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Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
Lopez Soriano V, Dueñas Rey A, Mukherjee R; Genomics England Research Consortium; Coppieters F, Bauwens M, Willaert A, De Baere E. Lopez Soriano V, et al. Among authors: duenas rey a. Nat Commun. 2024 May 10;15(1):3935. doi: 10.1038/s41467-024-48497-6. Nat Commun. 2024. PMID: 38729949 Free PMC article. No abstract available.
Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration.
Belfiori LF, Dueñas Rey A, Ralbovszki DM, Jimenez-Ferrer I, Fredlund F, Balikai SS, Ahrén D, Brolin KA, Swanberg M. Belfiori LF, et al. Among authors: duenas rey a. Front Aging Neurosci. 2024 Feb 5;16:1337365. doi: 10.3389/fnagi.2024.1337365. eCollection 2024. Front Aging Neurosci. 2024. PMID: 38374883 Free PMC article.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
The MHC class II transactivator modulates seeded alpha-synuclein pathology and dopaminergic neurodegeneration in an in vivo rat model of Parkinson's disease.
Jimenez-Ferrer I, Bäckström F, Dueñas-Rey A, Jewett M, Boza-Serrano A, Luk KC, Deierborg T, Swanberg M. Jimenez-Ferrer I, et al. Among authors: duenas rey a. Brain Behav Immun. 2021 Jan;91:369-382. doi: 10.1016/j.bbi.2020.10.017. Epub 2020 Oct 22. Brain Behav Immun. 2021. PMID: 33223048 Free article.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I. Mechaussier S, et al. Among authors: duenas rey a. Am J Hum Genet. 2020 Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28. Am J Hum Genet. 2020. PMID: 32470375 Free PMC article.