Nicole Soranzo

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. pmc A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function
    Nicole Soranzo
    Human Genetics Department, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
    Blood 113:3831-7. 2009
  2. pmc A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    Nicole Soranzo
    Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 41:1182-90. 2009
  3. pmc Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci
    Dirk S Paul
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom
    Genome Res 23:1130-41. 2013
  4. ncbi request reprint A loss of function screen of identified genome-wide association study Loci reveals new genes controlling hematopoiesis
    Ewa Bielczyk-Maczyńska
    Department of Haematology, University of Cambridge, Cambridge, United Kingdom Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom NHS Blood and Transplant, Cambridge, United Kingdom
    PLoS Genet 10:e1004450. 2014
  5. doi request reprint SMIM1 underlies the Vel blood group and influences red blood cell traits
    Ana Cvejic
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 45:542-5. 2013
  6. pmc A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site
    Sylvia T Nürnberg
    Department of Haematology, University of Cambridge and National Health Service Blood and Transplant, Cambridge, United Kingdom
    Blood 120:4859-68. 2012
  7. pmc JAK2V617F leads to intrinsic changes in platelet formation and reactivity in a knock-in mouse model of essential thrombocythemia
    Catherine M Hobbs
    National Health System Blood and Transplant, Cambridge, United Kingdom
    Blood 122:3787-97. 2013
  8. pmc Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways
    Nicole Soranzo
    Human Genetics, Wellcome Trust Sanger Institute, Hinxton, U K
    Diabetes 59:3229-39. 2010
  9. pmc An atlas of genetic influences on human blood metabolites
    So Youn Shin
    1 Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK 2 3
    Nat Genet 46:543-50. 2014
  10. pmc Mapping cis- and trans-regulatory effects across multiple tissues in twins
    Elin Grundberg
    Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 44:1084-9. 2012

Detail Information

Publications20

  1. pmc A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function
    Nicole Soranzo
    Human Genetics Department, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
    Blood 113:3831-7. 2009
    ....
  2. pmc A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    Nicole Soranzo
    Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 41:1182-90. 2009
    ....
  3. pmc Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci
    Dirk S Paul
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom
    Genome Res 23:1130-41. 2013
    ..Our findings demonstrate that combining large-scale GWA data with open chromatin profiles of relevant cell types can be a powerful means of dissecting the genetic architecture of closely related quantitative traits. ..
  4. ncbi request reprint A loss of function screen of identified genome-wide association study Loci reveals new genes controlling hematopoiesis
    Ewa Bielczyk-Maczyńska
    Department of Haematology, University of Cambridge, Cambridge, United Kingdom Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom NHS Blood and Transplant, Cambridge, United Kingdom
    PLoS Genet 10:e1004450. 2014
    ....
  5. doi request reprint SMIM1 underlies the Vel blood group and influences red blood cell traits
    Ana Cvejic
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 45:542-5. 2013
    ..Our findings are of immediate relevance, as the homozygous presence of the deletion allows the unequivocal identification of Vel-negative blood donors...
  6. pmc A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site
    Sylvia T Nürnberg
    Department of Haematology, University of Cambridge and National Health Service Blood and Transplant, Cambridge, United Kingdom
    Blood 120:4859-68. 2012
    ..The importance of dynamin activity to the latter stages of thrombopoiesis was confirmed by the observation that the inhibitor Dynasore reduced murine proplatelet for-mation in vitro...
  7. pmc JAK2V617F leads to intrinsic changes in platelet formation and reactivity in a knock-in mouse model of essential thrombocythemia
    Catherine M Hobbs
    National Health System Blood and Transplant, Cambridge, United Kingdom
    Blood 122:3787-97. 2013
    ..In support of this hypothesis, we identify multiple differentially expressed genes in JAK2V617F megakaryocytes that may underlie the observed biological differences. ..
  8. pmc Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways
    Nicole Soranzo
    Human Genetics, Wellcome Trust Sanger Institute, Hinxton, U K
    Diabetes 59:3229-39. 2010
    ..We aimed to identify such genetic factors and investigate the extent to which they influence diabetes classification based on HbA₁(c) levels...
  9. pmc An atlas of genetic influences on human blood metabolites
    So Youn Shin
    1 Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK 2 3
    Nat Genet 46:543-50. 2014
    ..Our findings provide new insights into the role of inherited variation in blood metabolic diversity and identify potential new opportunities for drug development and for understanding disease...
  10. pmc Mapping cis- and trans-regulatory effects across multiple tissues in twins
    Elin Grundberg
    Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 44:1084-9. 2012
    ....
  11. pmc Genome-wide meta-analysis of common variant differences between men and women
    Vesna Boraska
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Hum Mol Genet 21:4805-15. 2012
    ..The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits...
  12. pmc Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits
    Vesna Boraska
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Am J Med Genet B Neuropsychiatr Genet 159:803-11. 2012
    ..Our study indicates that larger-scale collaborative studies will be needed to achieve the necessary power to detect loci underlying ED-related traits...
  13. pmc Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits
    Dirk S Paul
    Wellcome Trust Sanger Institute, Hinxton, United Kingdom
    PLoS Genet 7:e1002139. 2011
    ..Our data suggested a molecular mechanism by which a non-coding GWA index SNP modulates platelet phenotype...
  14. pmc Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile
    Tuomas O Kilpeläinen
    Medical Research Council MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge, UK
    Nat Genet 43:753-60. 2011
    ..Our findings provide new insights into adiposity and insulin resistance...
  15. pmc Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
    Cathy E Elks
    Medical Research Council MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
    Nat Genet 42:1077-85. 2010
    ..Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing...
  16. pmc Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders
    Marcel den Hoed
    Medical Research Council MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
    Nat Genet 45:621-31. 2013
    ..Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets...
  17. pmc Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake
    Jovana Serbanovic-Canic
    Department of Haematology, University of Cambridge and NHS Blood and Transplant, Cambridge, UK
    Blood 118:4967-76. 2011
    ..Taken together, this is the first study to provide evidence for ARHGEF3 being a regulator of transferrin uptake in erythroid cells, through activation of RHOA...
  18. pmc Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
    George F Mells
    Academic Department of Medical Genetics, Cambridge University, Cambridge, UK Department of Hepatology, Cambridge University Hospitals National Health Service NHS Foundation Trust, Cambridge, UK
    Nat Genet 43:329-32. 2011
    ..New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC...
  19. pmc A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose
    Fumihiko Takeuchi
    Wellcome Trust Sanger Institute, Hinxton, UK
    PLoS Genet 5:e1000433. 2009
    ..5% of dose variance. These GWAS results provide further impetus for conducting large-scale trials assessing patient benefit from genotype-based forecasting of warfarin dose...
  20. pmc Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size
    Nicole Soranzo
    Human Genetics Department, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
    PLoS Genet 5:e1000445. 2009
    ..Further statistical tests in larger numbers of individuals will be required to verify if the height loci affect height preferentially through these subcomponents of height...