Found: 4

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  • Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2869, doi. 10.1093/brain/awad009
    By:
    • Chen, Zhongbo;
    • Tucci, Arianna;
    • Cipriani, Valentina;
    • Gustavsson, Emil K;
    • Ibañez, Kristina;
    • Reynolds, Regina H;
    • Zhang, David;
    • Vestito, Letizia;
    • García, Alejandro Cisterna;
    • Sethi, Siddharth;
    • Brenton, Jonathan W;
    • García-Ruiz, Sonia;
    • Fairbrother-Browne, Aine;
    • Gil-Martinez, Ana-Luisa;
    • Consortium, Genomics England Research;
    • Wood, Nick;
    • Hardy, John A;
    • Smedley, Damian;
    • Houlden, Henry;
    • Botía, Juan
    Publication type:
    Article

  • Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02792-w
    By:
    • Fairbrother-Browne, Aine;
    • Ali, Aminah T.;
    • Reynolds, Regina H.;
    • Garcia-Ruiz, Sonia;
    • Zhang, David;
    • Chen, Zhongbo;
    • Ryten, Mina;
    • Hodgkinson, Alan
    Publication type:
    Article

  • Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22262-5
    By:
    • Chen, Zhongbo;
    • Zhang, David;
    • Reynolds, Regina H.;
    • Gustavsson, Emil K.;
    • García-Ruiz, Sonia;
    • D'Sa, Karishma;
    • Fairbrother-Browne, Aine;
    • Vandrovcova, Jana;
    • International Parkinson's Disease Genomics Consortium (IPDGC);
    • Noyce, Alastair J.;
    • Kaiyrzhanov, Rauan;
    • Middlehurst, Ben;
    • Kia, Demis A.;
    • Tan, Manuela;
    • Morris, Huw R.;
    • Plun-Favreau, Helene;
    • Holmans, Peter;
    • Trabzuni, Daniah;
    • Bras, Jose;
    • Quinn, John
    Publication type:
    Article

  • IntroVerse: a comprehensive database of introns across human tissues.

    Published in:
    Nucleic Acids Research, 2023, v. 51, n. D1, p. D167, doi. 10.1093/nar/gkac1056
    By:
    • García-Ruiz, Sonia;
    • Gustavsson, Emil K;
    • Zhang, David;
    • Reynolds, Regina H;
    • Chen, Zhongbo;
    • Fairbrother-Browne, Aine;
    • Gil-Martínez, Ana Luisa;
    • Botia, Juan A;
    • Collado-Torres, Leonardo;
    • Ryten, Mina
    Publication type:
    Article