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Author Details

Karyn Megy
University of Cambridge
2002
49
26
PMIDPaper TitleJournal TitlePublished Year
38016518Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.J Thromb Haemost2024
36895957Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.Brain Commun2023
37647632The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants.Blood2023
36722341Practical challenges for functional validation of STAT1 gain of function genetic variants.Clin Exp Immunol2023
36444397Effectiveness and costs of a stepwise versus an all-in-one approach to diagnose mild bleeding disorders.Br J Haematol2023
36737374Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617].J Thromb Haemost2023
35211795Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.Pediatr Nephrol2022
35586607Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.HGG Adv2022
36192731Implementation of individualised polygenic risk score analysis: a test case of a family of four.BMC Med Genomics2022
35001370Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time.Br J Haematol2022
34355501GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.J Thromb Haemost2021
33763108Whole Genome Interpretation for a Family of Five.Front Genet2021
33783834Advances in understanding the pathogenesis of hereditary macrothrombocytopenia.Br J Haematol2021
31562665Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Hum Mutat2020
32573726Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.Blood2020
32750130Development and validation of a universal blood donor genotyping platform: a multinational prospective study.Blood Adv2020
31204551De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.Platelets2019
31217188Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.Blood2019
31179617Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.J Thromb Haemost2019
30526634Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.Genome Med2018
29909963Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.Am J Hum Genet2018
28041643Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet2017
27084890A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood2016
26481351Expression Atlas update--an integrated database of gene and protein expression in humans, animals and plants.Nucleic Acids Res2016
27863252The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.Cell2016
26856261Genomic insights into the Ixodes scapularis tick vector of Lyme disease.Nat Commun2016
25361974ArrayExpress update--simplifying data submissions.Nucleic Acids Res2015
26627243Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infection.Proc Natl Acad Sci U S A2015
24304889Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments.Nucleic Acids Res2014
22135296VectorBase: improvements to a bioinformatics resource for invertebrate vector genomics.Nucleic Acids Res2012
22067447Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species.Nucleic Acids Res2012
19906699Ensembl's 10th year.Nucleic Acids Res2010
20929811Pathogenomics of Culex quinquefasciatus and meta-analysis of infection responses to diverse pathogens.Science2010
20929810Sequencing of Culex quinquefasciatus establishes a platform for mosquito comparative genomics.Science2010
19884133Ensembl Genomes: extending Ensembl across the taxonomic space.Nucleic Acids Res2010
18262474Genomic resources for invertebrate vectors of human pathogens, and the role of VectorBase.Infect Genet Evol2009
19211788Comparative genomics allows the discovery of cis-regulatory elements in mosquitoes.Proc Natl Acad Sci U S A2009
19033362Ensembl 2009.Nucleic Acids Res2009
19028744VectorBase: a data resource for invertebrate vector genomics.Nucleic Acids Res2009
18000006Ensembl 2008.Nucleic Acids Res2008
17145709VectorBase: a home for invertebrate vectors of human pathogens.Nucleic Acids Res2007
17510324Genome sequence of Aedes aegypti, a major arbovirus vector.Science2007
17148474Ensembl 2007.Nucleic Acids Res2007
16706918Prospecting for pig single nucleotide polymorphisms in the human genome: have we struck gold?J Anim Breed Genet2006
15771729Mapping of the porcine serine carboxypeptidase vitellogenic-like gene (CPVL) to chromosome 18.Anim Genet2005
16167987Analysis of public single nucleotide polymorphisms in commercial pig populations.Anim Genet2005
12620117Positional clustering of differentially expressed genes on human chromosomes 20, 21 and 22.Genome Biol2003
12537563Heart-specific genes revealed by expressed sequence tag (EST) sampling.Genome Biol2002
12225578Heart specific genes revealed by EST sampling.Genome Biol2002
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Collaborators

University of Cambridge
Co-authored papers 12
Center for Molecular and Vascular Biology, University of Leuven
Co-authored papers 10
Co-authored papers 10
European Bioinformatics Institute
Co-authored papers 10
National Health Service Blood and Transplant, University of Cambridge
Co-authored papers 9
Co-authored papers 7
University of Cambridge
Co-authored papers 7
Cambridge University Hospitals NHS Foundation
Co-authored papers 6
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California State Polytechnic University
Co-authored papers 6
University of Geneva
Co-authored papers 5
University of California riverside
Co-authored papers 5
Department of Biochemistry and the Fralin Life Sciences Institute, Virginia Tech
Co-authored papers 4
Co-authored papers 4
Eck Institute for Global Health, University of Notre Dame
Co-authored papers 4
University of Lausanne
Co-authored papers 4
European Bioinformatics Institute
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 4
University of Adelaide
Co-authored papers 4
Institute of Cancer Research
Co-authored papers 4
Heart and Lung Research Institute, University of Cambridge
Co-authored papers 4
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Co-authored papers 4
Icahn School of Medicine at Mount Sinai
Co-authored papers 4
Northeastern University
Co-authored papers 4
Wellcome Trust Sanger Institute
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William Harvey Research Institute, Queen Mary University of London
Co-authored papers 4
European Bioinformatics Institute
Co-authored papers 4
University of Cambridge
Co-authored papers 4
International Livestock Research Institute (ILRI)
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