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Documenta Ophthalmologica. Advances in Ophthalmology|March 17, 2019
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responsesTomoko Kutsuma, Satoshi Katagiri, Takaaki Hayashi, et al.American Journal of Medical Genetics. Part A|March 29, 2020
Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1Takaaki Hayashi, Katsuhiro Hosono, Akiko Kubo, et al.Journal of Clinical Medicine|June 2, 2021
Genotype-Phenotype Correlations in <i>RP1</i>-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPANKei Mizobuchi, Takaaki Hayashi, Noriko Oishi, et al.International Journal of Molecular Sciences|September 28, 2023
The Structural Abnormalities Are Deeply Involved in the Cause of <i>RPGRIP1</i>-Related Retinal Dystrophy in Japanese PatientsKaoruko Torii, Sachiko Nishina, Hazuki Morikawa, et al.Retina (Philadelphia, Pa.)|September 17, 2024
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPANTaiga Inooka, Takaaki Hayashi, Kazushige Tsunoda, et al.Investigative Ophthalmology & Visual Science|May 19, 2026
Initial Site of Macular Involvement in Central Retinal Dystrophies Revealed by Fundus Autofluorescence and Optical Coherence TomographyHirohiko Kawashima, Kei Mizobuchi, Takaaki Hayashi, et al.Retina (Philadelphia, Pa.)|February 10, 2026
Deletion involving exon 18 of RPGRIP1 is a major cause of achromatopsiaTaiga Inooka, Kei Mizobuchi, Takaaki Hayashi, et al.Ophthalmic Genetics|December 17, 2025
A <i>de novo</i> splice-site variant in the <i>retinitis pigmentosa 2</i> (<i>RP2</i>) gene identified in a symptomatic carrier womanAya Domoto, Kazuki Kuniyoshi, Akiko Suga, et al.Scientific Reports|November 16, 2019
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophiesKei Mizobuchi, Takaaki Hayashi, Satoshi Katagiri, et al.Scientific Reports|May 31, 2018
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation SequencingKatsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, et al.Pageof 8