Common variants in polygenic schizophrenia (2009)
Glessner, Joseph T, Hakonarson, Hakon
Abstract Common variant single-nucleotide polymorphisms at the MHC locus have recently been associated with schizophrenia. Together with known associations with rare copy-number variants affecting...
ATOM: a powerful gene-based association test by combining optimally weighted markers (2009)
Li, Mingyao, Wang, Kai, Grant, Struan F. A., Hakonarson, Hakon, Li, Chun
Background: Large-scale candidate-gene and genome-wide association studies genotype multiple SNPs within or surrounding a gene, including both tag and functional SNPs. The immense amount of data...
Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., ...
Microarrays are frequently used to profile genome-wide copy number (CN) aberrations. While generally robust for detecting CN variants in germline DNA, the methods used to derive CN from signal...
Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., ...
Shaikh, Tamim H., Gai, Xiaowu, Perin, Juan C., Glessner, Joseph T., Xie, Hongbo, Murphy, Kevin, ...
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of...
Multiple testing in genome-wide association studies via hidden Markov models (2009)
Wei, Zhi, Sun, Wenguang, Wang, Kai, Hakonarson, Hakon
Motivation: Genome-wide association studies (GWAS) interrogate common genetic variation across the entire human genome in an unbiased manner and hold promise in identifying genetic variants with...
Keating, Brendan J, Tischfield, Sam, Murray, Sarah S, Bhangale, Tushar, Price, Thomas S, Glessner, Joseph T, ...
A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide...
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms (2008)
Diskin, Sharon J., Li, Mingyao, Hou, Cuiping, Yang, Shuzhang, Glessner, Joseph, Hakonarson, Hakon, ...
Whole-genome microarrays with large-insert clones designed to determine DNA copy number often show variation in hybridization intensity that is related to the genomic position of the clones. We found...
Modeling genetic inheritance of copy number variations (2008)
Wang, Kai, Chen, Zhen, Tadesse, Mahlet G., Glessner, Joseph, Grant, Struan F. A., Hakonarson, Hakon, ...
Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping...
Wang, Kai, Li, Mingyao, Hadley, Dexter, Liu, Rui, Glessner, Joseph, Grant, Struan F.A., ...
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous...
Familial aggregation of atrial fibrillation in Iceland (2006)
Arnar, David O, Thorvaldsson, Sverrir, Manolio, Teri A, Thorgeirsson, Gudmundur, Kristjansson, Kristleifur, Hakonarson, Hakon, ...
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Helgadottir, Anna, Manolescu, Andrei, Helgason, Agnar, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, ...
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Familial aggregation of atrial fibrillation in Iceland (2006)
Arnar, David O., Thorvaldsson, Sverrir, Manolio, Teri A., Thorgeirsson, Gudmundur, Kristjansson, Kristleifur, Hakonarson, Hakon, ...
Aims To examine the heritability of atrial fibrillation (AF) in Icelanders, utilizing a nationwide genealogy database and population-based data on AF. AF is a disorder with a high prevalence, which...
Familial aggregation of atrial fibrillation in Iceland (2006)
Arnar, David O., Thorvaldsson, Sverrir, Manolio, Teri A., Thorgeirsson, Gudmundur, Kristjansson, Kristleifur, Hakonarson, Hakon, ...
Aims To examine the heritability of atrial fibrillation (AF) in Icelanders, utilizing a nationwide genealogy database and population-based data on AF. AF is a disorder with a high prevalence, which...
Hakonarson, Hakon, Bjornsdottir, Unnur S, Halapi, Eva, Bradfield, Jonathan, Zink, Florian, Mouy, Magali, ...
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Hakonarson, Hakon, Thorvaldsson, Sverrir, Helgadottir, Anna, Gudbjartsson, Daniel, Zink, Florian, Andresdottir, Margret, ...
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Thakkinstian, Ammarin, McEvoy, Mark, Helms, Peter Joseph, Hakonarson, Hakon, Halpi, Eva, Navon, Ruth, ...
A number of studies have investigated two common polymorphisms in the ß2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...
Thakkinstian, Ammarin, McEvoy, Mark, Helms, Peter Joseph, Hakonarson, Hakon, Halpi, Eva, Navon, Ruth, ...
A number of studies have investigated two common polymorphisms in the ß2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...
Thakkinstian, Ammarin, McEvoy, Mark, Minelli, Cosetta, Gibson, Peter, Hancox, Bob, Duffy, David, ...
A number of studies have investigated two common polymorphisms in the β2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...
Thakkinstian, Ammarin, McEvoy, Mark, Minelli, Cosetta, Gibson, Peter, Hancox, Bob, Duffy, David, ...
A number of studies have investigated two common polymorphisms in the β2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...
Thakkinstian, Ammarin, McEvoy, Mark, Minelli, Cosetta, Gibson, Peter, Hancox, Bob, Duffy, David, ...
A number of studies have investigated two common polymorphisms in the β2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...
Birkisson, Illugi F, Halapi, Eva, Bjornsdottir, Unnur S, Shkolny, Dana L, Adalsteinsdottir, Elva, Arnason, Thor, ...
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Helgadottir, Anna, Manolescu, Andrei, Thorleifsson, Gudmar, Gretarsdottir, Solveig, Jonsdottir, Helga, Thorsteinsdottir, Unnur, ...
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Laufs, Jürgen, Andrason, Hjalti, Sigvaldason, Andres, Halapi, Eva, Thorsteinsson, Leifur, Jónasson, Kristján, ...
BACKGROUND: Previous studies of vitamin D binding protein (VDBP, also known as group-specific component, Gc, encoded by the GC gene) have implicated two gene variants, GC*2 and GC*1F, as possible...
Gislason, Thorarinn, Johannsson, Johann Heidar, Haraldsson, Asgeir, Olafsdottir, Berglind Ran, Jonsdottir, Helga, Kong, Augustine, ...
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A major susceptibility gene for asthma maps to chromosome 14q24 (2002)
Hakonarson, Hakon, Bjornsdottir, Unnur S, Halapi, Eva, Palsson, Snaebjorn, Adalsteinsdottir, Elva, Gislason, David, ...
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Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Grunstein, Michael M.
CD4+ T helper (TH)1- and TH2-type cytokines reportedly play an important role in the pathobiology of asthma. Recent evidence suggests that proasthmatic changes in airway smooth muscle (ASM)...
Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Chuang, Sing, Grunstein, Michael M.
T-helper type 2 (Th2) cytokines have been implicated in the pathogenesis of the pulmonary inflammatory response and altered bronchial responsiveness in allergic asthma. To elucidate the mechanism of...
Hakonarson, Hakon, Bjornsdottir, Unnur S., Halapi, Eva, Bradfield, Jonathan, Zink, Florian, Mouy, Magali, ...
Gene expression profiles were examined in freshly isolated peripheral blood mononuclear cells (PBMC) from two independent cohorts (training and test sets) of glucocorticoid (GC)-sensitive (n = 64)...
A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24
Hakonarson, Hakon, Bjornsdottir, Unnur S., Halapi, Eva, Palsson, Snaebjorn, Adalsteinsdottir, Elva, Gislason, David, ...
Asthma is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. Numerous loci and candidate...
Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Grunstein, Michael M.
CD4+ T helper (TH)1- and TH2-type cytokines reportedly play an important role in the pathobiology of asthma. Recent evidence suggests that proasthmatic changes in airway smooth muscle (ASM)...
Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Chuang, Sing, Grunstein, Michael M.
T-helper type 2 (Th2) cytokines have been implicated in the pathogenesis of the pulmonary inflammatory response and altered bronchial responsiveness in allergic asthma. To elucidate the mechanism of...
Hakonarson, Hakon, Bjornsdottir, Unnur S., Halapi, Eva, Bradfield, Jonathan, Zink, Florian, Mouy, Magali, ...
Gene expression profiles were examined in freshly isolated peripheral blood mononuclear cells (PBMC) from two independent cohorts (training and test sets) of glucocorticoid (GC)-sensitive (n = 64)...
Grant, Struan F. A., Li, Mingyao, Bradfield, Jonathan P., Kim, Cecilia E., Annaiah, Kiran, Santa, Erin, ...
Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs9939609, within the FTO locus and obesity as a consequence of a genome wide association (GWA) study of...
Wang, Kai, Li, Mingyao, Hadley, Dexter, Liu, Rui, Glessner, Joseph, Grant, Struan F.A., ...
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous...
Keating, Brendan J., Tischfield, Sam, Murray, Sarah S., Bhangale, Tushar, Price, Thomas S., Glessner, Joseph T., ...
A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide...
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
Diskin, Sharon J., Li, Mingyao, Hou, Cuiping, Yang, Shuzhang, Glessner, Joseph, Hakonarson, Hakon, ...
Whole-genome microarrays with large-insert clones designed to determine DNA copy number often show variation in hybridization intensity that is related to the genomic position of the clones. We found...
Genomic Landscape of a Three-Generation Pedigree Segregating Affective Disorder
Yang, Shuzhang, Wang, Kai, Gregory, Brittany, Berrettini, Wade, Wang, Li-San, Hakonarson, Hakon, ...
Bipolar disorder (BPD) is a common psychiatric illness with a complex mode of inheritance. Besides traditional linkage and association studies, which require large sample sizes, analysis of common...
Modeling genetic inheritance of copy number variations
Wang, Kai, Chen, Zhen, Tadesse, Mahlet G., Glessner, Joseph, Grant, Struan F. A., Hakonarson, Hakon, ...
Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping...
Bucan, Maja, Abrahams, Brett S., Wang, Kai, Glessner, Joseph T., Herman, Edward I., Sonnenblick, Lisa I., ...
The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases,...
Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes
Qu, Hui-Qi, Grant, Struan F.A., Bradfield, Jonathan P., Kim, Cecilia, Frackelton, Edward, Hakonarson, Hakon, ...
OBJECTIVE—To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and...
Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., ...
Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., ...
Microarrays are frequently used to profile genome-wide copy number (CN) aberrations. While generally robust for detecting CN variants in germline DNA, the methods used to derive CN from signal...
Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease
Wang, Kai, Zhang, Haitao, Kugathasan, Subra, Annese, Vito, Bradfield, Jonathan P., Russell, Richard K., ...
Previous genome-wide association (GWA) studies typically focus on single-locus analysis, which may not have the power to detect the majority of genuinely associated loci. Here, we applied pathway...
Wei, Zhi, Wang, Kai, Qu, Hui-Qi, Zhang, Haitao, Bradfield, Jonathan, Kim, Cecilia, ...
Genome-wide association studies (GWAS) have been fruitful in identifying disease susceptibility loci for common and complex diseases. A remaining question is whether we can quantify individual...
Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene
Himes, Blanca E., Hunninghake, Gary M., Baurley, James W., Rafaels, Nicholas M., Sleiman, Patrick, Strachan, David P., ...
Asthma, a chronic airway disease with known heritability, affects more than 300 million people around the world. A genome-wide association (GWA) study of asthma with 359 cases from the Childhood...