This genetic epidemiology study uses mendelian randomization to investigate associations between maternal body mass index and glucose and lipid levels and offspring birth weight between 1929 and 2013.
This Viewpoint discusses the values of teaching genetics in the first year of medical school.
This genome-wide association study identifies single-nucleotide polymorphisms that influence the association between use of aspirin, nonsteroidal anti-inflammatory drugs, or both and colorectal cancer.
This genome-wide association study performed among children with acute lymphoblastic leukemia (ALL) found that an inherited polymorphism in the promoter region of CEP72 was associated with increased risk and severity of vincristine-related peripheral neuropathy.
Lee and coauthors report on initial clinical indications for clinical exome sequencing referrals and molecular diagnostic rates for different indications and for different test types.
This observation trial reports that whole-exome sequencing provides a potential molecular diagnosis for patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations, contributing to disease.
This Mendelian randomization study reports that genetic predisposition to elevated low-density lipoprotein cholesterol was associated with presence of aortic valve calcium and incidence of aortic stenosis.
To determine the molecular basis of multiple respiratory chain complex deficiencies, Taylor and coauthors used a whole-exome sequencing approach in 53 patients with biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation.
Dewey and colleagues found that depending on the sequencing platform used, there was incomplete coverage of inherited disease genes, low reproducibility of potentially clinically significant genetic variation, and uncertainty about clinically reportable findings.
To identify genetic determinants of coronary heart disease (CHD) that are specific to diabetic patients, Qi and coauthors studied 5 independent sets of CHD cases and non-CHD controls to identify genetic variants related to metabolism.