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Author Details

Sofie Ashford
University of Cambridge
2008
17
15
PMIDPaper TitleJournal TitlePublished Year
34581777G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1.Blood Adv2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32492392Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.Cell Metab2020
31123110Germline selection shapes human mitochondrial DNA diversity.Science2019
31715324The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety.Behav Res Ther2019
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
28614302Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs.Nature2017
28489815Common genetic variation drives molecular heterogeneity in human iPSCs.Nature2017
28703137Platelet function is modified by common sequence variation in megakaryocyte super enhancers.Nat Commun2017
28663568Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.Sci Rep2017
26936507A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Sci Transl Med2016
27863251Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.Cell2016
26912466A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Blood2016
24209692KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.Cell2013
21915365Prospective study of insulin-like growth factor-I, insulin-like growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease.Int J Mol Epidemiol Genet2011
20864672Genetic variants influencing circulating lipid levels and risk of coronary artery disease.Arterioscler Thromb Vasc Biol2010
18262040LDL-cholesterol concentrations: a genome-wide association study.Lancet2008
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Collaborators

Willem H Ouwehand
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Co-authored papers 9
Christopher J Penkett
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Co-authored papers 6
Kathleen Stirrups
University of Cambridge
Co-authored papers 6
Nicholas J Wareham
Co-authored papers 6
Augusto Rendon
Genomics England Ltd
Co-authored papers 6
John R Bradley
Cambridge University Hospitals NHS Foundation
Co-authored papers 5
Inês Barroso
Co-authored papers 5
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University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 4
Laura Clarke
Co-authored papers 4
Ernest Turro
Icahn School of Medicine at Mount Sinai
Co-authored papers 4
Oliver Stegle
Wellcome Sanger Institute
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Eleanor Wheeler
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Lausanne University Hospital and University of Lausanne
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Xin Yuan
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Andrew D Mumford
University of Bristol
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Shane McCarthy
Wellcome Sanger Institute
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Myrto Kostadima
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Vincent Mooser
McGill University
Co-authored papers 3
Robert Luben
Co-authored papers 3
Ismaa Sadaf Farooqi
Co-authored papers 3
Sylvia Richardson
Co-authored papers 3
Manjinder S Sandhu
Co-authored papers 3
Philip L Beales
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 3
Rutendo Mapeta
Cambridge University Hospitals NHS Foundation
Co-authored papers 3
Jonathan Stephens
Co-authored papers 3
John Danesh
Co-authored papers 3
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