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Ophthalmic Genetics|November 25, 2025
Limitations of short-read NGS in detecting <i>RP1 Alu</i> insertions: a case emphasizing Sanger confirmationTakaaki Hayashi, Kei Mizobuchi, Natsuki Higa, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|June 19, 2026
Clinical course of a patient with PRSS56-associated nanophthalmos (isolated microphthalmia) and uveal effusion syndromeYukari Taguchi, Kazuki Kuniyoshi, Kei Mizobuchi, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|May 26, 2021
Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case reportTakaaki Hayashi, Hiroyuki Kondo, Itsuka Matsushita, et al.
Molecular Genetics & Genomic Medicine|May 23, 2020
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findingsKei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 5, 2020
Electroretinographic abnormalities associated with pregabalin: a case reportWakana Ninomiya, Kei Mizobuchi, Takaaki Hayashi, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|April 3, 2020
Improvement of reduced electroretinographic responses in thymoma-associated retinopathy: a case report and literature reviewKei Mizobuchi, Takaaki Hayashi, Satoshi Katagiri, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|October 5, 2019
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophyTakaaki Hayashi, Katsuhiro Hosono, Kentaro Kurata, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|October 18, 2021
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularizationMai Miyagi, Jun Takeuchi, Yoshito Koyanagi, et al.
American Journal of Ophthalmology Case Reports|January 9, 2019
Clinical findings of end-stage retinitis pigmentosa with a homozygous <i>PDE6A</i> variant (p.R653X)Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, et al.
Molecular Vision|April 24, 2018
Early onset flecked retinal dystrophy associated with new compound heterozygous <i>RPE65</i> variantsSatoshi Katagiri, Katsuhiro Hosono, Takaaki Hayashi, et al.
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