Helen Parkinson
Overview
Explore the profile of Helen Parkinson including associated specialties, affiliations and a list of published articles.
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141
Citations
12261
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Recent Articles
11.
Lambert S, Wingfield B, Gibson J, Gil L, Ramachandran S, Yvon F, et al.
Nat Genet
. 2024 Sep;
56(10):1989-1994.
PMID: 39327485
No abstract available.
12.
Spielmann N, Miller G, Oprea T, Hsu C, Fobo G, Frishman G, et al.
Nat Cardiovasc Res
. 2024 Aug;
1(2):157-173.
PMID: 39195995
Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electrocardiography, transthoracic echocardiography...
13.
Thayer D, Mumtaz S, Elmessary M, Scanlon I, Zinnurov A, Coldea A, et al.
JAMIA Open
. 2024 Jun;
7(2):ooae049.
PMID: 38895652
Objective: To enable reproducible research at scale by creating a platform that enables health data users to find, access, curate, and re-use electronic health record phenotyping algorithms. Materials And Methods:...
14.
Cacheiro P, Pava D, Parkinson H, VanZanten M, Wilson R, Gunes O, et al.
Dis Model Mech
. 2024 Jun;
17(6).
PMID: 38881316
The use of standardised phenotyping screens to identify abnormal phenotypes in mouse knockouts, together with the use of ontologies to describe such phenotypic features, allows the implementation of an automated...
15.
Lambert S, Wingfield B, Gibson J, Gil L, Ramachandran S, Yvon F, et al.
medRxiv
. 2024 Jun;
PMID: 38853961
Polygenic scores (PGS) have transformed human genetic research and have multiple potential clinical applications, including risk stratification for disease prevention and prediction of treatment response. Here, we present a series...
16.
Foreman A, Warth B, Hessel E, Price E, Schymanski E, Cantelli G, et al.
Environ Sci Technol
. 2024 Apr;
58(17):7256-7269.
PMID: 38641325
Through investigating the combined impact of the environmental exposures experienced by an individual throughout their lifetime, exposome research provides opportunities to understand and mitigate negative health outcomes. While current exposome...
17.
Xiang R, Kelemen M, Xu Y, Harris L, Parkinson H, Inouye M, et al.
Genome Med
. 2024 Feb;
16(1):33.
PMID: 38373998
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic predisposition to disease, and many potentially clinically useful applications have been proposed. Here, we review the latest...
18.
David R, Rybina A, Burel J, Heriche J, Audergon P, Boiten J, et al.
EMBO J
. 2023 Nov;
42(23):e115008.
PMID: 37964598
The main goals and challenges for the life science communities in the Open Science framework are to increase reuse and sustainability of data resources, software tools, and workflows, especially in...
19.
Kerimov N, Tambets R, Hayhurst J, Rahu I, Kolberg P, Raudvere U, et al.
PLoS Genet
. 2023 Sep;
19(9):e1010932.
PMID: 37721944
The eQTL Catalogue is an open database of uniformly processed human molecular quantitative trait loci (QTLs). We are continuously updating the resource to further increase its utility for interpreting genetic...
20.
Xu F, Juty N, Goble C, Jupp S, Parkinson H, Courtot M
J Biomed Semantics
. 2023 Jun;
14(1):6.
PMID: 37264430
Background: The Findable, Accessible, Interoperable and Reusable(FAIR) Principles explicitly require the use of FAIR vocabularies, but what precisely constitutes a FAIR vocabulary remains unclear. Being able to define FAIR vocabularies,...