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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J; International Parkinson’s Disease Genomics Consortium (IPDGC); Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M. Chen Z, et al. Nat Commun. 2021 Apr 6;12(1):2076. doi: 10.1038/s41467-021-22262-5. Nat Commun. 2021. PMID: 33824317 Free PMC article.
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
García-Ruiz S, Gil-Martínez AL, Cisterna A, Jurado-Ruiz F, Reynolds RH; NABEC (North America Brain Expression Consortium); Cookson MR, Hardy J, Ryten M, Botía JA. García-Ruiz S, et al. Front Genet. 2021 Feb 24;12:630187. doi: 10.3389/fgene.2021.630187. eCollection 2021. Front Genet. 2021. PMID: 33719340 Free PMC article.
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein.
Kara E, Crimi A, Wiedmer A, Emmenegger M, Manzoni C, Bandres-Ciga S, D'Sa K, Reynolds RH, Botía JA, Losa M, Lysenko V, Carta M, Heinzer D, Avar M, Chincisan A, Blauwendraat C, García-Ruiz S, Pease D, Mottier L, Carrella A, Beck-Schneider D, Magalhães AD, Aemisegger C, Theocharides APA, Fan Z, Marks JD, Hopp SC, Abramov AY, Lewis PA, Ryten M, Hardy J, Hyman BT, Aguzzi A. Kara E, et al. Cell Rep. 2021 Jun 8;35(10):109189. doi: 10.1016/j.celrep.2021.109189. Cell Rep. 2021. PMID: 34107263 Free PMC article.
IntroVerse: a comprehensive database of introns across human tissues.
García-Ruiz S, Gustavsson EK, Zhang D, Reynolds RH, Chen Z, Fairbrother-Browne A, Gil-Martínez AL, Botia JA, Collado-Torres L, Ryten M. García-Ruiz S, et al. Nucleic Acids Res. 2023 Jan 6;51(D1):D167-D178. doi: 10.1093/nar/gkac1056. Nucleic Acids Res. 2023. PMID: 36399497 Free PMC article.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L, García AC, Sethi S, Brenton JW, García-Ruiz S, Fairbrother-Browne A, Gil-Martinez AL; Genomics England Research Consortium; Wood N, Hardy JA, Smedley D, Houlden H, Botía J, Ryten M. Chen Z, et al. Among authors: garcia ruiz s. Brain. 2023 Jul 3;146(7):2869-2884. doi: 10.1093/brain/awad009. Brain. 2023. PMID: 36624280 Free PMC article.
33 results