Simon G Gregory

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. ncbi request reprint Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics
    Christina A Markunas
    Duke Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    BMC Med Genomics 7:39. 2014
  2. pmc Genetic screen of African Americans with Fuchs endothelial corneal dystrophy
    Mollie A Minear
    Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC
    Mol Vis 19:2508-16. 2013
  3. 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
  4. 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
  5. 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
  6. ncbi request reprint Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation
    Christina A Markunas
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Ann Hum Genet 78:1-12. 2014
  7. pmc Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates
    Christina A Markunas
    Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
    PLoS ONE 8:e61521. 2013
  8. pmc Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies
    Lisheng Zhang
    Department of Medicine Cardiology, Duke University Medical Center, Durham, NC, USA
    Hum Mol Genet 19:2754-66. 2010
  9. pmc Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort
    Cavin Ward-Caviness
    Center for Human Genetics, School of Medicine, Duke University Medical Center, Box 3382, Durham, NC, 27710, USA
    Hum Genet 132:1371-82. 2013
  10. 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

Collaborators

Detail Information

Publications29

  1. ncbi request reprint Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics
    Christina A Markunas
    Duke Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    BMC Med Genomics 7:39. 2014
    ..The purpose of the present study was to gain a better understanding of what factors contribute to this heterogeneity by using an unsupervised statistical approach to define disease subtypes within a case-only pediatric population...
  2. pmc Genetic screen of African Americans with Fuchs endothelial corneal dystrophy
    Mollie A Minear
    Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC
    Mol Vis 19:2508-16. 2013
    ..Given the sparse literature on African Americans with FECD, we sought to characterize the genetic variation in three known FECD candidate genes in African American patients with FECD...
  3. 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...
  4. 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...
  5. 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...
  6. ncbi request reprint Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation
    Christina A Markunas
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Ann Hum Genet 78:1-12. 2014
    ..07, p = 3 × 10(-3) ) and 22 (LOD = 3.45, p = 6 × 10(-5) ) containing several candidates warranting further investigation. This study underscores the genetic heterogeneity of CMI and the utility of PF traits in CMI genetic studies. ..
  7. pmc Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates
    Christina A Markunas
    Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
    PLoS ONE 8:e61521. 2013
    ....
  8. pmc Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies
    Lisheng Zhang
    Department of Medicine Cardiology, Duke University Medical Center, Durham, NC, USA
    Hum Mol Genet 19:2754-66. 2010
    ..We conclude that TNFR1 polymorphisms associate with aging-related CAD in humans, and TNFR1 contributes to aging-dependent atherosclerosis in mice...
  9. pmc Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort
    Cavin Ward-Caviness
    Center for Human Genetics, School of Medicine, Duke University Medical Center, Box 3382, Durham, NC, 27710, USA
    Hum Genet 132:1371-82. 2013
    ..026. Finally, a pathway-based analysis of the association results using WebGestalt revealed several enriched pathways including the regulation of the actin cytoskeleton pathway as defined by the Kyoto Encyclopedia of Genes and Genomes...
  10. 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...
  11. 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...
  12. pmc Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease
    Mollie A Minear
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Genet 129:641-54. 2011
    ..This is the first report of genetic association between polymorphisms in TNC and atherosclerosis or CAD...
  13. pmc Integrated genomic analyses identify ERRFI1 and TACC3 as glioblastoma-targeted genes
    Christopher G Duncan
    The Preston Robert Tisch Brain Tumor Center, The Pediatric Brain Tumor Foundation, The Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
    Oncotarget 1:265-77. 2010
    ..Our multifaceted genomic evaluation of glioblastoma establishes ERRFI1 as a potential candidate tumor suppressor gene and TACC3 as a potential oncogene, and provides insight on targets for oncogenic pathway-based therapy...
  14. 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...
  15. pmc Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family
    Hsiang Cheng Chen
    Duke University Medical Center, Durham, NC 27710, USA
    Arthritis Rheum 62:781-90. 2010
    ..The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for OA...
  16. pmc Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)
    Deidre R Krupp
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    Birth Defects Res A Clin Mol Teratol 94:683-92. 2012
    ..To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established transcriptomes from human neural tube fragments during and after neurulation using long Serial Analysis of Gene Expression (long-SAGE)...
  17. 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
    ....
  18. pmc Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations
    Christina A Markunas
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    J Neurosurg Pediatr 9:372-8. 2012
    ..The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders...
  19. pmc Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5
    Daniel K Nolan
    Center for Human Genetics, Duke University, 905 S, LaSalle Street, Duke Univeristy Medical Center, Durham, NC 27710, USA
    BMC Genet 13:12. 2012
    ..e., a qualitative phenotype) using linkage and association in the presence of linkage (APL; GENECARD) and logistic regression (CATHGEN and aortas)...
  20. pmc The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction
    Albert Y Sun
    Division of Cardiovascular Diseases, Department of Medicine, Duke University Medical Center, Durham, NC, USA
    Circ Cardiovasc Genet 4:163-8. 2011
    ..We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences the propensity for ventricular arrhythmias in black patients with heart failure and reduced ejection fraction...
  21. 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...
  22. doi request reprint Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype
    Karen L Soldano
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
    Birth Defects Res B Dev Reprod Toxicol 98:365-73. 2013
    ..0014). Our data extend the previous findings by implicating a role for all three NOS genes, independently and through interactions with MTHFR, in risk not only for spina bifida, but all NTD subtypes. ..
  23. 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...
  24. ncbi request reprint Association of autism with induced or augmented childbirth in North Carolina Birth Record (1990-1998) and Education Research (1997-2007) databases
    Simon G Gregory
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina2Duke Institute of Molecular Physiology, Duke University Medical Center, Durham, North Carolina
    JAMA Pediatr 167:959-66. 2013
    ..One in 88 children in the United States is diagnosed as having autism spectrum disorder. Significant interest centers on understanding the environmental factors that may contribute to autism risk...
  25. pmc Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis
    Svati H Shah
    Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America
    PLoS Genet 5:e1000318. 2009
    ..We conclude that NPY contributes to atherosclerosis pathogenesis...
  26. pmc Cleavage and polyadenylation specificity factor 1 (CPSF1) regulates alternative splicing of interleukin 7 receptor (IL7R) exon 6
    Irina Evsyukova
    Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA
    RNA 19:103-15. 2013
    ..This may be relevant for both T cell ontogeny and function and development of multiple sclerosis...
  27. pmc HDMX regulates p53 activity and confers chemoresistance to 3-bis(2-chloroethyl)-1-nitrosourea
    Genglin Jin
    Department of Pathology, Pediatric Brain Tumor Foundation Institute and Preston Robert Tisch Brain Tumor Center at Duke, Duke University Medical Center, Durham, North Carolina 27710, USA
    Neuro Oncol 12:956-66. 2010
    ..In summary, HDMX exhibits bona fide oncogenic properties and offers a promising molecular target for GBM therapeutic intervention...
  28. 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...
  29. pmc A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular disease
    Tianyuan Wang
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Genomics 3:221-35. 2009
    ..This method can be extended to other transcription factors identified in human disease studies to help further our understanding of the biology of complex disease...