| The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 A Buniello, JAL MacArthur, M Cerezo, LW Harris, J Hayhurst, ... Nucleic acids research 47 (D1), D1005-D1012, 2019 | 4026 | 2019 |
| The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) J MacArthur, E Bowler, M Cerezo, L Gil, P Hall, E Hastings, H Junkins, ... Nucleic acids research 45 (D1), D896-D901, 2017 | 2374 | 2017 |
| Ensembl 2020 AD Yates, P Achuthan, W Akanni, J Allen, J Allen, J Alvarez-Jarreta, ... Nucleic acids research 48 (D1), D682-D688, 2020 | 1857 | 2020 |
| Ensembl 2021 KL Howe, P Achuthan, J Allen, J Allen, J Alvarez-Jarreta, MR Amode, ... Nucleic acids research 49 (D1), D884-D891, 2021 | 1649 | 2021 |
| Ensembl 2019 F Cunningham, P Achuthan, W Akanni, J Allen, MR Amode, IM Armean, ... Nucleic acids research 47 (D1), D745-D751, 2019 | 1010 | 2019 |
| The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource E Sollis, A Mosaku, A Abid, A Buniello, M Cerezo, L Gil, T Groza, O Güneş, ... Nucleic acids research 51 (D1), D977-D985, 2023 | 879 | 2023 |
| Mendelian randomization E Birney Cold Spring Harbor perspectives in medicine 12 (4), a041302, 2022 | 498 | 2022 |
| The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation SA Lambert, L Gil, S Jupp, SC Ritchie, Y Xu, A Buniello, A McMahon, ... Nature Genetics 53 (4), 420-425, 2021 | 466 | 2021 |
| A joint NCBI and EMBL-EBI transcript set for clinical genomics and research J Morales, S Pujar, JE Loveland, A Astashyn, R Bennett, A Berry, E Cox, ... Nature 604 (7905), 310-315, 2022 | 289 | 2022 |
| A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog J Morales, D Welter, EH Bowler, M Cerezo, LW Harris, AC McMahon, ... Genome biology 19, 1-10, 2018 | 236 | 2018 |
| TRIBE: hijacking an RNA-editing enzyme to identify cell-specific targets of RNA-binding proteins AC McMahon, R Rahman, H Jin, JL Shen, A Fieldsend, W Luo, ... Cell 165 (3), 742-753, 2016 | 229 | 2016 |
| The subtype of GluN2 C-terminal domain determines the response to excitotoxic insults MA Martel, TJ Ryan, KFS Bell, JH Fowler, A McMahon, B Al-Mubarak, ... Neuron 74 (3), 543-556, 2012 | 216 | 2012 |
| SynGAP isoforms exert opposing effects on synaptic strength AC McMahon, MW Barnett, TS O'leary, PN Stoney, MO Collins, S Papadia, ... Nature communications 3 (1), 900, 2012 | 90 | 2012 |
| The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits MC Costanzo, M von Grotthuss, J Massung, D Jang, L Caulkins, ... Cell metabolism 35 (4), 695-710. e6, 2023 | 64 | 2023 |
| IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ... Genetics in Medicine 21 (4), 837-849, 2019 | 62 | 2019 |
| Pituitary adenylate cyclase‐activating peptide induces long‐lasting neuroprotection through the induction of activity‐dependent signaling via the cyclic AMP response element … PS Baxter, MA Martel, A McMahon, PC Kind, GE Hardingham Journal of neurochemistry 118 (3), 365-378, 2011 | 56 | 2011 |
| Scaling up data curation using deep learning: an application to literature triage in genomic variation resources K Lee, ML Famiglietti, A McMahon, CH Wei, JAL MacArthur, S Poux, ... PLoS computational biology 14 (8), e1006390, 2018 | 49 | 2018 |
| Workshop proceedings: GWAS summary statistics standards and sharing JAL MacArthur, A Buniello, LW Harris, J Hayhurst, A McMahon, E Sollis, ... Cell Genomics 1 (1), 2021 | 24 | 2021 |
| Sequencing-based genome-wide association studies reporting standards A McMahon, E Lewis, A Buniello, M Cerezo, P Hall, E Sollis, H Parkinson, ... Cell Genomics 1 (1), 2021 | 18 | 2021 |
| A community driven GWAS summary statistics standard J Hayhurst, A Buniello, L Harris, A Mosaku, C Chang, CR Gignoux, ... bioRxiv, 2022.07. 15.500230, 2022 | 14 | 2022 |
