Publications
Filters: Author is Boerwinkle, Eric [Clear All Filters]
Blood lead concentrations in Jamaican children with and without autism spectrum disorder. Int J Environ Res Public Health. 2014 ;12(1):83-105.
. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 ;159(1):200-214.
. Epistasis analysis for quantitative traits by functional regression model. Genome Res. 2014 ;24(6):989-98.
. Following-up genome-wide association study signals: lessons learned from Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):332-4.
. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
. Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS One. 2014 ;9(8):e104452.
. Genetic determinants influencing human serum metabolome among African Americans. PLoS Genet. 2014 ;10(3):e1004212.
. Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study. Genet Epidemiol. 2014 ;38(8):709-13.
. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014 ;9(6):e94661.
. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Pharmacogenomics J. 2014 ;14(1):35-40.
. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
. Human metabolome associates with dietary intake habits among African Americans in the atherosclerosis risk in communities study. Am J Epidemiol. 2014 ;179(12):1424-33.
. In silico tools for splicing defect prediction: a survey from the viewpoint of end users. Genet Med. 2014 ;16(7):497-503.
. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 ;15:30.
. Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program. Atherosclerosis. 2014 ;235(1):84-93.
. Metabolomic patterns and alcohol consumption in African Americans in the Atherosclerosis Risk in Communities Study. Am J Clin Nutr. 2014 ;99(6):1470-8.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 ;23(21):5774-80.
. No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects. PLoS One. 2014 ;9(12):e111156.
. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 ;95(1):96-107.
. Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. PLoS One. 2014 ;9(1):e84810.
. Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study. PLoS One. 2014 ;9(12):e113203.
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