Research Topics
Species | Richard SpielmanSummaryAffiliation: University of Pennsylvania Country: USA Publications
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Publications
Genetic heterogeneity and trans regulators of gene expressionLaurel 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...- Common genetic variants account for differences in gene expression among ethnic groupsRichard 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... - Coexpression network based on natural variation in human gene expression reveals gene interactions and functionsRenuka 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... - Genetic analysis of genome-wide variation in human gene expressionMichael 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... - Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humansVivian 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... - Monozygotic twins reveal germline contribution to allelic expression differencesVivian 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... 
Disease associations and family-based testsWarren 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...- Mapping determinants of human gene expression by regional and genome-wide associationVivian 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... 
The keeshond defect in cardiac conotruncal development is oligogenicPetra 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...- A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic markerWarren 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... - Genetics of human gene expression: mapping DNA variants that influence gene expressionVivian 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... - Natural variation in human gene expression assessed in lymphoblastoid cellsVivian 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... - The genetics of variation in gene expressionVivian 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... - Bridging genetics and genomics in neurologyVivian 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... - Family-based analysis of candidate genes for polycystic ovary syndromeKathryn 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... - Disease associations and family-based testsWarren 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... - Assessment of 115 candidate genes for diabetic nephropathy by transmission/disequilibrium testKathryn 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... - 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... - 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... - Gene expression and genetic variation in response to endoplasmic reticulum stress in human cellsBeth 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... - Variation in resistin gene promoter not associated with polycystic ovary syndromeMargrit 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... - Introduction to Genetic Analysis Workshop 15 summariesJohn 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... - A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AYong-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"... - Gene expression phenotype in heterozygous carriers of ataxia telangiectasiaJason 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... - Ovulatory response to treatment of polycystic ovary syndrome is associated with a polymorphism in the STK11 geneRichard 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... - The TDT is a statistically valid test: comments on Wittkowski and LiuWarren J Ewens
Hum Hered 58:59-60; author reply 60-1; discussion 61-2. 2004 - Nuclear and mitochondrial genetic variation in the Yanomamö: a test case for ancient DNA studies of prehistoric populationsSloan 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...