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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. JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. JAMA Ophthalmol. 2014. PMID: 25124931
Severe retinopathy of prematurity associated with FZD4 mutations.
Ells A, Guernsey DL, Wallace K, Zheng B, Vincer M, Allen A, Ingram A, DaSilva O, Siebert L, Sheidow T, Beis J, Robitaille JM. Ells A, et al. Among authors: robitaille jm. Ophthalmic Genet. 2010 Mar;31(1):37-43. doi: 10.3109/13816810903479834. Ophthalmic Genet. 2010. PMID: 20141357
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
Robitaille JM, Zheng B, Wallace K, Beis MJ, Tatlidil C, Yang J, Sheidow TG, Siebert L, Levin AV, Lam WC, Arthur BW, Lyons CJ, Jaakkola E, Tsilou E, Williams CA, Weaver RG Jr, Shields CL, Guernsey DL. Robitaille JM, et al. Br J Ophthalmol. 2011 Apr;95(4):574-9. doi: 10.1136/bjo.2010.190116. Epub 2010 Nov 21. Br J Ophthalmol. 2011. PMID: 21097938
Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9.
Prykhozhij SV, Fuller C, Steele SL, Veinotte CJ, Razaghi B, Robitaille JM, McMaster CR, Shlien A, Malkin D, Berman JN. Prykhozhij SV, et al. Among authors: robitaille jm. Nucleic Acids Res. 2018 Sep 28;46(17):e102. doi: 10.1093/nar/gky512. Nucleic Acids Res. 2018. PMID: 29905858 Free PMC article.
Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9.
Prykhozhij SV, Fuller C, Steele SL, Veinotte CJ, Razaghi B, Robitaille JM, McMaster CR, Shlien A, Malkin D, Berman JN. Prykhozhij SV, et al. Among authors: robitaille jm. Nucleic Acids Res. 2018 Sep 28;46(17):9252. doi: 10.1093/nar/gky674. Nucleic Acids Res. 2018. PMID: 30053067 Free PMC article. No abstract available.
27 results