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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Robitaille JM, et al. Among authors: traboulsi ei. JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. JAMA Ophthalmol. 2014. PMID: 25124931
Molecular genetics for the pediatric ophthalmologist.
Bollinger K, Traboulsi EI. Bollinger K, et al. Among authors: traboulsi ei. J Pediatr Ophthalmol Strabismus. 2007 Jul-Aug;44(4):209-15; quiz 241-2. doi: 10.3928/01913913-20070701-01. J Pediatr Ophthalmol Strabismus. 2007. PMID: 17694825 Review.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium; Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Koenekoop RK, et al. Among authors: traboulsi ei. Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842230 Free PMC article.
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.
Drack AV, Miraldi Utz V, Wang K, Alcorn DM, Brooks BP, Costakos DM, Couser NL, Heon E, Levin AV, Lloyd IC, Morse CL, Schmitt MA, Whitman MC, Traboulsi EI. Drack AV, et al. Among authors: traboulsi ei. J AAPOS. 2019 Aug;23(4):226-228.e1. doi: 10.1016/j.jaapos.2019.04.005. Epub 2019 Jun 21. J AAPOS. 2019. PMID: 31233830
348 results