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VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. Héon E, et al. Among authors: billingsley g. Hum Mol Genet. 2002 May 1;11(9):1029-36. doi: 10.1093/hmg/11.9.1029. Hum Mol Genet. 2002. PMID: 11978762
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: billingsley g. Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3122-30. doi: 10.1167/iovs.04-0107. Invest Ophthalmol Vis Sci. 2004. PMID: 15326130
CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Héon E. Billingsley G, et al. Am J Hum Genet. 2006 Oct;79(4):702-9. doi: 10.1086/507712. Epub 2006 Aug 17. Am J Hum Genet. 2006. PMID: 16960806 Free PMC article.
BBS mutational analysis: a strategic approach.
Billingsley G, Deveault C, Héon E. Billingsley G, et al. Ophthalmic Genet. 2011 Sep;32(3):181-7. doi: 10.3109/13816810.2011.567319. Epub 2011 Apr 4. Ophthalmic Genet. 2011. PMID: 21463199
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium; Héon E. Vincent A, et al. Among authors: billingsley g. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. J Med Genet. 2014. PMID: 25293953
93 results