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Page 1
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
García-Bohórquez B, Barberán-Martínez P, Aller E, Jaijo T, Mínguez P, Rodilla C, Fernández-Caballero L, Blanco-Kelly F, Ayuso C, Sanchis-Juan A, Broekman S, de Vrieze E, van Wijk E, García-García G, Millán JM. García-Bohórquez B, et al. Among authors: fernandez caballero l. Mol Ther Nucleic Acids. 2024 Oct 28;35(4):102374. doi: 10.1016/j.omtn.2024.102374. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39629117 Free PMC article.
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus.
Rodilla C, Núñez-Moreno G, Benitez Y, Romero R, Fernández-Caballero L, Mínguez P, Corton M, Ayuso C. Rodilla C, et al. Among authors: fernandez caballero l. Front Genet. 2024 Oct 14;15:1439153. doi: 10.3389/fgene.2024.1439153. eCollection 2024. Front Genet. 2024. PMID: 39469149 Free PMC article.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C. Fernández-Caballero L, et al. Int J Mol Sci. 2024 Mar 2;25(5):2913. doi: 10.3390/ijms25052913. Int J Mol Sci. 2024. PMID: 38474159 Free PMC article.
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Rodríguez-Hidalgo M, de Bruijn SE, Corradi Z, Rodenburg K, Lara-López A, Valverde-Megías A, Ávila-Fernández A, Fernandez-Caballero L, Del Pozo-Valero M, Corominas J, Gilissen C, Irigoyen C, Cremers FPM, Ayuso C, Ruiz-Ederra J, Roosing S. Rodríguez-Hidalgo M, et al. Among authors: fernandez caballero l. Front Genet. 2023 Sep 7;14:1234032. doi: 10.3389/fgene.2023.1234032. eCollection 2023. Front Genet. 2023. PMID: 37779911 Free PMC article.
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.
Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group. Castro-Santos P, et al. HLA. 2023 Dec;102(6):731-739. doi: 10.1111/tan.15160. Epub 2023 Aug 1. HLA. 2023. PMID: 37528566
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 Jul;619(7971):E61. doi: 10.1038/s41586-023-06383-z. Nature. 2023. PMID: 37433877 Free PMC article. No abstract available.
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 May;617(7962):764-768. doi: 10.1038/s41586-023-06034-3. Epub 2023 May 17. Nature. 2023. PMID: 37198478 Free PMC article.
Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study.
López-Rodríguez R, Ruiz-Hornillos J, Cortón M, Almoguera B, Minguez P, Pérez-Tomás ME, Barreda-Sánchez M, Mancebo E, Ondo L, Martínez-Ramas A, Fernández-Caballero L, Taracido-Fernández JC, Herrero-González A, Mahillo I; STOP_Coronavirus Study Group; Paz-Artal E, Guillén-Navarro E, Ayuso C. López-Rodríguez R, et al. Among authors: fernandez caballero l. Andrology. 2023 Jan;11(1):24-31. doi: 10.1111/andr.13339. Epub 2022 Nov 28. Andrology. 2023. PMID: 36375449 Free PMC article.
14 results