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Aoife McMahon
Aoife McMahon
Verified email at ebi.ac.uk
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Year
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
37522019
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
22832017
Ensembl 2020
AD Yates, P Achuthan, W Akanni, J Allen, J Allen, J Alvarez-Jarreta, ...
Nucleic acids research 48 (D1), D682-D688, 2020
17722020
Ensembl 2021
KL Howe, P Achuthan, J Allen, J Allen, J Alvarez-Jarreta, MR Amode, ...
Nucleic acids research 49 (D1), D884-D891, 2021
15192021
Ensembl 2019
F Cunningham, P Achuthan, W Akanni, J Allen, MR Amode, IM Armean, ...
Nucleic acids research 47 (D1), D745-D751, 2019
9852019
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
E Sollis, A Mosaku, A Abid, A Buniello, M Cerezo, L Gil, T Groza, O GŁneş, ...
Nucleic acids research 51 (D1), D977-D985, 2023
5192023
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
3862021
Mendelian randomization
E Birney
Cold Spring Harbor perspectives in medicine, a041302, 2021
2762021
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
2172018
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
2132016
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
2102012
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
2022022
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
822012
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
592019
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
552011
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
452023
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
432018
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
212021
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
172021
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
102022
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