ... Age and ageing 43 (2), 271-275, 2014 | 114 | 2014 |
| Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation A Iannaccone, DK Breuer, XF Wang, SF Kuo, EM Normando, E Filippova, ... Journal of medical genetics 40 (11), e118-e118, 2003 | 113 | 2003 |
| Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease K Branham, M Othman, M Brumm, AJ Karoukis, P Atmaca-Sonmez, ... Investigative ophthalmology & visual science 53 (13), 8232-8237, 2012 | 97 | 2012 |
| Pigment epithelium‐derived factor supports normal Müller cell development and glutamine synthetase expression after removal of the retinal pigment epithelium MM Jablonski, J Tombran‐Tink, DA Mrazek, A Iannaccone Glia 35 (1), 14-25, 2001 | 90 | 2001 |
| Correlates of serum lutein+ zeaxanthin: findings from the Third National Health and Nutrition Examination Survey M Gruber, R Chappell, A Millen, T LaRowe, SM Moeller, A Iannaccone, ... The Journal of nutrition 134 (9), 2387-2394, 2004 | 80 | 2004 |
| Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration GR Jackson, IU Scott, IK Kim, DA Quillen, A Iannaccone, JG Edwards Investigative ophthalmology & visual science 55 (3), 1427-1431, 2014 | 77 | 2014 |
| Kinetics of visual field loss in Usher syndrome Type II A Iannaccone, SB Kritchevsky, ML Ciccarelli, SA Tedesco, C Macaluso, ... Investigative ophthalmology & visual science 45 (3), 784-792, 2004 | 70 | 2004 |
| Macular pigment optical density in the elderly: findings in a large biracial Midsouth population sample A Iannaccone, M Mura, KT Gallaher, EJ Johnson, WA Todd, E Kenyon, ... Investigative ophthalmology & visual science 48 (4), 1458-1465, 2007 | 68 | 2007 |
| Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications A Iannaccone, NC Kerr, TR Kinnick, JI Calzada, EM Stone Archives of ophthalmology 129 (2), 211-217, 2011 | 67 | 2011 |
| Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene A Iannaccone, K Mykytyn, AM Persico, CC Searby, A Baldi, MM Jablonski, ... American Journal of Medical Genetics Part A 132 (4), 343-346, 2005 | 67 | 2005 |
| Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium DA Thompson, RR Ali, E Banin, KE Branham, JG Flannery, DM Gamm, ... Investigative ophthalmology & visual science 56 (2), 918-931, 2015 | 65 | 2015 |
