Simon G Gregory

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. ncbi request reprint The DNA sequence and biological annotation of human chromosome 1
    S G Gregory
    The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Nature 441:315-21. 2006
  2. pmc Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH
    Stine H Kresse
    Department of Tumour Biology, The Norwegian Radium Hospital, Oslo, Norway
    Mol Cancer 4:39. 2005
  3. pmc Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy
    Yi Ju Li
    Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, United States of America
    PLoS ONE 6:e18044. 2011
  4. pmc Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
    Simon G Gregory
    Duke Center for Human Genetics, DUMC, Durham, NC, USA
    BMC Med 7:62. 2009
  5. pmc Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis
    David R Crosslin
    Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Durham, NC 27710, USA
    Hum Genet 125:217-29. 2009
  6. pmc Genetic and functional association of FAM5C with myocardial infarction
    Jessica J Connelly
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    BMC Med Genet 9:33. 2008
  7. pmc The DNA sequence of the human X chromosome
    Mark T Ross
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 434:325-37. 2005
  8. ncbi request reprint A physical map of the mouse genome
    Simon G Gregory
    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nature 418:743-50. 2002
  9. pmc GATA2 is associated with familial early-onset coronary artery disease
    Jessica J Connelly
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States
    PLoS Genet 2:e139. 2006
  10. ncbi request reprint Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping
    Stephen J Sawcer
    University of Cambridge Neurology Unit, Addenbrooke s Hospital, UK
    Hum Mol Genet 13:1943-9. 2004

Detail Information

Publications24

  1. ncbi request reprint The DNA sequence and biological annotation of human chromosome 1
    S G Gregory
    The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Nature 441:315-21. 2006
    ....
  2. pmc Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH
    Stine H Kresse
    Department of Tumour Biology, The Norwegian Radium Hospital, Oslo, Norway
    Mol Cancer 4:39. 2005
    ..In this study we have mapped and characterized the amplicon in 1q23 in more detail...
  3. pmc Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy
    Yi Ju Li
    Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, United States of America
    PLoS ONE 6:e18044. 2011
    ..5 Mb proximal to rs613872. In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies...
  4. pmc Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
    Simon G Gregory
    Duke Center for Human Genetics, DUMC, Durham, NC, USA
    BMC Med 7:62. 2009
    ..Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders...
  5. pmc Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis
    David R Crosslin
    Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Durham, NC 27710, USA
    Hum Genet 125:217-29. 2009
    ....
  6. pmc Genetic and functional association of FAM5C with myocardial infarction
    Jessica J Connelly
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    BMC Med Genet 9:33. 2008
    ..59, D1S1589/D1S518). The overlap of genetic screens in independent data sets provides evidence for the existence of a gene or genes for CAD in this region...
  7. pmc The DNA sequence of the human X chromosome
    Mark T Ross
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 434:325-37. 2005
    ..Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence...
  8. ncbi request reprint A physical map of the mouse genome
    Simon G Gregory
    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nature 418:743-50. 2002
    ..The human sequence may be used to facilitate construction of other mammalian genome maps using the same strategy...
  9. pmc GATA2 is associated with familial early-onset coronary artery disease
    Jessica J Connelly
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States
    PLoS Genet 2:e139. 2006
    ....
  10. ncbi request reprint Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping
    Stephen J Sawcer
    University of Cambridge Neurology Unit, Addenbrooke s Hospital, UK
    Hum Mol Genet 13:1943-9. 2004
    ..The extent of additional information extracted is considerable, indicating that reanalysis of existing multiplex families using these newer systems would substantially increase power...
  11. pmc Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets
    Beth S Sutton
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Mol Genet 17:1318-28. 2008
    ..Further functional studies involving a combination of risk alleles are warranted...
  12. pmc SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach
    Jacob L McCauley
    Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
    BMC Genomics 8:266. 2007
    ..We chose annotated SNPs in the region based on location within MCSs (termed MCS-SNPs). We then obtained genotypes for 478 MCS-SNPs in 989 individuals from MS families...
  13. ncbi request reprint Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis
    Simon G Gregory
    Center for Human Genetics, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nat Genet 39:1083-91. 2007
    ..The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer...
  14. ncbi request reprint Risk alleles for multiple sclerosis identified by a genomewide study
    David A Hafler
    Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, and Harvard Medical School, Boston, USA
    N Engl J Med 357:851-62. 2007
    ..Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis...
  15. pmc Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease
    Liyong Wang
    Center for Human Genetics, Department of Medicine, Duke Univeristy Medical Center, Durham, NC, USA
    Am J Hum Genet 80:650-63. 2007
    ..KALRN and two other associated genes identified in this study (CDGAP and MYLK) belong to the Rho GTPase-signaling pathway. Our data suggest the importance of the KALRN gene and the Rho GTPase-signaling pathway in the pathogenesis of CAD...
  16. pmc A high-density screen for linkage in multiple sclerosis
    Stephen Sawcer
    University of Cambridge, Department of Clinical Neuroscience, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, United Kingdom
    Am J Hum Genet 77:454-67. 2005
    ....
  17. pmc SNPselector: a web tool for selecting SNPs for genetic association studies
    Hong Xu
    The Duke Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Bioinformatics 21:4181-6. 2005
    ..SNPselector outputs result in compressed Excel spreadsheet files for review by the user...
  18. pmc A second major histocompatibility complex susceptibility locus for multiple sclerosis
    Tai Wai Yeo
    Department of Clinical Neurosciences, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
    Ann Neurol 61:228-36. 2007
    ..The possibility that other genes in the MHC independently influence susceptibility to multiple sclerosis has been suggested but remains unconfirmed...
  19. ncbi request reprint Organization of the MASP2 locus and its expression profile in mouse and rat
    Cordula M Stover
    Department of Infection, Immunity and Inflammation, University of Leicester, Leicester LE1 9HN, United Kingdom
    Mamm Genome 15:887-900. 2004
    ..The expression of all genes within the MASP2 locus was analyzed in mouse and rat. The restricted expression of MASP-2 and MAp19 mRNA in liver contrasts with the ubiquitous expression of all neighboring genes studied...
  20. ncbi request reprint Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma
    Peter S White
    Division of Oncology, The Children s Hospital of Philadelphia, 3516 Civic Center Blvd, Philadelphia, PA 19104, USA
    Oncogene 24:2684-94. 2005
    ..Together, these results suggest that one or more genes involved in neuroblastoma tumorigenesis or tumor progression are likely contained within this region...
  21. doi request reprint Refinement of 2q and 7p loci in a large multiplex NTD family
    Demetra S Stamm
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Birth Defects Res A Clin Mol Teratol 82:441-52. 2008
    ..Previous linkage analysis using a genome-wide SNP screen in family 8776 with multipoint nonparametric mapping methods identified maximum LOD* scores of approximately 3.0 mapping to 2q33.1-q35 and 7p21.1-pter...
  22. ncbi request reprint Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P
    Hal M Hoffman
    Division of Rheumatology, Allergy, and Immunology, University of California at San Diego, 9500 Gilman Drive, La Jolla, California 92093 0635, USA
    Hum Genet 112:209-16. 2003
    ..We also report a comprehensive list of intragenic single nucleotide polymorphisms. The data provided here will assist others researching the 1q44 region and will aid clinicians in the diagnosis of FCAS...
  23. ncbi request reprint Linkage and association with type 1 diabetes on chromosome 1q42
    Kathryn G Ewens
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Diabetes 51:3318-25. 2002
    ..006). These findings extend the evidence supporting the existence of a type 1 diabetes susceptibility locus on chromosome 1q42 and identify a candidate region amenable to positional cloning efforts...
  24. ncbi request reprint Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH
    Caroline Jarbo
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden
    Int J Cancer 118:1159-64. 2006
    ..Supplemental material for this article can be found on the International Journal of Cancer website at http://www.interscience.wiley.com/jpages/0020-7136/suppmat/index.html...

Research Grants3

  1. High-Resolution CGH Charaterization of Brain Tumors
    Simon Gregory; Fiscal Year: 2005
    ....
  2. Defining the Functional Role of a Novel MS Susceptibility Gene, IL7R alpha chain
    Simon Gregory; Fiscal Year: 2009
    ..We propose to compare the function of IL-7R in specific immune cells in MS patients and control individuals to identify how IL-7R influences immune cell maintenance. ..
  3. Defining the Functional Role of a Novel MS Susceptibility Gene, IL7R alpha chain
    Simon G Gregory; Fiscal Year: 2010
    ..We propose to compare the function of IL-7R in specific immune cells in MS patients and control individuals to identify how IL-7R influences immune cell maintenance. ..