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Year Number of Results
2015 2
2016 16
2017 13
2018 23
2019 33
2020 36
2021 28
2022 39
2023 49
2024 12

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217 results

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Page 1
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Suga A, et al. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. Rodilla C, et al. Am J Ophthalmol. 2023 Oct;254:87-103. doi: 10.1016/j.ajo.2023.05.015. Epub 2023 Jun 15. Am J Ophthalmol. 2023. PMID: 37327959 Free article.
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 Free PMC article.
The research output of rod-cone dystrophy genetics.
Jaffal L, Mrad Z, Ibrahim M, Salami A, Audo I, Zeitz C, El Shamieh S. Jaffal L, et al. Orphanet J Rare Dis. 2022 Apr 23;17(1):175. doi: 10.1186/s13023-022-02318-5. Orphanet J Rare Dis. 2022. PMID: 35461258 Free PMC article. Review.
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.
Santos C, Almeida A, Pinto R, Kaminska K, Peter VG, Sousa AB, Rivolta C, Coutinho-Santos L. Santos C, et al. Ophthalmic Genet. 2022 Aug;43(4):576-580. doi: 10.1080/13816810.2022.2103834. Epub 2022 Jul 28. Ophthalmic Genet. 2022. PMID: 35903041 No abstract available.
EYS-Associated Sector Retinitis Pigmentosa.
Marques JP, Porto FBO, Carvalho AL, Neves E, Chen R, Sampaio SAM, Murta J, Saraiva J, Silva R. Marques JP, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Apr;260(4):1405-1413. doi: 10.1007/s00417-021-05411-w. Epub 2021 Sep 27. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 34568954
217 results