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Mutations in the CRB1 gene cause Leber congenital amaurosis.
Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: heon e. Arch Ophthalmol. 2001 Mar;119(3):415-20. doi: 10.1001/archopht.119.3.415. Arch Ophthalmol. 2001. PMID: 11231775
An analysis of allelic variation in the ABCA4 gene.
Webster AR, Héon E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM. Webster AR, et al. Among authors: heon e. Invest Ophthalmol Vis Sci. 2001 May;42(6):1179-89. Invest Ophthalmol Vis Sci. 2001. PMID: 11328725
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
Willoughby CE, Chan LL, Herd S, Billingsley G, Noordeh N, Levin AV, Buys Y, Trope G, Sarfarazi M, Héon E. Willoughby CE, et al. Among authors: heon e. Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3122-30. doi: 10.1167/iovs.04-0107. Invest Ophthalmol Vis Sci. 2004. PMID: 15326130
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Jacobson SG, et al. Among authors: heon e. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6177-82. doi: 10.1073/pnas.0500646102. Epub 2005 Apr 18. Proc Natl Acad Sci U S A. 2005. PMID: 15837919 Free PMC article.
Human cone photoreceptor dependence on RPE65 isomerase.
Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Jacobson SG, et al. Among authors: heon e. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15123-8. doi: 10.1073/pnas.0706367104. Epub 2007 Sep 11. Proc Natl Acad Sci U S A. 2007. PMID: 17848510 Free PMC article.
249 results