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Page 1
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.
Maile H, Li JO, Gore D, Leucci M, Mulholland P, Hau S, Szabo A, Moghul I, Balaskas K, Fujinami K, Hysi P, Davidson A, Liskova P, Hardcastle A, Tuft S, Pontikos N. Maile H, et al. Among authors: fujinami k. JMIR Med Inform. 2021 Dec 13;9(12):e27363. doi: 10.2196/27363. JMIR Med Inform. 2021. PMID: 34898463 Free PMC article. Review.
The clinical effect of homozygous ABCA4 alleles in 18 patients.
Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Fujinami K, et al. Ophthalmology. 2013 Nov;120(11):2324-31. doi: 10.1016/j.ophtha.2013.04.016. Epub 2013 Jun 12. Ophthalmology. 2013. PMID: 23769331
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: fujinami k. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. Hum Mutat. 2018. PMID: 28967191
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.
Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO. Fujinami-Yokokawa Y, et al. Among authors: fujinami k. J Ophthalmol. 2019 Apr 9;2019:1691064. doi: 10.1155/2019/1691064. eCollection 2019. J Ophthalmol. 2019. PMID: 31093368 Free PMC article.
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Kameya S, et al. Among authors: fujinami yokokawa y, fujinami k. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650. Invest Ophthalmol Vis Sci. 2019. PMID: 31390656
Phenogenon: Gene to phenotype associations for rare genetic diseases.
Pontikos N, Murphy C, Moghul I, Arno G, Fujinami K, Fujinami Y, Sumodhee D, Downes S, Webster A, Yu J; UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium. Pontikos N, et al. Among authors: fujinami y, fujinami k. PLoS One. 2020 Apr 9;15(4):e0230587. doi: 10.1371/journal.pone.0230587. eCollection 2020. PLoS One. 2020. PMID: 32271766 Free PMC article.
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2.
Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; East Asia Inherited Retinal Disease Society Study Group. Yang L, et al. Among authors: fujinami yokokawa y, fujinami k. Am J Ophthalmol. 2021 Jan;221:169-180. doi: 10.1016/j.ajo.2020.07.025. Epub 2020 Jul 21. Am J Ophthalmol. 2021. PMID: 32707201 Free article.
242 results