Yu Fujinami-Yokokawa

发表

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

E. Zrenner, D. Sharon, K. Tsunoda, 2021, American journal of ophthalmology.

Spatial Functional Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.2.

K. Tsubota, K. Tsunoda, Nikolas Pontikos, 2020, American journal of ophthalmology.

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.

K. Tsubota, K. Tsunoda, G. Arno, 2019, Ophthalmology.

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

K. Tsunoda, N. Pontikos, K. Yoshitake, 2019, Journal of ophthalmology.

Stargardt Macular Dystrophy

Nikolas Pontikos, G. Arno, Kaoru Fujinami, 2022, Inherited Retinal Disease.

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

K. Tsubota, K. Tsunoda, Kaoru Fujinami, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

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.

Stargardt Macular Dystrophy

Nikolas Pontikos, G. Arno, Kaoru Fujinami, 2022, Inherited Retinal Disease.

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder

K. Tsubota, K. Tsunoda, Nikolas Pontikos, 2020, Translational vision science & technology.

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.

Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

K. Tsubota, K. Tsunoda, A. Tsujikawa, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

X-linked Retinoschisis: Deep Phenotyping and Genetic Characterization.

G. Virgili, O. Mahroo, M. Michaelides, 2021, Ophthalmology.

Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques

K. Tsunoda, N. Pontikos, K. Yoshitake, 2021, British Journal of Ophthalmology.

RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association

K. Tsubota, K. Tsunoda, Nikolas Pontikos, 2020, American journal of medical genetics. Part C, Seminars in medical 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.

Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3

K. Tsunoda, M. Kondo, Seong Joon Ahn, 2022, Investigative ophthalmology & visual science.

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.

K. Tsunoda, Nikolas Pontikos, G. Arno, 2019, Investigative ophthalmology & visual science.

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

O. Mahroo, M. Michaelides, A. Webster, 2022, American journal of ophthalmology.

Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants

K. Tsunoda, K. Yoshitake, Y. Miyake, 2019, Human Genome Variation.

Long-term follow-up of a Chinese patient with KCNV2-retinopathy

K. Tsubota, Kaoru Fujinami, Yu Fujinami-Yokokawa, 2020, Ophthalmic genetics.

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

E. Zrenner, D. Sharon, K. Tsunoda, 2020, American journal of ophthalmology.

CERKL-associated retinal dystrophy: Genetics, Phenotype and Natural History.

O. Mahroo, M. Michaelides, A. Webster, 2023, Ophthalmology. Retina.

Stargardt macular dystrophy and therapeutic approaches

Kaoru Fujinami, Yu Fujinami-Yokokawa, Paul Yang, 2023, British Journal of Ophthalmology.

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5

K. Tsunoda, M. Kondo, Seong Joon Ahn, 2023, Genes.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

M. Georgiou, A. Robson, A. Kalitzeos, 2024, Progress in Retinal and Eye Research.

"Congenital Stationary Night Blindness: Structure, Function and Genotype - Phenotype Correlations in a cohort of 122 patients."

M. Georgiou, Yu Fujinami-Yokokawa, Michel Michaelides, 2024, Ophthalmology. Retina.