Publications
Filters: Author is Boerwinkle, Eric [Clear All Filters]
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.
. Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. PLoS One. 2014 ;9(10):e109155.
. Serum metabolomic profiling and incident CKD among African Americans. Clin J Am Soc Nephrol. 2014 ;9(8):1410-7.
. Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm. 2014 ;11(3):452-7.
. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014 ;9(10):e110740.
. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 ;164A(9):2328-34.
. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 ;9(4):e1003443.
. APOE modulates the correlation between triglycerides, cholesterol, and CHD through pleiotropy, and gene-by-gene interactions. Genetics. 2013 ;195(4):1397-405.
. Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. Circ Cardiovasc Genet. 2013 ;6(1):82-8.
. Associations between metabolomic compounds and incident heart failure among African Americans: the ARIC Study. Am J Epidemiol. 2013 ;178(4):534-42.
. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013 ;8(7):e68095.
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