Riva, A., Gambadauro, A., Dipasquale, V., Casto, C., Ceravolo, M.D., Accogli, A., Scala, M., Ceravolo, G., Iacomino, M., Zara, F., Striano, P., Cuppari, C., Di Rosa, G., Cutrupi, M.C., Salpietro, V., Chimenz, R. (2021) Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum. International Journal of Molecular Sciences. 22(9):
|
Merrigan, S.L., Park, B., Ali, Z., Jensen, L.D., Corson, T.W., Kennedy, B.N. (2020) Calcitriol and non-calcemic vitamin D analogue, 22-oxacalcitriol, attenuate developmental and pathological choroidal vasculature angiogenesis ex vivo and in vivo. Oncotarget. 11:493-509
|
|
|
Unlu, G., Gamazon, E.R., Qi, X., Levic, D.S., Bastarache, L., Denny, J.C., Roden, D.M., Mayzus, I., Breyer, M., Zhong, X., Konkashbaev, A.I., Rzhetsky, A., Knapik, E.W., Cox, N.J. (2019) GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. American journal of human genetics. 104(3):503-519
|
Xiao, X., Sun, W., Ouyang, J., Li, S., Jia, X., Tan, Z., Hejtmancik, J.F., Zhang, Q. (2019) Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3. Human genetics. 138(10):1077-1090
|
Liu, Y.P., Bosch, D.G., Siemiatkowska, A.M., Rendtorff, N.D., Boonstra, F.N., Möller, C., Tranebjærg, L., Katsanis, N., Cremers, F.P. (2017) Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. Ophthalmic genetics. 38(2):127-132
|
Chassaing, N., Davis, E.E., McKnight, K.L., Niederriter, A.R., Causse, A., David, V., Desmaison, A., Lamarre, S., Vincent-Delorme, C., Pasquier, L., Coubes, C., Lacombe, D., Rossi, M., Dufier, J.L., Dollfus, H., Kaplan, J., Katsanis, N., Etchevers, H.C., Faguer, S., Calvas, P. (2016) Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome research. 26(4):474-85
|
Sulaiman, R.S., Merrigan, S., Quigley, J., Qi, X., Lee, B., Boulton, M.E., Kennedy, B., Seo, S.Y., Corson, T.W. (2016) A novel small molecule ameliorates ocular neovascularisation and synergises with anti-VEGF therapy. Scientific Reports. 6:25509
|
