Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.
Coronary Artery Bypass
Genetic Predisposition to Disease
Genome-Wide Association Study
Polymorphism, Single Nucleotide
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Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. Landstrom, AP; Dailey-Schwartz, AL; Rosenfeld, JA; Yang, Y; McLean, MJ; Miyake, CY; Valdes, SO; ... (11 authors) (Circulation. Arrhythmia and electrophysiology, 2017-04)BACKGROUND:The rapid expansion of genetic testing has led to increased utilization of clinical whole-exome sequencing (WES). Clinicians and genetic researchers are being faced with assessing risk of disease vulnerability ...
The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia. Lee, Young Mok; Pan, Chi-Jiunn; Koeberl, Dwight D; Mansfield, Brian C; Chou, Janice Y (Mol Genet Metab, 2013-11)Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, ...
Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study. Li, YJ; Martin, ER; Zhang, L; Allen, AS (BMC Genet, 2005-12-30)Association studies of quantitative traits have often relied on methods in which a normal distribution of the trait is assumed. However, quantitative phenotypes from complex human diseases are often censored, highly skewed, ...