Author

Jacqueline A. L. MacArthur

Observed names: Jacqueline A L MacArthur, Jacqueline A. Langdon, Jacqueline A.L. MacArthur, Jacqueline Ann Langdon MacArthur, Jacqueline A L MacArthur, Jacqueline MacArthur, Jacqueline A L MacArthur, Jaqueline A. L. MacArthur, MacArthur, Jacqueline, MacArthur, Jacqueline AL

Institutions: British Heart Foundation, Health Data Research UK

Observed institutions: National Institutes of Health, European Bioinformatics Institute, University of Leicester, University of California, San Francisco, Wellcome Sanger Institute, British Heart Foundation, National Human Genome Research Institute, National Center for Biotechnology Information, Health Data Research UK, UCSF Helen Diller Family Comprehensive Cancer Center, Newcastle University, Wellcome Trust

ORCID: 0000-0002-3550-9769

Observed ORCID: 0000-0002-3550-9769

OpenAlex ID: A5003927093

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

2018 · Annalisa Buniello, Jacqueline A L MacArthur, et al. · Nucleic Acids Research · 3,964

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

2013 · Danielle Welter, Jacqueline MacArthur, et al. · Nucleic Acids Research · 2,762

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

2016 · Jacqueline MacArthur, Emily Bowler, et al. · Nucleic Acids Research · 2,158

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

2022 · Elliot Sollis, Abayomi Mosaku, et al. · Nucleic Acids Research · 1,682

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

2021 · Samuel A. Lambert, Laurent Gil, et al. · Nature Genetics · 733

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

2020 · Maya Ghoussaini, Edward Mountjoy, et al. · Nucleic Acids Research · 604

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

2015 · Angharad M. Roberts, James S. Ware, et al. · Science Translational Medicine · 505

Improving reporting standards for polygenic scores in risk prediction studies

2021 · Hannah Wand, Samuel A. Lambert, et al. · Nature · 487

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

2018 · Joannella Morales, Danielle Welter, et al. · Genome biology · 225

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

2013 · Jacqueline A. L. MacArthur, Joannella Morales, et al. · Nucleic Acids Research · 74

The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age

2014 · Jacqueline A. L. MacArthur, Timothy D. Spector, et al. · PLoS Genetics · 50

Combined genome‐wide allelotyping and copy number analysis identify frequent genetic losses without copy number reduction in medulloblastoma

2005 · Jacqueline A. Langdon, Jayne M. Lamont, et al. · Genes Chromosomes and Cancer · 49

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

2018 · Kyubum Lee, Maria Livia Famiglietti, et al. · PLoS Computational Biology · 47

Workshop proceedings: GWAS summary statistics standards and sharing

2021 · Jacqueline A.L. MacArthur, Annalisa Buniello, et al. · Cell Genomics · 37

Sequencing-based genome-wide association studies reporting standards

2021 · Aoife McMahon, Elizabeth Lewis, et al. · Cell Genomics · 28

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

2013 · William S. Oetting, Peter N. Robinson, et al. · Human Mutation · 26

Evidence of Convergent Evolution in Humans and Macaques Supports an Adaptive Role for Copy Number Variation of the β-Defensin-2 Gene

2014 · Barbara Ottolini, Michael J. Hornsby, et al. · Genome Biology and Evolution · 24

Charting a Course for Smartphones and Wearables to Transform Population Health Research

2022 · William G Dixon, Sabine N van der Veer, et al. · Journal of Medical Internet Research · 14

New ways to use imaging data in cardiovascular research: survey of opinions on federated learning and synthetic data

2025 · Michelle C Williams, Jacqueline A L MacArthur, et al. · European Heart Journal - Imaging Methods and Practice · 10

Improving reporting standards for phenotyping algorithm in biomedical research: 5 fundamental dimensions

2024 · Wei-Qi Wei, Robb Rowley, et al. · Journal of the American Medical Informatics Association · 9

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

2017 · Joannella Morales, Emily H. Bowler, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 6

Measurement of quality of stroke care with national electronic health records: a prospective cohort study during and after the COVID-19 pandemic

2026 · James Farrell, John Nolan, et al. · BMJ Open · 1

User-focused development of the NHGRI-EBI Genome-Wide Association Studies Catalog

2019 · Elliot Sollis, Annalisa Buniello, et al. · 1

OPEN: A Community-Informed Metadata Framework for Interoperable Computable Phenotypes

2026 · Jacqueline Honerlaw, Jacqueline A L MacArthur, et al. · medRxiv

Measurement of quality of stroke care with national electronic health records: a prospective cohort study during and after the COVID-19 pandemic.

2026 · Farrell, James, Nolan, John, et al. · Apollo (University of Cambridge)

Works count: 31

Citation count: 13,500

H-index: 17

I10-index: 19