2024

Original article

• 1.Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads　Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Scharer N, Hauenstein D, Gyorgy B, Calzetti G, Hahaut V, Custodio S, Sousa AC, Wada Y, Murakami Y, Fernandez AA, Hernandez CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C; Am J Hum Genet. 111:1-13, 2024/03/25
• 2.Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases　Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, Iijima H, Yamaguchi M, Hashimoto K, Ishizu M, Hirakata T, Mizobuchi K, Takayama M, Ota J, Fujita-Sajiki A , Kominami T, Ushida H, Fujita K, Kaneko H, Ueno S, Hayashi T, Terao C, Hotta Y, Murakami A, Kuniyoshi K, Kusaka S, Wada Y, Abe T, Nakazawa T, Ikeda Y, Momozawa Y, Sonoda KH, Nishiguchi KM; J Med Genet. 2024/03/18 [Epub ahead of print]
• 3.Genetic and clinical features of ABCA4-associated retinopathy in a Japanese nationwide cohort　Mizobuchi K, Hayashi T, Tanaka K, Kuniyoshi K, Murakami Y, Nakamura N, Torii K, Mizota A, Maeda A, Kominami T, Ueno S, Nishiguchi KM, Ikeda Y, Kondo M, Tsunoda K, Hotta Y, Nakano T; Am J Ophthalmol. 2024/03/16 [Epub ahead of print]
• 4.Association between corneal hysteresis and glaucoma in a Japanese population: The Hisayama Study　Fujiwara K, Ueda E, Hata J, Nakano S, Hashimoto S, Nakamura S, Murakami Y, Kubota Toshiaki, Yoshitomi T, Ninomiya T, Sonoda KH; Br J Ophthalmol. 2024/03/12 [Epub ahead of print]
• 5.Wide-field choroidal thickness analysis after half-fluence photodynamic therapy combined with intravitreal aflibercept injection in pachychoroid neovasculopathy　Fukuda Y, Notomi S, Shiose S, Maehara Y, Kiyohara K, Hashimoto S, Kano K, Ishikawa K, Hisatomi T, Sonoda KH; J Clin Med 13(6):1608, 2024/03/11
• 6.Deep Learning Model for Extensive Smartphone-based Diagnosis and Triage of Cataracts and Multiple Corneal Diseases.　Ueno Y, Oda M, Yamaguchi T, Fukuoka H, Nejima R, Kitaguchi Y, Miyake M, Akiyama M, Miyata K, Kashiwagi K, Maeda N, Shimazaki J, Noma H, Mori K, Oshika T; Br J Ophthalmol. 2024/01/19 [Epub ahead of print]
• 7.X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements　Markus Scholz, Katrin Horn, Janne Pott, Matthias Wuttke, Andreas Kühnapfel, M. Kamal Nasr, Holger Kirsten, Yong Li, Anselm Hoppmann, Mathias Gorski, Sahar Ghasemi, Man Li, Adrienne Tin, Jin-Fang Chai, Massimiliano Cocca, Judy Wang, Teresa Nutile, Akiyama M, Bjørn Olav Åsvold, Nisha Bansal, Mary L. Biggs, Thibaud Boutin, Hermann Brenner, Ben Brumpton, Ralph Burkhardt, Jianwen Cai, Archie Campbell, Harry Campbell, John Chalmers, Daniel I. Chasman, Miao Ling Chee, Miao Li Chee, Xu Chen, Ching-Yu Cheng, Renata Cifkova, Martha Daviglus, Graciela Delgado, Katalin Dittrich, Todd L. Edwards, Karlhans Endlich, J. Michael Gaziano, Ayush Giri, Franco Giulianini, Scott D. Gordon, Daniel F. Gudbjartsson, Stein Hallan, Pavel Hamet, Catharina A. Hartman, Caroline Hayward, et al.; Nat Commun . 15:1, 2024/01/18
• 8.Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels　Mingyang Shi, Chizu Tanikawa, Hans Markus Munter, Akiyama M, Satoshi Koyama, Kohei Tomizuka, Koichi Matsuda, Gregory Mark Lathrop, Chikashi Terao, Masaru Koido, Yoichiro Kamatani; Briefings in Bioinformatics 25:1, 2024/01/13
• 9.Human Conjunctiva Organoids to Study Ocular Surface Homeostasis and Disease　Bannier-Hélaouët M, Jeroen Korving, Ziliang Ma, Harry Begthel, Amir Giladi, Mart M. Lamers, Willine J. van de Wetering, Nobuyo Yawata, Makoto Yawata, Vanessa L. S. LaPointe, Mor M. Dickman, Rachel Kalmann, Saskia M. Imhoff, Johan H. van Es, Carmen López-Iglesias, Peter J. Peters, Bart L. Haagmans, Wei Wu, Hans Clevers; Cell Stem Cell 31:1-17, 2024/01/11
• 10.Genotypes and Clinical Features of RHO-associated Retinitis Pigmentosa　Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH; Jpn J Ophthalmol. 68(1):1-11, 2024/01/01

Oral & Poster presentation

• 1.SANDCAT Study Design: Phase 3 Trial Intravitreal RG6179（anti–IL-6 mAb) for UME　Sonoda KH, Ebata Y, Steeples L, Haskova Z, Elze M, Macgregor L, Silverman D, Gotoh H; Annual Meeting of the Japanese Ophthalmological Society, Tokyo,Japan, 2024/04/21
• 2.Elucidating activation loci of RIPK/necroptosis in retinitis pigmentosa toward development of anti-RIPK therapy　Tao Yan, Shimokawa S, Zhao Huanyu, Furukawa T, Fukushima M, Hisai T, Sonoda KH, Murakami Y; Annual Meeting of the Japanese Ophthalmological Society, Tokyo,Japan, 2024/04/19
• 3.Single Cell Analysis of Peripheral Blood Mononuclear Cells in Retinitis Pigmentosa　Shimokawa S, Murakami Y, Hisai Takahiro, Zhao Huanyu, Fukushima M, Tao Yan, Sonoda KH; Annual Meeting of the Japanese Ophthalmological Society, Tokyo,Japan, 2024/04/19
• 4.Switching to faricimab reduces persistent subretinal and pigment epithelial fluid in neovascular age-related macular degeneration　Maehara Y, Notomi S, Shiose S, Fukuda Y, Kiyohara K, Hashimoto S, Kano K, Ishikawa K, Sonoda KH; Annual Meeting of the Japanese Ophthalmological Society, Tokyo,Japan, 2024/04/18
• 5.Long-read sequencing for retinitis pigmentosa　Akiyama M; FujiRetina 2024, Tokyo,Japan, 2024/03/24
• 6.The choroidal thickness change by photodynamic therapy for central serous chorioretinopathy eyes　Maehara Y, Shiose S, Notomi S, Fukuda Y, Kiyohara K, Hashimoto S, Kano K, Ishikawa K, Sonoda KH; Fuji Retina, Tokyo,Japan, 2024/03/23
• 7.Observation of postoperative proliferation in an eye treated for rhegmatogenous retinal detachment by wide-field OCT　Ishikawa K; FujiRetina, Tokyo,Japan, 2024/03/22
• 8.Two Cases with Bietti Crystalline Dystrophy Showing Pseudodominant Inheritance　Murakami Y; FUJIRetina, Tokyo,Japan, 2024/03/22
• 9.Transcriptome analysis of sebaceous carcinoma and basal cell carcinoma of the eyelid unveils differentially expressed genes and relevant biological process.　Akiyama M, Tanabe M, Sano Y, Funatsu N, Fujii Y, Sonoda KH; The 39th Asia-Pacific Academy of Ophthalmology Congress, Bali, Indonesia, 2024/02/23

Others

• 1.Comprehensive analysis of ocular fluid of uveitis　Sonoda KH; 2024 TMS Spring Meeting Kaohsiung, Taiwan, 2024/03/16
• 2.Neuroprotective Gene Therapy for Patietns with Retinitis Pigmentosa　Murakami Y; Seminar with Prof. Andreas K Lauer 福岡県, 2024/01/26