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K. Mizobuchi · SciRah

Researcher profile · Semantic Scholar

K. Mizobuchi

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K. Mizobuchi — researcher profile on SciRah

h-index: 16
Works: 83
Citations: 688

Most-cited papers

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
Katsuhiro Hosono, S. Nishina, Tadashi Yokoi, S. Katagiri +13 more
2018Scientific Reports44 citations Open access
Semantic Scholar
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers
Kentaro Kurata, Katsuhiro Hosono, T. Hayashi, K. Mizobuchi +7 more
2019International Journal of Molecular Sciences38 citations Open access
Semantic Scholar
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
Akiko Suga, K. Yoshitake, N. Minematsu, K. Tsunoda +36 more
2022Human Mutation36 citations Open access
Semantic Scholar
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency
Li-Zhu Yang, K. Fujinami, S. Ueno, K. Kuniyoshi +23 more
2020Scientific Reports36 citations Open access
Semantic Scholar
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association
Yu Fujinami-Yokokawa, K. Fujinami, K. Kuniyoshi, T. Hayashi +82 more
2020Scientific Reports32 citations Open access
Semantic Scholar
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort
S. Katagiri, T. Hayashi, Masaki Nakamura, K. Mizobuchi +16 more
2020Investigative Ophthalmology and Visual Science30 citations Open access
Semantic Scholar
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. Fujinami, A. Oishi, Li-Zhu Yang, G. Arno +16 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics28 citations Open access
Semantic Scholar
Electroretinographic abnormalities associated with pregabalin: a case report
Wakana Ninomiya, K. Mizobuchi, T. Hayashi, Sachiyo Okude +4 more
2020Documenta Ophthalmologica25 citations
Semantic Scholar
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN
K. Mizobuchi, T. Hayashi, N. Oishi, D. Kubota +11 more
2021Journal of Clinical Medicine23 citations Open access
Semantic Scholar
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder
Xiao Liu, K. Fujinami, K. Kuniyoshi, M. Kondo +21 more
2020Translational Vision Science & Technology23 citations Open access
Semantic Scholar
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
K. Mizobuchi, T. Hayashi, K. Yoshitake, K. Fujinami +4 more
2020Molecular Genetics & Genomic Medicine23 citations Open access
Semantic Scholar
Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
Y. Murakami, Y. Koyanagi, M. Fukushima, M. Yoshimura +23 more
2021Ophthalmology Retina22 citations Open access
Semantic Scholar
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy
T. Hayashi, S. Katagiri, K. Mizobuchi, K. Yoshitake +4 more
2020Ophthalmic Genetics21 citations
Semantic Scholar
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
S. Katagiri, Katsuhiro Hosono, T. Hayashi, Kentaro Kurata +6 more
2018Molecular Vision21 citations
Semantic Scholar
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy
T. Hayashi, Katsuhiro Hosono, Kentaro Kurata, S. Katagiri +5 more
2019Documenta Ophthalmologica20 citations
Semantic Scholar
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
Kensuke Goto, Y. Koyanagi, M. Akiyama, Yusuke Murakami +30 more
2023Journal of Medical Genetics17 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +166 more
2025medRxiv16 citations Open access
Semantic Scholar
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses
Tomoko Kutsuma, S. Katagiri, T. Hayashi, K. Yoshitake +10 more
2019Documenta Ophthalmologica16 citations
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +184 more
2026Nature Genetics11 citations Open access
Semantic Scholar
A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function
T. Hayashi, K. Mizobuchi, S. Kameya, S. Ueno +2 more
2023Documenta Ophthalmologica11 citations
Semantic Scholar
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization
Mai Miyagi, Jun Takeuchi, Y. Koyanagi, K. Mizobuchi +5 more
2021Graefe's Archive for Clinical and Experimental Ophthalmology11 citations Open access
Semantic Scholar
Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness
T. Hayashi, K. Mizobuchi, S. Kikuchi, Tadashi Nakano
2020Documenta Ophthalmologica11 citations
Semantic Scholar
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
K. Mizobuchi, T. Hayashi, S. Katagiri, K. Yoshitake +12 more
2019Scientific Reports11 citations Open access
Semantic Scholar
Genetic and clinical features of ABCA4-associated retinopathy in a Japanese nationwide cohort.
K. Mizobuchi, T. Hayashi, Koji Tanaka, K. Kuniyoshi +15 more
2024American journal of ophthalmology-glaucoma8 citations Open access
Semantic Scholar
A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy
T. Hayashi, K. Mizobuchi, S. Kameya, K. Yoshitake +2 more
2021Documenta Ophthalmologica8 citations
Semantic Scholar
The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
T. Hayashi, S. Katagiri, D. Kubota, K. Mizobuchi +4 more
2021Molecular Genetics & Genomic Medicine8 citations Open access
Semantic Scholar
ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance
S. Katagiri, Yuya Negishi, K. Mizobuchi, M. Urashima +2 more
2017Journal of Ophthalmology8 citations Open access
Semantic Scholar
Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19)
K. Mizobuchi, T. Hayashi, Ryo Ohira, Tadashi Nakano
2023Documenta Ophthalmologica7 citations
Semantic Scholar
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients
K. Torii, S. Nishina, Hazuki Morikawa, K. Mizobuchi +11 more
2023International Journal of Molecular Sciences7 citations Open access
Semantic Scholar
Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis
Ayaka Nakajima, K. Kuniyoshi, Chiharu Iwahashi, Fukutaro Mano +10 more
2023Frontiers in Medicine7 citations Open access
Semantic Scholar
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family
K. Mizobuchi, T. Hayashi, T. Matsuura, Tadashi Nakano
2022Documenta Ophthalmologica6 citations
Semantic Scholar
Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient
S. Katagiri, Katsuhiro Hosono, T. Hayashi, N. Murai +7 more
2020Documenta Ophthalmologica6 citations
Semantic Scholar
Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1
T. Hayashi, Katsuhiro Hosono, Akiko Kubo, Kentaro Kurata +10 more
2020American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy
K. Kuniyoshi, T. Hayashi, S. Kameya, S. Katagiri +10 more
2020International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families
T. Hayashi, S. Kameya, K. Mizobuchi, D. Kubota +6 more
2020Scientific Reports6 citations Open access
Semantic Scholar
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)
S. Katagiri, T. Hayashi, K. Mizobuchi, K. Yoshitake +2 more
2018Ophthalmic Genetics6 citations
Semantic Scholar
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan
Natsuki Higa, T. Hayashi, K. Mizobuchi, Maki Iwasa +6 more
2024Frontiers in Medicine5 citations Open access
Semantic Scholar
One year outcomes of oral treatment with alga capsules containing low levels of 9-cis-β-carotene in RDH5-related fundus albipunctatus.
K. Mizobuchi, T. Hayashi, S. Ueno, M. Kondo +3 more
2023American journal of ophthalmology-glaucoma5 citations Open access
Semantic Scholar
Surgical outcome comparisons of multifocal IOLs of Lentis Comfort LS-313 MF15 and Tecnis Eyhance DIB00V.
Kyohei Sugawara, Ryosuke Ito, H. Horiguchi, K. Mizobuchi +3 more
2023International Journal of Ophthalmology5 citations Open access
Semantic Scholar
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients
T. Hayashi, Y. Murakami, K. Mizobuchi, Y. Koyanagi +2 more
2021Ophthalmic Genetics5 citations
Semantic Scholar
Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)
K. Mizobuchi, S. Katagiri, T. Hayashi, K. Yoshitake +6 more
2018American Journal of Ophthalmology Case Reports5 citations Open access
Semantic Scholar
Relatively preserved retinal function in RPE65-associated retinopathy: a case report
K. Mizobuchi, T. Hayashi, S. Kameya, Yuri Ohta +2 more
2025Documenta Ophthalmologica4 citations
Semantic Scholar
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients
Y. Koyanagi, Yusuke Murakami, T. Kominami, Masatoshi Fukushima +24 more
2025npj Genomic Medicine4 citations Open access
Semantic Scholar
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
Akiko Suga, K. Mizobuchi, Taiga Inooka, K. Yoshitake +9 more
2024Genetics in medicine open4 citations Open access
Semantic Scholar
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas
Naoko Fukunaga, T. Hayashi, Yuki Yamada, K. Mizobuchi +2 more
2023Ophthalmic Genetics4 citations
Semantic Scholar
Corneal shape changes after vitreoretinal surgery with fluid–gas exchange
Akira Watanabe, Wakana Ninomiya, K. Mizobuchi, Tomoyuki Watanabe +1 more
2022Medicine3 citations Open access
Semantic Scholar
Case Report: Improved Choroidal Circulation in a Patient with Unilateral Acute Idiopathic Maculopathy
Akiko Sotozono, K. Mizobuchi, T. Hayashi, M. Shikauchi +1 more
2022Optometry and Vision Science3 citations
Semantic Scholar
Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene
Tamaki Morohashi, T. Hayashi, K. Mizobuchi, Tadashi Nakano +1 more
2022Documenta Ophthalmologica3 citations
Semantic Scholar
Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient
Nanami Kishimoto, T. Hayashi, K. Mizobuchi, Masaomi Kubota +1 more
2021Documenta Ophthalmologica3 citations
Semantic Scholar
Effectiveness of the Heads-Up Surgery System for Retinal Surgery in a Patient with Severe Photophobia
Yuka Saito, H. Horiguchi, K. Mizobuchi, S. Katagiri +2 more
2021International Medical Case Reports Journal3 citations Open access
Semantic Scholar

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T. Hayashi×46
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T. Hayashi — researcher profile on SciRah
Tadashi Nakano×35
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Tadashi Nakano — researcher profile on SciRah
S. Katagiri×21
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S. Katagiri — researcher profile on SciRah
K. Yoshitake×21
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K. Yoshitake — researcher profile on SciRah

×17

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T. Iwata — researcher profile on SciRah

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S. Ueno — researcher profile on SciRah

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K. Tsunoda — researcher profile on SciRah

K. Kuniyoshi×13

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K. Kuniyoshi — researcher profile on SciRah

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S. Kameya — researcher profile on SciRah

K. Fujinami×11

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K. Fujinami — researcher profile on SciRah

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Y. Hotta — researcher profile on SciRah

Kentaro Kurata×9

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Kentaro Kurata — researcher profile on SciRah