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Author Details

Jacqueline A L MacArthur
2003
18
14
PMIDPaper TitleJournal TitlePublished Year
36350656The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.Nucleic Acids Res2023
34870259Sequencing-based genome-wide association studies reporting standards.Cell Genom2021
36082306Workshop proceedings: GWAS summary statistics standards and sharing.Cell Genom2021
33045747Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics.Nucleic Acids Res2021
30445434The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.Nucleic Acids Res2019
29448949A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.Genome Biol2018
30102703Scaling up data curation using deep learning: An application to literature triage in genomic variation resources.PLoS Comput Biol2018
27899670The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).Nucleic Acids Res2017
25589632Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Sci Transl Med2015
24603440The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.PLoS Genet2014
25349268Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene.Genome Biology and Evolution2014
24316577The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.Nucleic Acids Res2014
24285302Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.Nucleic Acids Res2014
23401191Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.Hum Mutat2013
16434186Mutational analysis of PDGFR-RAS/MAPK pathway activation in childhood medulloblastoma.Eur J Cancer2006
16149064Combined genome-wide allelotyping and copy number analysis identify frequent genetic losses without copy number reduction in medulloblastoma.Genes Chromosomes Cancer2006
17172831Wnt/Wingless pathway activation and chromosome 6 loss characterize a distinct molecular sub-group of medulloblastomas associated with a favorable prognosis.Cell Cycle2006
12668612Evolution and population genetics of the H-ras minisatellite and cancer predisposition.Human Molecular Genetics2003
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