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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
de Bruijn SE, Panneman DM, Weisschuh N, Cadena EL, Boonen EGM, Holtes LK, Astuti GDN, Cremers FPM, Leijsten N, Corominas J, Gilissen C, Skowronska A, Woodley J, Beggs AD, Toulis V, Chen D, Cheetham ME, Hardcastle AJ, McLaren TL, Lamey TM, Thompson JA, Chen FK, de Roach JN, Urwin IR, Sullivan LS, Roosing S. de Bruijn SE, et al. Among authors: corominas j. Front Genet. 2024 Oct 23;15:1469686. doi: 10.3389/fgene.2024.1469686. eCollection 2024. Front Genet. 2024. PMID: 39507620 Free PMC article.
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R, de Bruijn SE, Zahid M, Rodenburg K, Hitti-Malin RJ, Rodríguez-Hidalgo M, Boonen EGM, Jarral A, Mahmood A, Corominas J, Khalil S, Zai JA, Ali G, Ruiz-Ederra J, Gilissen C, Cremers FPM, Ansar M, Panneman DM, Roosing S. Basharat R, et al. Among authors: corominas j. Exp Eye Res. 2024 Jul;244:109945. doi: 10.1016/j.exer.2024.109945. Epub 2024 May 28. Exp Eye Res. 2024. PMID: 38815792 Free 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: corominas j. Front Genet. 2023 Sep 7;14:1234032. doi: 10.3389/fgene.2023.1234032. eCollection 2023. Front Genet. 2023. PMID: 37779911 Free PMC article.
Safety and immunogenicity of a recombinant protein RBD fusion heterodimer vaccine against SARS-CoV-2.
Leal L, Pich J, Ferrer L, Nava J, Martí-Lluch R, Esteban I, Pradenas E, Raïch-Regué D, Prenafeta A, Escobar K, Pastor C, Ribas-Aulinas M, Trinitè B, Muñoz-Basagoiti J, Domenech G, Clotet B, Corominas J, Corpes-Comes A, Garriga C, Barreiro A, Izquierdo-Useros N, Arnaiz JA, Soriano A, Ríos J, Nadal M, Plana M, Blanco J, Prat T, Torroella E, Ramos R; HIPRA-HH-1 study group. Leal L, et al. Among authors: corominas j. NPJ Vaccines. 2023 Sep 29;8(1):147. doi: 10.1038/s41541-023-00736-5. NPJ Vaccines. 2023. PMID: 37775521 Free PMC article.
Safety and immunogenicity of the protein-based PHH-1V compared to BNT162b2 as a heterologous SARS-CoV-2 booster vaccine in adults vaccinated against COVID-19: a multicentre, randomised, double-blind, non-inferiority phase IIb trial.
Corominas J, Garriga C, Prenafeta A, Moros A, Cañete M, Barreiro A, González-González L, Madrenas L, Güell I, Clotet B, Izquierdo-Useros N, Raïch-Regué D, Gallemí M, Blanco J, Pradenas E, Trinité B, Prado JG, Blanch-Lombarte O, Pérez-Caballero R, Plana M, Esteban I, Pastor-Quiñones C, Núñez-Costa X, Taleb RA, McSkimming P, Soriano A, Nava J, Anagua JO, Ramos R, Lluch RM, Comes AC, Romero SO, Gomez XM, Sans-Pola C, Moltó J, Benet S, Bailón L, Arribas JR, Borobia AM, Parada JQ, Navarro-Pérez J, Forner Giner MJ, Lucas RO, Jiménez MDMV, Compán SO, Alvarez-Mon M, Troncoso D, Arana-Arri E, Meijide S, Imaz-Ayo N, García PM, de la Villa Martínez S, Fernández SR, Prat T, Torroella È, Ferrer L. Corominas J, et al. Lancet Reg Health Eur. 2023 May;28:100613. doi: 10.1016/j.lanepe.2023.100613. Epub 2023 Apr 14. Lancet Reg Health Eur. 2023. PMID: 37131861 Free PMC article.
Preclinical evaluation of a COVID-19 vaccine candidate based on a recombinant RBD fusion heterodimer of SARS-CoV-2.
Barreiro A, Prenafeta A, Bech-Sabat G, Roca M, Perozo Mur E, March R, González-González L, Madrenas L, Corominas J, Fernández A, Moros A, Cañete M, Molas M, Pentinat-Pelegrin T, Panosa C, Moreno A, Puigvert Molas E, Pol Vilarrassa E, Palmada J, Garriga C, Prat Cabañas T, Iglesias-Fernández J, Vergara-Alert J, Lorca-Oró C, Roca N, Fernández-Bastit L, Rodon J, Pérez M, Segalés J, Pradenas E, Marfil S, Trinité B, Ortiz R, Clotet B, Blanco J, Díaz Pedroza J, Ampudia Carrasco R, Rosales Salgado Y, Loubat-Casanovas J, Capdevila Larripa S, Prado JG, Barretina J, Sisteré-Oró M, Cebollada Rica P, Meyerhans A, Ferrer L. Barreiro A, et al. Among authors: corominas j. iScience. 2023 Mar 17;26(3):106126. doi: 10.1016/j.isci.2023.106126. Epub 2023 Feb 2. iScience. 2023. PMID: 36748086 Free PMC article.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: corominas j. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
163 results