| 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 | 4015 | 2019 |
| The NHGRI GWAS Catalog, a curated resource of SNP-trait associations PH Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A ... Nucleic Acids Res, 2014 | 3353 | 2014 |
| 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 | 2369 | 2017 |
| 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 | 873 | 2023 |
| Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ... Science translational medicine 7 (270), 270ra6-270ra6, 2015 | 494 | 2015 |
| 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 | 465 | 2021 |
| Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics M Ghoussaini, E Mountjoy, M Carmona, G Peat, EM Schmidt, A Hercules, ... Nucleic acids research 49 (D1), D1311-D1320, 2021 | 427 | 2021 |
| Improving reporting standards for polygenic scores in risk prediction studies H Wand, SA Lambert, C Tamburro, MA Iacocca, JW O’Sullivan, C Sillari, ... Nature 591 (7849), 211-219, 2021 | 378 | 2021 |
| 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 |
| A catalog of published genome-wide association studies. 2011 LA Hindorff, J MacArthur, J Morales, HA Junkins, PN Hall, AK Klemm, ... Ref Type: Generic, 2011 | 93 | 2011 |
| The NHGRI-EBI Catalog of published genome-wide association studies T Burdett, PN Hall, E Hastings, LA Hindorff, HA Junkins, AK Klemm, ... | 86 | 2016 |
| Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants JAL MacArthur, J Morales, RE Tully, A Astashyn, L Gil, EA Bruford, ... Nucleic acids research 42 (D1), D873-D878, 2014 | 83 | 2014 |
| 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 |
| MEG-SIM: a web portal for testing MEG analysis methods using realistic simulated and empirical data CJ Aine, L Sanfratello, D Ranken, E Best, JA MacArthur, T Wallace, ... Neuroinformatics 10, 141-158, 2012 | 34 | 2012 |
| Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A catalog of published genome-wide association studies LA Hindorff, J MacArthur Disponible sur: http://www. genome. gov/gwastudies/[Accédé le: April 9, 2013], 2012 | 34 | 2012 |
| Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project WS Oetting, PN Robinson, MS Greenblatt, RG Cotton, T Beck, JC Carey, ... Human mutation 34 (4), 661-666, 2013 | 33 | 2013 |
| Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene B Ottolini, MJ Hornsby, R Abujaber, JAL MacArthur, RM Badge, ... Genome biology and evolution 6 (11), 3025-3038, 2014 | 26 | 2014 |
| 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 |
| The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age JAL MacArthur, TD Spector, SJ Lindsay, M Mangino, R Gill, KS Small, ... PLoS genetics 10 (3), e1004195, 2014 | 24 | 2014 |
| 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 |
