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Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of(More)
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 association studies (GWAS). True complex disease-associated loci often exert modest effects, so their delineation currently requires integration of diverse(More)
PURPOSE Adverse drug events, especially those that may have been preventable, are among the most serious concerns about medication use in nursing homes. We studied the incidence and preventability of adverse drug events and potential adverse drug events in nursing homes. METHODS We performed a cohort study of all long-term care residents of 18(More)
Pathway-based association methods have been proposed to be an effective approach in identifying disease genes, when single-marker association tests do not have sufficient power. The analysis of quantitative traits may be benefited from these approaches, by sampling from two extreme tails of the distribution. Here we tested a pathway association approach on(More)
Genome-wide association studies (GWAS) have successfully identified loci associated with quantitative traits, such as blood lipids. Deep resequencing studies are being utilized to catalogue the allelic spectrum at GWAS loci. The goal of these studies is to identify causative variants and missing heritability, including heritability due to low frequency and(More)
Transcriptional elongation is critical for gene expression regulation during embryogenesis. The super elongation complex (SEC) governs this process by mobilizing paused RNA polymerase II (RNAP2). Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically(More)
It is common knowledge that a misaligned rotating system exhibits vibration, and that the more misaligned a system is, the more it vibrates. The aim of this paper is to present a methodology by which the misalignment condition of a motor-dynamometer system can be predicted by an artificial neural network. Vibration data was measured at 10 positions for 23(More)
This paper presents the results of the second phase of a Maintenance and Reliability Center funded research project to examine the characteristics of misalignment of rotating machinery. Phase one of this research determined that there is no measurable decrease in motor efficiency correlated to motor misalignment when the tested couplings were operated(More)
Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review(More)
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