Genome-wide association study identifies novel breast cancer susceptibility loci (2007)
Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D.P., Thompson, Deborah, Ballinger, Dennis G., ...
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast...
Genome-wide association study identifies novel breast cancer susceptibility loci (2007)
Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., ...
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast...
A common allele on chromosome 9 associated with coronary heart disease (2007)
McPherson, Ruth, Pertsemlidis, Alexander, Kavaslar, Nihan, Stewart, Alexandre, Roberts, Robert, Cox, David R., ...
Allele-Specific KRT1 Expression Is a Complex Trait (2006)
Heng Tao, David R. Cox, Kelly A. Frazer
The differential expression of alleles occurs commonly in humans and is likely an important genetic factor underlying heritable differences in phenotypic traits. Understanding the molecular basis of...
Ranade, Koustubh, Hinds, David, Hsiung, Chao Agnes, Chuang, Lee-Ming, Chang, Mau-Song, Chen, Ying-Tsung, ...
Background: Our understanding of genes that predispose to essential hypertension is poor. Methods: A genome-wide scan for linkage at ~10 cM resolution was done on 1425 sibpairs of Chinese and...
Likelihood-based inference with singular information matrix (2000)
Rotnitzky, Andrea, Cox, David R., Bottai, Matteo, Robins, James
We consider likelihood-based asymptotic inference for a p-dimensional parameter θ of an identifiable parametric model with singular information matrix of rank p-1 at θ=θ* and likelihood...
On association models defined over independence graphs (1998)
Conditions on joint distributions are given under which two variables will be conditionally associated whenever an independence graph does not imply a corresponding conditional independence...
Frazer, Kelly A., Boehnke, Michael, Budarf, Marcia L., Wolff, Roger K., Emanuel, Beverly S., Myers, Richard M., ...
We describe a high-resolution radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 (NF2) gene. Eighty-five hamster--human somatic cell hybrids generated...
The administration of instructional supplies in the school districts of Utah / (1948)
Thesis (M.S.) University of Utah. Dept. of Education.
Precise gene localization by phenotypic assay of radiation hybrid cells
Rasko, John E. J., Battini, Jean-Luc, Kruglyak, Leonid, Cox, David R., Miller, A. Dusty
A high resolution map of the human genome previously has been constructed by using the G3 panel of human/hamster radiation hybrid cell lines and >15,000 unique human genetic markers. By determining...
Genetic variation in aldosterone synthase predicts plasma glucose levels
Ranade, Koustubh, Wu, Kwan Dun, Risch, Neil, Olivier, Michael, Pei, Dee, Hsiao, Chin-Fu, ...
The mineralocorticoid hormone, aldosterone, is known to play a role in sodium homeostasis. We serendipitously found, however, highly significant association between single-nucleotide polymorphisms in...
High-throughput genotyping of single nucleotide polymorphisms using new biplex invader technology
Olivier, Michael, Chuang, Lee-Ming, Chang, Mau-Song, Chen, Ying-Tsung, Pei, Dee, Ranade, Koustubh, ...
The feasibility of large-scale genome-wide association studies of complex human disorders depends on the availability of accurate and efficient genotyping methods for single nucleotide polymorphisms...
High-Throughput Genotyping with Single Nucleotide Polymorphisms
Ranade, Koustubh, Chang, Mau-Song, Ting, Chih-Tai, Pei, Dee, Hsiao, Chin-Fu, Olivier, Michael, ...
To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the...
Evolutionarily Conserved Sequences on Human Chromosome 21
Frazer, Kelly A., Sheehan, John B., Stokowski, Renee P., Chen, Xiyin, Hosseini, Roya, Cheng, Jan-Fang, ...
Comparison of human sequences with the DNA of other mammals is an excellent means of identifying functional elements in the human genome. Here we describe the utility of high-density oligonucleotide...
Frazer, Kelly A., Tao, Heng, Osoegawa, Kazutoyo, De Jong, Pieter J., Chen, Xiyin, Doherty, Mark F., ...
Cross-species DNA sequence comparison is a fundamental method for identifying biologically important elements, because functional sequences are evolutionarily conserved, wheres nonfunctional...
Specific Detection of Antigen-Binding Cells by Localized Growth of Bacteria
A new method for the enumeration of lymphoid cells with specific surface-receptors for antigen is described, based on the use of β-D-galactosidase (EC 3.2.1.23), either directly as an antigen or as...
Genomic DNA Insertions and Deletions Occur Frequently Between Humans and Nonhuman Primates
Frazer, Kelly A., Chen, Xiyin, Hinds, David A., Pant, P.V. Krishna, Patil, Nila, Cox, David R.
Comparative DNA sequence studies between humans and nonhuman primates will be important for understanding the genetic basis of the phenotypic differences between these species. Here we compare ∼27...
Frazer, Kelly A., Wade, Claire M., Hinds, David A., Patil, Nila, Cox, David R., Daly, Mark J.
High-density SNP screening of panels of inbred mouse strains has been proposed as a method to accelerate the identification of genes associated with complex biomedical phenotypes. To evaluate the...
Stokowski, Renee P., Cox, David R.
Despite intense study of the neurofibromatosis type 2 (NF2) tumor-suppressor protein merlin, the biological properties and tumor-suppressor functions of merlin are still largely unknown. In this...
High-Resolution Whole-Genome Association Study of Parkinson Disease
Maraganore, Demetrius M., De Andrade, Mariza, Lesnick, Timothy G., Strain, Kari J., Farrer, Matthew J., Rocca, Walter A., ...
We performed a two-tiered, whole-genome association study of Parkinson disease (PD). For tier 1, we individually genotyped 198,345 uniformly spaced and informative single-nucleotide polymorphisms...
Allele-Specific KRT1 Expression Is a Complex Trait
Tao, Heng, Cox, David R, Frazer, Kelly A
The differential expression of alleles occurs commonly in humans and is likely an important genetic factor underlying heritable differences in phenotypic traits. Understanding the molecular basis of...
Analysis of allelic differential expression in human white blood cells
Pant, P.V. Krishna, Tao, Heng, Beilharz, Erica J., Ballinger, Dennis G., Cox, David R., Frazer, Kelly A.
Allelic variation of gene expression is common in humans, and is of interest because of its potential contribution to variation in heritable traits. To identify human genes with allelic expression...
Response from Maraganore et al.
Maraganore, Demetrius M., Andrade, Mariza De, Lesnick, Timothy G., Pant, P. V. Krishna, Cox, David R., Ballinger, Dennis G.
Recombination of 4p16 DNA markers in an unusual family with Huntington disease
Pritchard, Catrin, Zhu, Ning, Zuo, Jian, Bull, Laura, Pericak-Vance, Margaret A., Vance, Jeffery M., ...
The Huntington disease (HD) mutation has been localized to human chromosome 4p16, in a 6-Mb region between the D4S10 locus and the 4p telomere. In a report by Robbins et al., a family was identified...
Precise gene localization by phenotypic assay of radiation hybrid cells
Rasko, John E. J., Battini, Jean-Luc, Kruglyak, Leonid, Cox, David R., Miller, A. Dusty
A high resolution map of the human genome previously has been constructed by using the G3 panel of human/hamster radiation hybrid cell lines and >15,000 unique human genetic markers. By determining...
Genetic variation in aldosterone synthase predicts plasma glucose levels
Ranade, Koustubh, Wu, Kwan Dun, Risch, Neil, Olivier, Michael, Pei, Dee, Hsiao, Chin-Fu, ...
The mineralocorticoid hormone, aldosterone, is known to play a role in sodium homeostasis. We serendipitously found, however, highly significant association between single-nucleotide polymorphisms in...
High-throughput genotyping of single nucleotide polymorphisms using new biplex invader technology
Olivier, Michael, Chuang, Lee-Ming, Chang, Mau-Song, Chen, Ying-Tsung, Pei, Dee, Ranade, Koustubh, ...
The feasibility of large-scale genome-wide association studies of complex human disorders depends on the availability of accurate and efficient genotyping methods for single nucleotide polymorphisms...
High-Throughput Genotyping with Single Nucleotide Polymorphisms
Ranade, Koustubh, Chang, Mau-Song, Ting, Chih-Tai, Pei, Dee, Hsiao, Chin-Fu, Olivier, Michael, ...
To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the...
Evolutionarily Conserved Sequences on Human Chromosome 21
Frazer, Kelly A., Sheehan, John B., Stokowski, Renee P., Chen, Xiyin, Hosseini, Roya, Cheng, Jan-Fang, ...
Comparison of human sequences with the DNA of other mammals is an excellent means of identifying functional elements in the human genome. Here we describe the utility of high-density oligonucleotide...
Frazer, Kelly A., Tao, Heng, Osoegawa, Kazutoyo, De Jong, Pieter J., Chen, Xiyin, Doherty, Mark F., ...
Cross-species DNA sequence comparison is a fundamental method for identifying biologically important elements, because functional sequences are evolutionarily conserved, wheres nonfunctional...
A Polymorphism in the β1 Adrenergic Receptor Is Associated with Resting Heart Rate
Ranade, Koustubh, Jorgenson, Eric, Sheu, Wayne H.-H., Pei, Dee, Hsiung, Chao Agnes, Chiang, Fu-tien, ...
Resting heart rate is significantly associated with cardiovascular morbidity and mortality. However, the extent to which resting heart rate is genetically determined is poorly understood, and no...
Specific Detection of Antigen-Binding Cells by Localized Growth of Bacteria
A new method for the enumeration of lymphoid cells with specific surface-receptors for antigen is described, based on the use of β-D-galactosidase (EC 3.2.1.23), either directly as an antigen or as...
Genomic DNA Insertions and Deletions Occur Frequently Between Humans and Nonhuman Primates
Frazer, Kelly A., Chen, Xiyin, Hinds, David A., Pant, P.V. Krishna, Patil, Nila, Cox, David R.
Comparative DNA sequence studies between humans and nonhuman primates will be important for understanding the genetic basis of the phenotypic differences between these species. Here we compare ∼27...
Frazer, Kelly A., Wade, Claire M., Hinds, David A., Patil, Nila, Cox, David R., Daly, Mark J.
High-density SNP screening of panels of inbred mouse strains has been proposed as a method to accelerate the identification of genes associated with complex biomedical phenotypes. To evaluate the...
Matching Strategies for Genetic Association Studies in Structured Populations
Hinds, David A., Stokowski, Renee P., Patil, Nila, Konvicka, Karel, Kershenobich, David, Cox, David R., ...
Association studies in populations that are genetically heterogeneous can yield large numbers of spurious associations if population subgroups are unequally represented among cases and controls. This...
High-Resolution Whole-Genome Association Study of Parkinson Disease
Maraganore, Demetrius M., De Andrade, Mariza, Lesnick, Timothy G., Strain, Kari J., Farrer, Matthew J., Rocca, Walter A., ...
We performed a two-tiered, whole-genome association study of Parkinson disease (PD). For tier 1, we individually genotyped 198,345 uniformly spaced and informative single-nucleotide polymorphisms...
Stokowski, Renee P., Cox, David R.
Despite intense study of the neurofibromatosis type 2 (NF2) tumor-suppressor protein merlin, the biological properties and tumor-suppressor functions of merlin are still largely unknown. In this...
Analysis of allelic differential expression in human white blood cells
Pant, P.V. Krishna, Tao, Heng, Beilharz, Erica J., Ballinger, Dennis G., Cox, David R., Frazer, Kelly A.
Allelic variation of gene expression is common in humans, and is of interest because of its potential contribution to variation in heritable traits. To identify human genes with allelic expression...
Response from Maraganore et al.
Maraganore, Demetrius M., Andrade, Mariza De, Lesnick, Timothy G., Pant, P. V. Krishna, Cox, David R., Ballinger, Dennis G.
Allele-Specific KRT1 Expression Is a Complex Trait
Tao, Heng, Cox, David R, Frazer, Kelly A
The differential expression of alleles occurs commonly in humans and is likely an important genetic factor underlying heritable differences in phenotypic traits. Understanding the molecular basis of...
Recombination of 4p16 DNA markers in an unusual family with Huntington disease
Pritchard, Catrin, Zhu, Ning, Zuo, Jian, Bull, Laura, Pericak-Vance, Margaret A., Vance, Jeffery M., ...
The Huntington disease (HD) mutation has been localized to human chromosome 4p16, in a 6-Mb region between the D4S10 locus and the 4p telomere. In a report by Robbins et al., a family was identified...
Culling and cattle controls influence tuberculosis risk for badgers
Woodroffe, Rosie, Donnelly, Christl A., Jenkins, Helen E., Johnston, W. Thomas, Cox, David R., Bourne, F. John, ...
Human and livestock diseases can be difficult to control where infection persists in wildlife populations. In Britain, European badgers (Meles meles) are implicated in transmitting Mycobacterium...
Progressive Myoclonus Epilepsy EPM1 Locus Maps to a 175-kb Interval in Distal 21q
Virtaneva, Kimmo, Miao, Jinmin, Träskelin, Ann-Liz, Stone, Nancy, Warrington, Janet A., Weissenbach, Jean, ...
The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack...
In Vitro Human Keratinocyte Migration Rates Are Associated with SNPs in the KRT1 Interval
Tao, Heng, Berno, Anthony J., Cox, David R., Frazer, Kelly A.
Efforts to develop effective therapeutic treatments for promoting fast wound healing after injury to the epidermis are hindered by a lack of understanding of the factors involved....