Haque MN, Kurata K, Hosono K, Ohtsubo M, Ohishi K, Sato M, Minoshima S, Hotta Y: A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel frameshift and known missense variants. Hum Genome Var 2019 Apr 12;6:18. doi: 10.1038/s41439-019-0048-8. eCollection 2019
Miyamichi D, Nishina S, Hosono K, Yokoi T, Kurata K, Sato M, Hotta Y, Azuma N: Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations. Hum Genome Var. 2019 Jun 27;6:32. doi: 10.1038/s41439-019-0064-8. eCollection 2019.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K-H: Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17.
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T: Phenotypic features of Oguchi disease and retinitis pigmentosa in patients with S-antigen mutations: a long-term follow-up study. Ophthalmology. 2019 Nov;126(11):1557-1566. doi: 10.1016/j.ophtha.2019.05.027. Epub 2019 Jun 6.
Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y: Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. Doc Ophthalmol. 2020 Apr;140(2):147-157. doi: 10.1007/s10633-019-09727-1. Epub 2019 Oct 3.
Katagiri S, Hosono K, Hayashi T, Murai N, Wake E, Miyata I, Mizobuchi K, Kurata K, Matsuura T, Nakano T, Hotta Y. Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient. Doc Ophthalmol. 2020 Aug;141(1):77-88. doi: 10.1007/s10633-020-09752-5. Epub 2020 Jan 29.