McMahon, Aoife

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

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The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

MacArthur, J., Bowler, E., Cerezo, M., Gil, L., Hall, P., Hastings, E., Junkins, H., McMahon, A., Milano, A., Morales, J., et al. (2017) · Nucleic Acids Research

Genetic Associations and EpidemiologyResearch Data Management Practices

Cited by 2,161

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Güneş, O., Hall, P., Hayhurst, J., et al. (2023) · Nucleic Acids Research

Genetic Associations and EpidemiologyResearch Data Management Practices

Cited by 1,641

Ensembl 2019

Cunningham, F., Achuthan, P., Akanni, W., Allen, J., Amode, M. R., Armean, I. M., Bennett, R., Bhai, J., Billis, K., Boddu, S., et al. (2019) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 925

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Morales, J., Pujar, S., Loveland, J. E., Astashyn, A., Bennett, R., Berry, A., Cox, E., Davidson, C., Ermolaeva, O., Farrell, C. M., et al. (2022) · Nature

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

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Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Morales, J., Welter, D., Bowler, E. H., Cerezo, M., Harris, L. W., McMahon, A. C., Hall, P., Junkins, H. A., Milano, A., Hastings, E., et al. (2018) · Genome Biology

Race, Genetics, and SocietyGenetic Associations and Epidemiology

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SynGAP isoforms exert opposing effects on synaptic strength

McMahon, A. C., Barnett, M. W., O'Leary, T. S., Stoney, P. N., Collins, M. O., Papadia, S., Choudhary, J. S., Komiyama, N. H., Grant, S. G. N., Hardingham, G. E., et al. (2012) · Nature Communications

Neuroscience and Neuropharmacology ResearchRNA Research and Splicing

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Scaling up data curation using deep learning: An application to literature triage in genomic variation resources

Lee, K., Famiglietti, M. L., McMahon, A., Wei, C.-H., MacArthur, J. A. L., Poux, S., Breuza, L., Bridge, A., Cunningham, F., Xenarios, I., et al. (2018) · PLOS Computational Biology

Biomedical Text Mining and OntologiesInformation Retrieval and Search Behavior

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