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Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20.
Ophthalmology. 2019.
PMID: 30902645
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I, Aguilera-Garcia D, Fernandez-San Jose P, Blanco-Kelly F, Zurita O, Almoguera B, Garcia-Sandoval B, Avila-Fernandez A, Arteche A, Minguez P, Carballo M, Corton M, Ayuso C.
Martin-Merida I, et al. Among authors: aguilera garcia d.
Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854.
Invest Ophthalmol Vis Sci. 2018.
PMID: 29847639
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C.
Perea-Romero I, et al.
Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y.
Sci Rep. 2021.
PMID: 33452396
Free PMC article.
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C.
Perea-Romero I, et al.
Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4.
Sci Rep. 2021.
PMID: 33972629
Free PMC article.
No abstract available.
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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study; Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK.
Ceroni F, et al. Among authors: aguilera garcia d.
Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20.
Hum Genet. 2019.
PMID: 29464339
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Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P, Aimi F, Zoche M, Aguilera-Garcia D, Arnold F, Moch H, Hottiger MO.
Schraml P, et al. Among authors: aguilera garcia d.
J Pathol Clin Res. 2023 Jul;9(4):273-284. doi: 10.1002/cjp2.320. Epub 2023 Mar 31.
J Pathol Clin Res. 2023.
PMID: 36999983
Free PMC article.
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Unravelling homologous recombination repair deficiency and therapeutic opportunities in soft tissue and bone sarcoma.
Planas-Paz L, Pliego-Mendieta A, Hagedorn C, Aguilera-Garcia D, Haberecker M, Arnold F, Herzog M, Bankel L, Guggenberger R, Steiner S, Chen Y, Kahraman A, Zoche M, Rubin MA, Moch H, Britschgi C, Pauli C.
Planas-Paz L, et al. Among authors: aguilera garcia d.
EMBO Mol Med. 2023 Apr 11;15(4):e16863. doi: 10.15252/emmm.202216863. Epub 2023 Feb 13.
EMBO Mol Med. 2023.
PMID: 36779660
Free PMC article.
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Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment.
Betschart RO, Thiéry A, Aguilera-Garcia D, Zoche M, Moch H, Twerenbold R, Zeller T, Blankenberg S, Ziegler A.
Betschart RO, et al. Among authors: aguilera garcia d.
Sci Rep. 2022 Dec 13;12(1):21502. doi: 10.1038/s41598-022-26181-3.
Sci Rep. 2022.
PMID: 36513709
Free PMC article.
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