| Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ... Cell 140 (1), 74-87, 2010 | 621 | 2010 |
| Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis JC Jen, WM Chan, TM Bosley, J Wan, JR Carr, U Rüb, D Shattuck, ... Science 304 (5676), 1509-1513, 2004 | 429 | 2004 |
| Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 E Ferda Percin, LA Ploder, JJ Yu, K Arici, D Jonathan Horsford, ... Nature genetics 25 (4), 397-401, 2000 | 328 | 2000 |
| Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome EI Traboulsi, AJ Krush, EJ Gardner, SV Booker, GJA Offerhaus, ... New England Journal of Medicine 316 (11), 661-667, 1987 | 302 | 1987 |
| Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) K Yamada, C Andrews, WM Chan, CA McKeown, A Magli, ... Nature genetics 35 (4), 318-321, 2003 | 296 | 2003 |
| Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 A Li, X Jiao, FL Munier, DF Schorderet, W Yao, F Iwata, M Hayakawa, ... The American Journal of Human Genetics 74 (5), 817-826, 2004 | 281 | 2004 |
| Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success SG Jacobson, TS Aleman, AV Cideciyan, A Sumaroka, SB Schwartz, ... Proceedings of the National Academy of Sciences 102 (17), 6177-6182, 2005 | 278 | 2005 |
| Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ... Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004 | 261 | 2004 |
| Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration LY Marmorstein, FL Munier, Y Arsenijevic, DF Schorderet, PJ McLaughlin, ... Proceedings of the National Academy of Sciences 99 (20), 13067-13072, 2002 | 237 | 2002 |
| A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region OC Trifan, EI Traboulsi, D Stoilova, I Alozie, R Nguyen, S Raja, ... American journal of ophthalmology 126 (1), 17-28, 1998 | 235 | 1998 |
| The infant aphakia treatment study: design and clinical measures at enrollment Infant Aphakia Treatment Study Group Archives of ophthalmology 128 (1), 21-27, 2010 | 209 | 2010 |
| Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein OH Sundin, GS Leppert, ED Silva, JM Yang, S Dharmaraj, IH Maumenee, ... Proceedings of the National Academy of Sciences 102 (27), 9553-9558, 2005 | 209 | 2005 |
| Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration RK Koenekoop, H Wang, J Majewski, X Wang, I Lopez, H Ren, Y Chen, ... Nature genetics 44 (9), 1035-1039, 2012 | 208 | 2012 |
| Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing EM Stone, AJ Aldave, AV Drack, MW MacCumber, VC Sheffield, ... Ophthalmology 119 (11), 2408-2410, 2012 | 206 | 2012 |
| X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 FYK Demirci, BW Rigatti, G Wen, AL Radak, TS Mah, CL Baic, ... The American Journal of Human Genetics 70 (4), 1049-1053, 2002 | 185 | 2002 |
| Immunohistochemical localization of fibrillin in human ocular tissues: relevance to the Marfan syndrome HM Wheatley, EI Traboulsi, BE Flowers, IH Maumenee, D Azar, ... Archives of ophthalmology 113 (1), 103-109, 1995 | 180 | 1995 |
| Evaluation of choroidal thickness in retinitis pigmentosa using enhanced depth imaging optical coherence tomography DS Dhoot, S Huo, A Yuan, D Xu, S Srivistava, JP Ehlers, E Traboulsi, ... British Journal of Ophthalmology 97 (1), 66-69, 2013 | 179 | 2013 |
| Genetic heterogeneity among blue-cone monochromats J Nathans, IH Maumenee, E Zrenner, B Sadowski, LT Sharpe, RA Lewis, ... American journal of human genetics 53 (5), 987, 1993 | 178 | 1993 |
| SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies SA Hagstrom, GJT Pauer, J Reid, E Simpson, S Crowe, IH Maumenee, ... American journal of medical genetics Part A 138 (2), 95-98, 2005 | 163 | 2005 |
| 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 | 159 | 2013 |
