Genomes and Genes
Simon G Gregory
Affiliation: Duke University Medical Center
- 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....
- 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...
- 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...
- 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...
- High-Resolution CGH Charaterization of Brain TumorsSimon Gregory; Fiscal Year: 2005....