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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.
Published in:
Nucleic Acids Research, 2019, v. 47, n. D1, p. D1005, doi. 10.1093/nar/gky1120
By:
- Buniello, Annalisa;
- MacArthur, Jacqueline A L;
- Cerezo, Maria;
- Harris, Laura W;
- Hayhurst, James;
- Malangone, Cinzia;
- McMahon, Aoife;
- Morales, Joannella;
- Mountjoy, Edward;
- Sollis, Elliot;
- Suveges, Daniel;
- Vrousgou, Olga;
- Whetzel, Patricia L;
- Amode, Ridwan;
- Guillen, Jose A;
- Riat, Harpreet S;
- Trevanion, Stephen J;
- Hall, Peggy;
- Junkins, Heather;
- Flicek, Paul
Publication type:
Article
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
Published in:
Nucleic Acids Research, 2014, v. 42, n. D1, p. D873, doi. 10.1093/nar/gkt1198
By:
- MacArthur, Jacqueline A. L.;
- Morales, Joannella;
- Tully, Ray E.;
- Astashyn, Alex;
- Gil, Laurent;
- Bruford, Elspeth A.;
- Larsson, Pontus;
- Flicek, Paul;
- Dalgleish, Raymond;
- Maglott, Donna R.;
- Cunningham, Fiona
Publication type:
Article
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Published in:
Science Translational Medicine, 2015, v. 7, n. 270, p. 1, doi. 10.1126/scitranslmed.3010134
By:
- Roberts, Angharad M.;
- Ware, James S.;
- Herman, Daniel S.;
- Schafer, Sebastian;
- Baksi, John;
- Bick, Alexander G.;
- Buchan, Rachel J.;
- Walsh, Roddy;
- John, Shibu;
- Wilkinson, Samuel;
- Mazzarotto, Francesco;
- Felkin, Leanne E.;
- Gong, Sungsam;
- MacArthur, Jacqueline A. L.;
- Cunningham, Fiona;
- Flannick, Jason;
- Gabriel, Stacey B.;
- Altshuler, David M.;
- Macdonald, Peter S.;
- Heinig, Matthias
Publication type:
Article
Evidence of Convergent Evolution in Humans and Macaques Supports an Adaptive Role for Copy Number Variation of the β-Defensin-2 Gene.
Published in:
Genome Biology & Evolution, 2014, v. 6, n. 11, p. 3025, doi. 10.1093/gbe/evu236
By:
- Ottolini, Barbara;
- Hornsby, Michael J.;
- Abujaber, Razan;
- MacArthur, Jacqueline A. L.;
- Badge, Richard M.;
- Schwarzacher, Trude;
- Albertson, Donna G.;
- Bevins, Charles L.;
- Solnick, Jay V.;
- Hollox, Edward J.
Publication type:
Article
NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.
Published in:
Nucleic Acids Research, 2023, v. 51, n. D1, p. D977, doi. 10.1093/nar/gkac1010
By:
- Sollis, Elliot;
- Mosaku, Abayomi;
- Abid, Ala;
- Buniello, Annalisa;
- Cerezo, Maria;
- Gil, Laurent;
- Groza, Tudor;
- Güneş, Osman;
- Hall, Peggy;
- Hayhurst, James;
- Ibrahim, Arwa;
- Ji, Yue;
- John, Sajo;
- Lewis, Elizabeth;
- MacArthur, Jacqueline A L;
- McMahon, Aoife;
- Osumi-Sutherland, David;
- Panoutsopoulou, Kalliope;
- Pendlington, Zoë;
- Ramachandran, Santhi
Publication type:
Article
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.
Published in:
Genome Biology, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s13059-018-1396-2
By:
- Morales, Joannella;
- Welter, Danielle;
- Bowler, Emily H.;
- Cerezo, Maria;
- Harris, Laura W.;
- McMahon, Aoife C.;
- Hall, Peggy;
- Junkins, Heather A.;
- Milano, Annalisa;
- Hastings, Emma;
- Malangone, Cinzia;
- Buniello, Annalisa;
- Burdett, Tony;
- Flicek, Paul;
- Parkinson, Helen;
- Cunningham, Fiona;
- Hindorff, Lucia A.;
- MacArthur, Jacqueline A. L.
Publication type:
Article
The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age.
Published in:
PLoS Genetics, 2014, v. 10, n. 3, p. 1, doi. 10.1371/journal.pgen.1004195
By:
- MacArthur, Jacqueline A. L.;
- Spector, Timothy D.;
- Lindsay, Sarah J.;
- Mangino, Massimo;
- Gill, Raj;
- Small, Kerrin S.;
- Hurles, Matthew E.
Publication type:
Article
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 661, doi. 10.1002/humu.22293
By:
- Oetting, William S.;
- Robinson, Peter N.;
- Greenblatt, Marc S.;
- Cotton, Richard G.;
- Beck, Tim;
- Carey, John C.;
- Doelken, Sandra C.;
- Girdea, Marta;
- Groza, Tudor;
- Hamilton, Carol M.;
- Hamosh, Ada;
- Kerner, Berit;
- MacArthur, Jacqueline A. L.;
- Maglott, Donna R.;
- Mons, Barend;
- Rehm, Heidi L.;
- Schofield, Paul N.;
- Searle, Beverly A.;
- Smedley, Damian;
- Smith, Cynthia L.
Publication type:
Article

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