|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Elovl4 5-bp–deletion knock-in mice develop progressive photoreceptor degeneration|
V Vasireddy, MM Jablonski, MNA Mandal, D Raz-Prag, XF Wang, L Nizol, ...
Investigative ophthalmology & visual science 47 (10), 4558-4568, 2006