Research Topics
Genomes and GenesSpecies | Simon G GregorySummaryAffiliation: Duke University Medical Center Country: USA Publications
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Publications
Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGHStine 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...
The DNA sequence and biological annotation of human chromosome 1S G Gregory
The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
Nature 441:315-21. 2006....
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophyYi 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...
Genomic and epigenetic evidence for oxytocin receptor deficiency in autismSimon 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...
Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosisDavid R Crosslin
Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Durham, NC 27710, USA
Hum Genet 125:217-29. 2009....
Genetic and functional association of FAM5C with myocardial infarctionJessica 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...
The DNA sequence of the human X chromosomeMark 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...
A physical map of the mouse genomeSimon 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...
GATA2 is associated with familial early-onset coronary artery diseaseJessica J Connelly
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States
PLoS Genet 2:e139. 2006....
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotypingStephen 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...
Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasetsBeth 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...
SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approachJacob 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...
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosisSimon 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...
Risk alleles for multiple sclerosis identified by a genomewide studyDavid 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...
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery diseaseLiyong 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...
A high-density screen for linkage in multiple sclerosisStephen 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....
SNPselector: a web tool for selecting SNPs for genetic association studiesHong 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. AVAILABILITY: SNPselector is freely available at http://primer.duhs.duke.edu/..
A second major histocompatibility complex susceptibility locus for multiple sclerosisTai 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...
Organization of the MASP2 locus and its expression profile in mouse and ratCordula 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...
Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastomaPeter 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...
Refinement of 2q and 7p loci in a large multiplex NTD familyDemetra 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...
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353PHal 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...
Linkage and association with type 1 diabetes on chromosome 1q42Kathryn 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...
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGHCaroline 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 Grants
- High-Resolution CGH Charaterization of Brain TumorsSimon Gregory; Fiscal Year: 2005....
- Defining the Functional Role of a Novel MS Susceptibility Gene, IL7R alpha chainSimon 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. ..
- Defining the Functional Role of a Novel MS Susceptibility Gene, IL7R alpha chainSimon 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. ..
