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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nat Commun. 2021 Apr 6;12(1):2076. doi: 10.1038/s41467-021-22262-5.
Nat Commun. 2021.
PMID: 33824317
Free PMC article.
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
Fairbrother-Browne A, Ali AT, Reynolds RH, Garcia-Ruiz S, Zhang D, Chen Z, Ryten M, Hodgkinson A.
Fairbrother-Browne A, et al.
Commun Biol. 2021 Nov 4;4(1):1262. doi: 10.1038/s42003-021-02792-w.
Commun Biol. 2021.
PMID: 34737414
Free PMC article.
Item in Clipboard
ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R.
Fairbrother-Browne A, García-Ruiz S, Hertfelder Reynolds R, Ryten M, Hodgkinson A.
Fairbrother-Browne A, et al.
GigaByte. 2023 Sep 14;2023:1-10. doi: 10.46471/gigabyte.91. eCollection 2023.
GigaByte. 2023.
PMID: 37732134
Free PMC article.
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aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3.
García-Ruiz S, Reynolds RH, Grant-Peters M, Gustavsson EK, Fairbrother-Browne A, Chen Z, Brenton JW, Ryten M.
García-Ruiz S, et al. Among authors: fairbrother browne a.
GigaByte. 2023 Aug 23;2023:gigabyte87. doi: 10.46471/gigabyte.87. eCollection 2023.
GigaByte. 2023.
PMID: 37637773
Free PMC article.
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Splicing accuracy varies across human introns, tissues and age.
García-Ruiz S, Zhang D, Gustavsson EK, Rocamora-Perez G, Grant-Peters M, Fairbrother-Browne A, Reynolds RH, Brenton JW, Gil-Martínez AL, Chen Z, Rio DC, Botia JA, Guelfi S, Collado-Torres L, Ryten M.
García-Ruiz S, et al. Among authors: fairbrother browne a.
bioRxiv [Preprint]. 2023 Mar 30:2023.03.29.534370. doi: 10.1101/2023.03.29.534370.
bioRxiv. 2023.
PMID: 37034741
Free PMC article.
Preprint.
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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: fairbrother browne a.
Brain. 2023 Jul 3;146(7):2869-2884. doi: 10.1093/brain/awad009.
Brain. 2023.
PMID: 36624280
Free PMC article.
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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. Among authors: fairbrother browne a.
Nucleic Acids Res. 2023 Jan 6;51(D1):D167-D178. doi: 10.1093/nar/gkac1056.
Nucleic Acids Res. 2023.
PMID: 36399497
Free PMC article.
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