Megumi Yamamoto

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Y. Hayashizaki, M. Itoh, H. Kawaji, 2020, Scientific Reports.

Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.

Jianping Ye, K. Yoshitake, T. Iwata, 2020, Human molecular genetics.

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Y. Hayashizaki, H. Kawaji, K. Tsubota, 2020, Scientific Reports.

Observational study

T. Mimura, A. Mizota, Yoshinobu Mizuno, 2019 .

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Y. Hayashizaki, H. Kawaji, K. Tsubota, 2020, Scientific Reports.

METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma

M. Araie, K. Kashiwagi, M. Aihara, 2022, The Journal of clinical investigation.

Binding of Gtf2i-β/δ transcription factors to the ARMS2 gene leads to increased circulating HTRA1 in AMD patients and in vitro

T. Das, R. Guymer, M. DeAngelis, 2021, The Journal of biological chemistry.

Bilateral Iris Mammillations in Amblyopic Eyes without Oculodermal Melanocytosis or Neurofibromatosis

T. Mimura, A. Mizota, Megumi Yamamoto, 2018, Case reports in ophthalmological medicine.