Items where Author is "Nishiguchi, Koji M."

2021

Nishiguchi, Koji M. and Miya, Fuyuki and Mori, Yuka and Fujita, Kosuke and Akiyama, Masato and Kamatani, Takashi and Koyanagi, Yoshito and Sato, Kota and Takigawa, Toru and Ueno, Shinji and Tsugita, Misato and Kunikata, Hiroshi and Cisarova, Katarina and Nishino, Jo and Murakami, Akira and Abe, Toshiaki and Momozawa, Yukihide and Terasaki, Hiroko and Wada, Yuko and Sonoda, Koh-Hei and Rivolta, Carlo and Tsunoda, Tatsuhiko and Tsujikawa, Motokazu and Ikeda, Yasuhiro and Nakazawa, Toru. (2021) A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Communications Biology, 4 (1). p. 140.

2020

Ueno, Shinji and Koyanagi, Yoshito and Kominami, Taro and Ito, Yasuki and Kawano, Kenichi and Nishiguchi, Koji M. and Rivolta, Carlo and Nakazawa, Toru and Sonoda, Koh-Hei and Terasaki, Hiroko. (2020) Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants. Japanese Journal of Ophthalmology, 64 (5). pp. 485-496.

2019

Nikopoulos, Konstantinos and Cisarova, Katarina and Quinodoz, Mathieu and Koskiniemi-Kuendig, Hanna and Miyake, Noriko and Farinelli, Pietro and Rehman, Atta Ur and Khan, Muhammad Imran and Prunotto, Andrea and Akiyama, Masato and Kamatani, Yoichiro and Terao, Chikashi and Miya, Fuyuki and Ikeda, Yasuhiro and Ueno, Shinji and Fuse, Nobuo and Murakami, Akira and Wada, Yuko and Terasaki, Hiroko and Sonoda, Koh-Hei and Ishibashi, Tatsuro and Kubo, Michiaki and Cremers, Frans P. M. and Kutalik, Zoltán and Matsumoto, Naomichi and Nishiguchi, Koji M. and Nakazawa, Toru and Rivolta, Carlo. (2019) A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications, 10 (1). p. 2884.

Verbakel, Sanne K. and van Huet, Ramon A. C. and den Hollander, Anneke I. and Geerlings, Maartje J. and Kersten, Eveline and Klevering, B. Jeroen and Klaver, Caroline C. W. and Plomp, Astrid S. and Wesseling, Nieneke L. and Bergen, Arthur A. B. and Nikopoulos, Konstantinos and Rivolta, Carlo and Ikeda, Yasuhiro and Sonoda, Koh-Hei and Wada, Yuko and Boon, Camiel J. F. and Nakazawa, Toru and Hoyng, Carel B. and Nishiguchi, Koji M.. (2019) Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. Investigative Ophthalmology & Visual Science, 60 (4). pp. 1192-1203.

2015

Saqib, Muhammad Arif Nadeem and Nikopoulos, Konstantinos and Ullah, Ehsan and Sher Khan, Falak and Iqbal, Jamila and Bibi, Rabia and Jarral, Afeefa and Sajid, Sundus and Nishiguchi, Koji M. and Venturini, Giulia and Ansar, Muhammad and Rivolta, Carlo. (2015) Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. Scientific Reports, 5. 09965.

2014

Nishiguchi, Koji M. and Avila-Fernandez, Almudena and van Huet, Ramon A. C. and Corton, Marta and Pérez-Carro, Raquel and Martín-Garrido, Esther and López-Molina, María Isabel and Blanco-Kelly, Fiona and Hoefsloot, Lies H. and van Zelst-Stams, Wendy A. and García-Ruiz, Pedro J. and Del Val, Javier and Di Gioia, Silvio Alessandro and Klevering, B. Jeroen and van de Warrenburg, Bart P. C. and Vazquez, Carlos and Cremers, Frans P. M. and García-Sandoval, Blanca and Hoyng, Carel B. and Collin, Rob W. J. and Rivolta, Carlo and Ayuso, Carmen. (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology, 121 (8). pp. 1620-1627.

2013

Corton, Marta and Nishiguchi, Koji M. and Avila-Fernández, Almudena and Nikopoulos, Konstantinos and Riveiro-Alvarez, Rosa and Tatu, Sorina D. and Ayuso, Carmen and Rivolta, Carlo. (2013) Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. PLoS ONE, 8 (6). e65574.

Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144.

2012

Nishiguchi, Koji M. and Rivolta, Carlo. (2012) Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population. PLoS ONE, 7 (7). e41902.

Avila-Fernandez, Almudena and Corton, Marta and Nishiguchi, Koji M. and Muñoz-Sanz, Nelida and Benavides-Mori, Belen and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Garcia-Sandoval, Blanca and Rivolta, Carlo and Ayuso, Carmen. (2012) Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. Ophthalmology, 119 (12). pp. 2616-2621.