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Author Details

Damian Smedley
William Harvey Research Institute, Queen Mary University of London
1996
132
47
PMIDPaper TitleJournal TitlePublished Year
38000386The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.Nucleic Acids Res2024
36305825The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic Acids Res2023
37808344<i>CYP2C19</i> Genotype Prevalence and Association With Recurrent Myocardial Infarction in British-South Asians Treated With Clopidogrel.JACC Adv2023
37650884Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.Genet Med2023
37810217Factor V Leiden, estrogen, and multimorbidity association with venous thromboembolism in a British-South Asian cohort.iScience2023
37221222SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort.Pharmacogenomics J2023
37143396CYP2C19 loss-of-function alleles are not associated with higher prevalence of gastrointestinal bleeds in those who have been prescribed antidepressants: Analysis in a British-South Asian cohort.Br J Clin Pharmacol2023
37076585The Ontology of Biological Attributes (OBA)-computational traits for the life sciences.Mamm Genome2023
37403762Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.Genet Med2023
37364051A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.Hum Mol Genet2023
36747660The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences.bioRxiv2023
36897351Essential genes: a cross-species perspective.Mamm Genome2023
36825469Knockout mice are an important tool for human monogenic heart disease studies.Dis Model Mech2023
34654017Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.Clin Dysmorphol2022
35584218A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.Sci Adv2022
35442193The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.Genet Med2022
35391505Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Hum Mutat2022
35595299Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Brief Bioinform2022
35484572SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.Genome Med2022
35552317Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen.Pain2022
35872606Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.Am J Med Genet C Semin Med Genet2022
35934592Phenotype-aware prioritisation of rare Mendelian disease variants.Trends Genet2022
35051410Primary ciliary dyskinesia: a big data genomics approach.Lancet Respir Med2022
34788791PheneBank: a literature-based database of phenotypes.Bioinformatics2022
34289339Interpretable prioritization of splice variants in diagnostic next-generation sequencing.Am J Hum Genet2021
33909992Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.Am J Hum Genet2021
34870209Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function.Bioinform Adv2021
34379637Diffusion enables integration of heterogeneous data and user-driven learning in a desktop knowledge-base.PLoS Comput Biol2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34739835Interpretable prioritization of splice variants in diagnostic next-generation sequencing.Am J Hum Genet2021
34211179Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nat Genet2021
31591642Soft windowing application to improve analysis of high-throughput phenotyping data.Bioinformatics2020
31929527High-throughput discovery of genetic determinants of circadian misalignment.PLoS Genet2020
31986132Incremental data integration for tracking genotype-disease associations.PLoS Comput Biol2020
33378393OpenStats: A robust and scalable software package for reproducible analysis of high-throughput phenotypic data.PLoS One2020
32934340Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.Eur J Hum Genet2020
32755546Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.Am J Hum Genet2020
32340307An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.Genes (Basel)2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
31479590Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.Curr Protoc Hum Genet2019
30854487Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.Commun Biol2019
29626206High-throughput mouse phenomics for characterizing mammalian gene function.Nat Rev Genet2018
30240502matchbox: An open-source tool for patient matching via the Matchmaker Exchange.Hum Mutat2018
30100824The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.Conserv Genet2018
29691228The 100â¿¿000 Genomes Project: bringing whole genome sequencing to the NHS.BMJ2018
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
29026089A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.Nat Commun2017
28650954Prevalence of sexual dimorphism in mammalian phenotypic traits.Nat Commun2017
28650483Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.Nat Genet2017
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Collaborators

William Harvey Research Institute, Queen Mary University of London
Co-authored papers 36
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 29
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William Harvey Research Institute, Queen Mary University of London
Co-authored papers 24
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 24
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
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The Turing Institute
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University of Cambridge
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Lawrence Berkeley National Laboratory
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European Bioinformatics Institute
Co-authored papers 14
Renaissance Computing Institute, University of North Carolina
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European Molecular Biology Laboratory - European Bioinformatics Institute
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European Bioinformatics Institute
Co-authored papers 13
Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.
Co-authored papers 13
University of Colorado - Anschutz Medical Campus
Co-authored papers 12
European Bioinformatics Institute
Co-authored papers 12
European Bioinformatics Institute (EBI)
Co-authored papers 12
Perth Children's Hospital
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German Center for Diabetes Research (DZD e.V.)
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European Bioinformatics Institute
Co-authored papers 12
King's College London
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Critical Path Institute
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University of California davis
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William Harvey Research Institute, Queen Mary University of London
Co-authored papers 10
Wellcome Trust Sanger Institute
Co-authored papers 9
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Institut Clinique de la Souris (ICS), Universite de Strasbourg, CNRS, INSERM
Co-authored papers 9
University of Adelaide
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Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital
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The Hospital for Sick Children
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