Elias Traboulsi
Elias Traboulsi
Cole Eye Institute, Cleveland Clinic
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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
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
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
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
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
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
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
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
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
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
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
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
The infant aphakia treatment study: design and clinical measures at enrollment
Infant Aphakia Treatment Study Group
Archives of ophthalmology 128 (1), 21-27, 2010
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
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
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
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
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
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
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
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