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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
25752019
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
19432017
Ensembl 2020
AD Yates, P Achuthan, W Akanni, J Allen, J Allen, J Alvarez-Jarreta, ...
Nucleic acids research 48 (D1), D682-D688, 2020
13262020
Ensembl 2021
KL Howe, P Achuthan, J Allen, J Allen, J Alvarez-Jarreta, MR Amode, ...
Nucleic acids research 49 (D1), D884-D891, 2021
8902021
Ensembl 2019
F Cunningham, P Achuthan, W Akanni, J Allen, MR Amode, IM Armean, ...
Nucleic acids research 47 (D1), D745-D751, 2019
8282019
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
1892012
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
1622021
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
1472016
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), 1-10, 2018
1422018
SynGAP isoforms exert opposing effects on synaptic strength
AC McMahon, MW Barnett, T O'leary, PN Stoney, MO Collins, S Papadia, ...
Nature communications 3 (1), 1-9, 2012
722012
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
512011
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
432019
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
352018
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
282022
Workshop proceedings: GWAS summary statistics standards and sharing
JAL MacArthur, A Buniello, LW Harris, J Hayhurst, A McMahon, E Sollis, ...
Cell Genomics 1 (1), 100004, 2021
112021
NonA and CPX Link the circadian clockwork to locomotor activity in Drosophila
W Luo, F Guo, A McMahon, S Couvertier, H Jin, M Diaz, A Fieldsend, ...
Neuron 99 (4), 768-780. e3, 2018
62018
Promiscuous or discriminating: Has the favored mRNA target of Fragile X Mental Retardation Protein been overlooked?
AC McMahon, M Rosbash
Proceedings of the National Academy of Sciences 113 (26), 7009-7011, 2016
62016
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), 100005, 2021
52021
The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements
J Morales, AC McMahon, J Loveland, E Perry, A Frankish, S Hunt, ...
Molecular genetics & genomic medicine 9 (12), e1786, 2021
32021
Mendelian randomization
E Birney
Cold Spring Harbor Perspectives in Medicine 12 (4), a041302, 2022
12022
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