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H. Parkinson · SciRah

Researcher profile · Semantic Scholar

H. Parkinson

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H. Parkinson — researcher profile on SciRah

h-index: 63
Works: 219
Citations: 31K

Most-cited papers

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
A. Buniello, Jacqueline A. L. MacArthur, M. Cerezo, Laura W. Harris +20 more
2018Nucleic Acids Res.3,616 citations Open access
Semantic Scholar
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
Jacqueline A. L. MacArthur, Emily Bowler, M. Cerezo, Laurent Gil +13 more
2016Nucleic Acids Res.2,083 citations Open access
Semantic Scholar
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
E. Sollis, Abayomi Mosaku, A. Abid, A. Buniello +26 more
2022Nucleic Acids Res.1,403 citations Open access
Semantic Scholar
High-throughput discovery of novel developmental phenotypes
M. Dickinson, A. Flenniken, Xiao Ji, L. Teboul +80 more
2016Nature1,115 citations Open access
Semantic Scholar
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics
M. Ghoussaini, E. Mountjoy, M. Carmona, Gareth Peat +31 more
2020Nucleic Acids Res.556 citations Open access
Semantic Scholar
Open Targets: a platform for therapeutic target identification and validation
Gautier Koscielny, Peter An, D. Carvalho-Silva, Jennifer A. Cham +52 more
2016Nucleic Acids Res.471 citations Open access
Semantic Scholar
The Ontology for Biomedical Investigations
A. Bandrowski, R. Brinkman, M. Brochhausen, M. Brush +40 more
2016PLoS ONE385 citations Open access
Semantic Scholar
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N. Kerimov, J. Hayhurst, Kateryna Peikova, J. Manning +13 more
2021Nature Genetics344 citations Open access
Semantic Scholar
The Polygenic Score Catalog: an open database for reproducibility and systematic evaluation
Samuel A. Lambert, Laurent Gil, S. Jupp, S. Ritchie +8 more
2020medRxiv322 citations Open access
Semantic Scholar
GA4GH: International policies and standards for data sharing across genomic research and healthcare
H. Rehm, A. Page, Lindsay D. Smith, Jeremy B. Adams +198 more
2021Cell Genomics306 citations Open access
Semantic Scholar
Prevalence of sexual dimorphism in mammalian phenotypic traits
N. Karp, Jeremy C. Mason, A. Beaudet, Y. Benjamini +39 more
2017Nature Communications243 citations Open access
Semantic Scholar
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
Joannella Morales, Danielle Welter, Emily Bowler, M. Cerezo +14 more
2018Genome Biology210 citations Open access
Semantic Scholar
Tools and data services registry: a community effort to document bioinformatics resources
J. Ison, Kristoffer Rapacki, H. Ménager, M. Kalaš +65 more
2015Nucleic Acids Res.156 citations Open access
Semantic Scholar
Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data
J. McMurry, N. Juty, N. Blomberg, Tony Burdett +40 more
2017bioRxiv145 citations Open access
Semantic Scholar
LifeTime and improving European healthcare through cell-based interceptive medicine
N. Rajewsky, G. Almouzni, Stanislaw A. Gorski, S. Aerts +47 more
2020Nature142 citations Open access
Semantic Scholar
REMBI: Recommended Metadata for Biological Images—enabling reuse of microscopy data in biology
Ugis Sarkans, Wah Chiu, L. Collinson, M. Darrow +42 more
2021Nature Methods115 citations Open access
Semantic Scholar
PDX-MI: Minimal Information for Patient-Derived Tumor Xenograft Models
T. Meehan, N. Conte, T. Goldstein, G. Inghirami +50 more
2017Cancer Research115 citations Open access
Semantic Scholar
The European Genome-phenome Archive in 2021
M. Freeberg, Lauren A. Fromont, T. d’Altri, Anna Foix Romero +31 more
2021Nucleic Acids Res.113 citations Open access
Semantic Scholar
The European Variation Archive: a FAIR resource of genomic variation for all species
Tim Cezard, F. Cunningham, S. Hunt, Baron Koylass +9 more
2021Nucleic Acids Res.112 citations Open access
Semantic Scholar
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation
V. Muñoz-Fuentes, Pilar Cacheiro, T. Meehan, J. A. Aguilar-Pimentel +20 more
2018Conservation Genetics103 citations Open access
Semantic Scholar
The human-induced pluripotent stem cell initiative—data resources for cellular genetics
Ian Streeter, Peter W. Harrison, Adam Faulconbridge, HipSci Consortium +3 more
2016Nucleic Acids Res.94 citations Open access
Semantic Scholar
Applying the ARRIVE Guidelines to an In Vivo Database
N. Karp, T. Meehan, Hugh Morgan, Jeremy C. Mason +26 more
2015PLoS Biology92 citations Open access
Semantic Scholar
Human and mouse essentiality screens as a resource for disease gene discovery
Pilar Cacheiro, V. Muñoz-Fuentes, S. Murray, M. Dickinson +41 more
2020Nature Communications90 citations Open access
Semantic Scholar
European infrastructures to access one million human genomes by 2022
Gary Saunders, M. Baudis, Regina Becker, S. Beltran +37 more
2019Nature reviews genetics89 citations Open access
Semantic Scholar
PDX Finder: A portal for patient-derived tumor xenograft model discovery
N. Conte, Jeremy C. Mason, Csaba Halmagyi, Steven B. Neuhauser +8 more
2018bioRxiv89 citations Open access
Semantic Scholar
Identification of genetic elements in metabolism by high-throughput mouse phenotyping
J. Rozman, B. Rathkolb, Manuela A. Oestereicher, C. Schütt +262 more
2018Nature Communications69 citations Open access
Semantic Scholar
The Data Use Ontology to streamline responsible access to human biomedical datasets
Jonathan Lawson, M. Cabili, G. Kerry, Tiffany F. Boughtwood +53 more
2021Cell Genomics64 citations Open access
Semantic Scholar
eQTL Catalogue: a compendium of uniformly processed human gene expression and splicing QTLs
N. Kerimov, J. Hayhurst, Kateryna Peikova, J. Manning +13 more
2020bioRxiv64 citations Open access
Semantic Scholar
BioSamples database: an updated sample metadata hub
Mélanie Courtot, L. Cherubin, Adam Faulconbridge, Daniel Vaughan +6 more
2018Nucleic Acids Res.56 citations Open access
Semantic Scholar
A Standard Nomenclature for Referencing and Authentication of Pluripotent Stem Cells
A. Kurtz, Stefanie Seltmann, A. Bairoch, M. Bittner +28 more
2018Stem Cell Reports44 citations Open access
Semantic Scholar
Identification of Cancer Related Genes Using a Comprehensive Map of Human Gene Expression
Aurora Torrente, M. Lukk, Vincent Xue, H. Parkinson +2 more
2016PLoS ONE43 citations Open access
Semantic Scholar
Identification of genes required for eye development by high-throughput screening of mouse knockouts
B. Moore, B. Leonard, L. Sebbag, Sydney G. Edwards +65 more
2018Communications Biology40 citations Open access
Semantic Scholar
Ten Simple Rules for Selecting a Bio-ontology
J. Malone, Robert Stevens, S. Jupp, Tom Hancocks +2 more
2016PLoS Comput. Biol.39 citations Open access
Semantic Scholar
Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation
Sirarat Sarntivijai, Drashtti Vasant, S. Jupp, Gary Saunders +8 more
2016Journal of Biomedical Semantics38 citations Open access
Semantic Scholar
Building bridges between cellular and molecular structural biology
A. Patwardhan, Robert Brandt, S. Butcher, L. Collinson +23 more
2017eLife37 citations Open access
Semantic Scholar
The Deep Genome Project
K. C. Kent Lloyd, D. Adams, Gareth Baynam, A. Beaudet +40 more
2020Genome Biology35 citations Open access
Semantic Scholar
The cellular microscopy phenotype ontology
S. Jupp, J. Malone, Tony Burdett, J. Hériché +4 more
2016Journal of Biomedical Semantics33 citations Open access
Semantic Scholar
Desiderata for the development of next-generation electronic health record phenotype libraries
Martin Chapman, Shahzad Mumtaz, Luke V. Rasmussen, Andreas Karwath +9 more
2021GigaScience28 citations Open access
Semantic Scholar
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
A. Swan, C. Schütt, J. Rozman, Maria del Mar Muñiz Moreno +60 more
2020PLoS Genetics28 citations Open access
Semantic Scholar
Harmonising phenomics information for a better interoperability in the rare disease field.
S. Maiella, A. Olry, M. Hanauer, V. Lanneau +11 more
2018European Journal of Medical Genetics27 citations Open access
Semantic Scholar
The EurOPDX Data Portal: an open platform for patient-derived cancer xenograft data sharing and visualization
Zdenka Dudová, N. Conte, Jeremy C. Mason, Dalibor Stuchlík +23 more
2022BMC Genomics22 citations Open access
Semantic Scholar
High-throughput discovery of genetic determinants of circadian misalignment
Tao Zhang, Pan-Cheng Xie, Yingying Dong, Zhi-Wei Liu +33 more
2020PLoS Genetics21 citations Open access
Semantic Scholar
A community driven GWAS summary statistics standard
J. Hayhurst, A. Buniello, Laura W. Harris, Abayomi Mosaku +19 more
2023bioRxiv20 citations Open access
Semantic Scholar
OpenStats: A robust and scalable software package for reproducible analysis of high-throughput phenotypic data
Hamed Haselimashhadi, Jeremy C. Mason, A. Mallon, D. Smedley +2 more
2020bioRxiv20 citations Open access
Semantic Scholar
Gene Ontology Curation of Neuroinflammation Biology Improves the Interpretation of Alzheimer’s Disease Gene Expression Data
B. Kramarz, R. Huntley, M. Rodríguez-López, P. Roncaglia +8 more
2020Journal of Alzheimer's Disease20 citations Open access
Semantic Scholar
Improving the Gene Ontology Resource to Facilitate More Informative Analysis and Interpretation of Alzheimer’s Disease Data
B. Kramarz, P. Roncaglia, B. Meldal, R. Huntley +7 more
2018Genes19 citations Open access
Semantic Scholar
OxO - A Gravy of Ontology Mapping Extracts
S. Jupp, T. Liener, Sirarat Sarntivijai, Olga Vrousgou +2 more
2017International Conference on Biomedical Ontology19 citations
Semantic Scholar
PhenoImageShare: an image annotation and query infrastructure
Solomon Adebayo, Kenneth McLeod, Ilinca Tudose, David Osumi-Sutherland +4 more
2016Journal of Biomedical Semantics17 citations Open access
Semantic Scholar
Sequencing-based genome-wide association studies reporting standards
A. McMahon, Elizabeth Lewis, A. Buniello, M. Cerezo +6 more
2021Cell Genomics15 citations Open access
Semantic Scholar
Webulous and the Webulous Google Add-On - a web service and application for ontology building from templates
S. Jupp, Tony Burdett, Danielle Welter, Sirarat Sarntivijai +2 more
2016Journal of Biomedical Semantics13 citations Open access
Semantic Scholar

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