1）Hartong DT, Berson EL, Dryja TP：Retinitis pigmentosa. Lancet 368：1795-1809, 2006
2）Campochiaro PA, Mir TA：The mechanism of cone cell death in retinitis pigmentosa. Prog Retin Eye Res 62：24-37, 2018
3）Nishiguchi KM, Fujita K, Miya F et al：Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice. Nat Commun 11：482, 2020
4）Stone EM, Andorf JL, Whitmore SS et al：Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology 124：1314-1331, 2017
5）Gao FJ, Li JK, Chen H et al：Genetic and clinical findings in a large cohort of Chinese patients with suspected retinitis pigmentosa. Ophthalmology 126：1549-1556, 2019
6）Weisschuh N, Obermaier CD, Battke F et al：Genetic architecture of inherited retinal degeneration in Germany：a large cohort study from a single diagnostic center over a 9-year period. Hum Mutat 41：1514-1527, 2020
7）Sharon D, Ben-Yosef T, Cohen NG et al：A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium（IIRDC）. Hum Mutat 41：140-149, 2020
8）Goetz KE, Reeves MJ, Gagadam S et al：Genetic testing for inherited eye conditions in over 6,000 individuals through the eye GENE network. Am J Med Genet C Semin Med Genet 184：828-837, 2020
9）Perea-Romero I, Gordo G, Iancu IF et al：Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci Rep 11：1526, 2021
10）Pontikos N, Arno G, Jurkute N et al：Genetic basis of inherited retinal disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Ophthalmology 127：1384-1394, 2020
11）Nishiguchi KM, Miya F, Mori Y et al：A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Commun Biol 4：140, 2021
12）Sano Y, Koyanagi Y, Wong JH et al：Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. J Med Genet. doi：10.1136/jmedgenet-2022-108428, 2022
13）Oishi M, Oishi A, Gotoh N et al：Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol Vis Sci 55：7369-7375, 2014
14）Maeda A, Yoshida A, Kawai K et al：Development of a molecular diagnostic test for retinitis pigmentosa in the Japanese population. Jpn J Ophthalmol 62：451-457, 2018
15）Koyanagi Y, Akiyama M, Nishiguchi KM et al：Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J Med Genet 56：662-670, 2019
16）Numa S, Oishi A, Higasa K et al：EYS is a major gene involved in retinitis pigmentosa in Japan：genetic landscapes revealed by stepwise genetic screening. Sci Rep. doi：10.1038/s41598-020-77558-1, 2020
17）Richards S, Aziz N, Bale S et al：Standards and guidelines for the interpretation of sequence variants：a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17：405-424, 2015
18）Oza AM, DiStefano MT, Hemphill SE et al：Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat 39：1593-1613, 2018
19）Abou Tayoun AN, Pesaran T, DiStefano MT et al：Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat 39：1517-1524, 2018
20）Chavez A, Scheiman J, Vora S et al：Highly efficient Cas9-mediated transcriptional programming. Nat Methods 12：326-328, 2015
21）Gilbert LA, Larson MH, Morsut L et al：CRISPR-mediated modular RNA-guided regulation of transcription in eukaryotes. Cell 154：442-451, 2013
ログイン
ランキング
お知らせ
ログイン
