Richard Spielman

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc Genetic heterogeneity and trans regulators of gene expression
    Laurel A Bastone
    Division of Biostatistics, Department of Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, 423 Guardian Drive, Philadelphia, Pennsylvania 19104, USA
    BMC Proc 1:S80. 2007
  2. pmc Common genetic variants account for differences in gene expression among ethnic groups
    Richard S Spielman
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 39:226-31. 2007
  3. pmc Coexpression network based on natural variation in human gene expression reveals gene interactions and functions
    Renuka R Nayak
    Medical Scientist Training Program, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Genome Res 19:1953-62. 2009
  4. pmc Genetic analysis of genome-wide variation in human gene expression
    Michael Morley
    Department of Pediatrics, University of Pennsylvania, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 430:743-7. 2004
  5. pmc Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans
    Vivian G Cheung
    The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA
    BMC Proc 1:S2. 2007
  6. pmc Monozygotic twins reveal germline contribution to allelic expression differences
    Vivian G Cheung
    Howard Hughes Medical Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Am J Hum Genet 82:1357-60. 2008
  7. doi request reprint Disease associations and family-based tests
    Warren J Ewens
    University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Curr Protoc Hum Genet . 2008
  8. pmc Mapping determinants of human gene expression by regional and genome-wide association
    Vivian G Cheung
    Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nature 437:1365-9. 2005
  9. ncbi request reprint The keeshond defect in cardiac conotruncal development is oligogenic
    Petra Werner
    Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancy Street, Philadelphia, PA 19104 6010, USA
    Hum Genet 116:368-77. 2005
  10. pmc A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker
    Warren J Ewens
    Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    PLoS Genet 4:e1000180. 2008

Collaborators

Detail Information

Publications27

  1. pmc Genetic heterogeneity and trans regulators of gene expression
    Laurel A Bastone
    Division of Biostatistics, Department of Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, 423 Guardian Drive, Philadelphia, Pennsylvania 19104, USA
    BMC Proc 1:S80. 2007
    ..We test for linkage, accounting for heterogeneity, and classify individual families as "linked" and "unlinked" on the basis of their contribution to the overall evidence of linkage...
  2. pmc Common genetic variants account for differences in gene expression among ethnic groups
    Richard S Spielman
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 39:226-31. 2007
    ..As some of these are probably influenced by the level of gene expression, our results suggest that allele frequency differences at regulatory polymorphisms also account for some population differences in prevalence of complex diseases...
  3. pmc Coexpression network based on natural variation in human gene expression reveals gene interactions and functions
    Renuka R Nayak
    Medical Scientist Training Program, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Genome Res 19:1953-62. 2009
    ..Therefore, our analysis of gene coexpression networks offers information on the role of human genes in normal and disease processes...
  4. pmc Genetic analysis of genome-wide variation in human gene expression
    Michael Morley
    Department of Pediatrics, University of Pennsylvania, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 430:743-7. 2004
    ..The combination of microarray techniques for phenotyping and linkage analysis for quantitative traits allows the genetic mapping of determinants that contribute to variation in human gene expression...
  5. pmc Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans
    Vivian G Cheung
    The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA
    BMC Proc 1:S2. 2007
    ..For this purpose, 2882 single-nucleotide polymorphism genotypes were also provided for each family member...
  6. pmc Monozygotic twins reveal germline contribution to allelic expression differences
    Vivian G Cheung
    Howard Hughes Medical Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Am J Hum Genet 82:1357-60. 2008
    ..We also show that even subtle departures from equal allelic expression are often genetically determined...
  7. doi request reprint Disease associations and family-based tests
    Warren J Ewens
    University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Curr Protoc Hum Genet . 2008
    ..The unit includes the Sib TDT (S-TDT) method, which allows application of the principle of the TDT to sibships without parental data, and several related tests...
  8. pmc Mapping determinants of human gene expression by regional and genome-wide association
    Vivian G Cheung
    Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nature 437:1365-9. 2005
    ..Our findings suggest that association studies with dense SNP maps will identify susceptibility loci or other determinants for some complex traits or diseases...
  9. ncbi request reprint The keeshond defect in cardiac conotruncal development is oligogenic
    Petra Werner
    Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancy Street, Philadelphia, PA 19104 6010, USA
    Hum Genet 116:368-77. 2005
    ..We excluded from the linked regions in the dog, a number of genes known to have a role in the etiology of CTDs and predict that continuing studies will identify CTD-predisposing genes not previously recognized...
  10. pmc A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker
    Warren J Ewens
    Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    PLoS Genet 4:e1000180. 2008
    ..Finally, we comment on power considerations in the choice of the test to be used. We hope this brief review will shed light on the similarities and differences of the various quantitative TDTs...
  11. pmc Genetics of human gene expression: mapping DNA variants that influence gene expression
    Vivian G Cheung
    Howard Hughes Medical Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nat Rev Genet 10:595-604. 2009
    ..These findings are important for basic understanding of gene regulation and of diseases that result from disruption of normal gene regulation...
  12. ncbi request reprint Natural variation in human gene expression assessed in lymphoblastoid cells
    Vivian G Cheung
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 33:422-5. 2003
    ..These observations suggest that there is a genetic contribution to polymorphic variation in the level of gene expression...
  13. ncbi request reprint The genetics of variation in gene expression
    Vivian G Cheung
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 32:522-5. 2002
    ..Further advances in the genetic analysis of variation in gene expression will contribute to our understanding of transcriptional regulation and will provide models for studying other quantitative and complex traits...
  14. ncbi request reprint Bridging genetics and genomics in neurology
    Vivian G Cheung
    Department of Pediatrics, University of Pennsylvania, School of Medicine, 3516 Civic Center Blvd, RM 516, Abramson, Philadelphia, PA 19104, USA
    Neurol Clin 20:867-77, viii. 2002
    ..In this article, we review the emerging technologies and discuss results from studies that have used genomic approaches...
  15. pmc Family-based analysis of candidate genes for polycystic ovary syndrome
    Kathryn G Ewens
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Clin Endocrinol Metab 95:2306-15. 2010
    ..D19S884, a polymorphic marker in fibrillin 3 (FBN3), is one of the few association findings that has been replicated in independent sets of families...
  16. doi request reprint Disease associations and family-based tests
    Warren J Ewens
    University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Curr Protoc Hum Genet . 2003
    ..The unit includes the Sib TDT (S-TDT) method, which allows application of the principle of the TDT to sibships without parental data. This extension of TDT is potentially valuable for studying late onset diseases...
  17. ncbi request reprint Assessment of 115 candidate genes for diabetic nephropathy by transmission/disequilibrium test
    Kathryn Gogolin Ewens
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6145, USA
    Diabetes 54:3305-18. 2005
    ..In addition, our results provide modest support for a number of candidate genes previously studied by others...
  18. 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...
  19. ncbi request reprint What is the significance of a significant TDT?
    Warren J Ewens
    Department of Biology, University of Pennsylvania, Philadelphia, PA 19104 6018, USA
    Hum Hered 60:206-10. 2005
    ..Furthermore, when linkage is not in doubt, the TDT can, in some cases, also provide a test of association between marker and disease. We discuss these various matters in this paper...
  20. pmc Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells
    Beth A Dombroski
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Am J Hum Genet 86:719-29. 2010
    ..These results have implications for basic understanding of ER function and its role in disease susceptibility...
  21. ncbi request reprint Variation in resistin gene promoter not associated with polycystic ovary syndrome
    Margrit Urbanek
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Diabetes 52:214-7. 2003
    ..3 and PCOS. Instead, this association is most likely due to a gene or genetic element in this region that has not been identified...
  22. ncbi request reprint Introduction to Genetic Analysis Workshop 15 summaries
    John S Witte
    Department of Epidemiology and Biostatistics, Institute for Human Genetics, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    Genet Epidemiol 31:S1-6. 2007
    ..Further details on GAW15 are provided here, and the primary findings from the workshop are highlighted in the following group summary papers...
  23. ncbi request reprint A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
    ..A mixed epigenetic and genetic and mixed de novo and inherited (MEGDI) model could be relevant to other "complex disease traits"...
  24. pmc Gene expression phenotype in heterozygous carriers of ataxia telangiectasia
    Jason A Watts
    Department of Pediatrics, University of Pennsylvania, Philadelphia 19104, USA
    Am J Hum Genet 71:791-800. 2002
    ..More generally, we demonstrate that genomic technologies offer the opportunity to identify and study unaffected carriers, who are hundreds of times more common than affected patients...
  25. pmc Ovulatory response to treatment of polycystic ovary syndrome is associated with a polymorphism in the STK11 gene
    Richard S Legro
    Department of Obstetrics and Gynecology, Pennsylvania State University, M S Hershey Medical Center, 500 University Drive, H103, Hershey, Pennsylvania 17033, USA
    J Clin Endocrinol Metab 93:792-800. 2008
    ..Clomiphene and insulin sensitizers such as metformin are used to induce ovulation in polycystic ovary syndrome (PCOS), but the ovulatory response is variable, and the causes of this variation are poorly understood...
  26. ncbi request reprint The TDT is a statistically valid test: comments on Wittkowski and Liu
    Warren J Ewens
    Hum Hered 58:59-60; author reply 60-1; discussion 61-2. 2004
  27. ncbi request reprint Nuclear and mitochondrial genetic variation in the Yanomamö: a test case for ancient DNA studies of prehistoric populations
    Sloan R Williams
    Department of Anthropology, University of Illinois at Chicago, Chicago, Illinois, 60607, USA
    Am J Phys Anthropol 117:246-59. 2002
    ..However, interpretations, particularly those based on single loci such as mitochondrial DNA, should be cautious because sex-specific migration and sampling issues may have dramatic effects...