Aoife C McMahon
Overview
Explore the profile of Aoife C McMahon including associated specialties, affiliations and a list of published articles.
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9
Citations
1684
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0
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Recent Articles
1.
Costanzo M, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, et al.
Cell Metab
. 2023 Mar;
35(4):695-710.e6.
PMID: 36963395
Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The...
2.
Morales J, McMahon A, Loveland J, Perry E, Frankish A, Hunt S, et al.
Mol Genet Genomic Med
. 2021 Aug;
9(12):e1786.
PMID: 34435752
Background: Variant interpretation is dependent on transcript annotation and remains time consuming and challenging. There are major obstacles for historical data reuse and for interpretation of new variants. First, both...
3.
Howe K, Achuthan P, Allen J, Allen J, Alvarez-Jarreta J, Amode M, et al.
Nucleic Acids Res
. 2020 Nov;
49(D1):D884-D891.
PMID: 33137190
The Ensembl project (https://www.ensembl.org) annotates genomes and disseminates genomic data for vertebrate species. We create detailed and comprehensive annotation of gene structures, regulatory elements and variants, and enable comparative genomics...
4.
Cunningham F, Achuthan P, Akanni W, Allen J, Amode M, Armean I, et al.
Nucleic Acids Res
. 2018 Nov;
47(D1):D745-D751.
PMID: 30407521
The Ensembl project (https://www.ensembl.org) makes key genomic data sets available to the entire scientific community without restrictions. Ensembl seeks to be a fundamental resource driving scientific progress by creating, maintaining...
5.
Mignot C, McMahon A, Bar C, Campeau P, Davidson C, Buratti J, et al.
Genet Med
. 2018 Oct;
21(8):1897-1898.
PMID: 30279470
This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the...
6.
Mignot C, McMahon A, Bar C, Campeau P, Davidson C, Buratti J, et al.
Genet Med
. 2018 Sep;
21(4):837-849.
PMID: 30206421
Purpose: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. Methods: We collected the data of...
7.
Morales J, Welter D, Bowler E, Cerezo M, Harris L, McMahon A, et al.
Genome Biol
. 2018 Feb;
19(1):21.
PMID: 29448949
The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no...
8.
McMahon A, Rosbash M
Proc Natl Acad Sci U S A
. 2016 Jun;
113(26):7009-11.
PMID: 27317743
No abstract available.
9.
McMahon A, Rahman R, Jin H, Shen J, Fieldsend A, Luo W, et al.
Cell
. 2016 Apr;
165(3):742-53.
PMID: 27040499
RNA transcripts are bound and regulated by RNA-binding proteins (RBPs). Current methods for identifying in vivo targets of an RBP are imperfect and not amenable to examining small numbers of...