Publications
Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 ;372(3):295-6.
. Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci. Hum Mol Genet. 2015 ;24(15):4464-79.
. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 ;12(7):1169-83.
. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015 ;518(7537):102-6.
. Factors associated with blood lead concentrations of children in Jamaica. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2015 ;50(6):529-39.
. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 ;167A(4):831-6.
. Fine mapping the region reveals a common intronic insertion associated to HDL-C. NPJ Aging Mech Dis. 2015 ;1:15011.
. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 ;88(3):499-513.
. A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study. Hum Mol Genet. 2015 ;24(8):2401-8.
. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949). Mol Psychiatry. 2015 ;20(2):183-92.
. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet. 2015 ;47(12):1415-25.
. Genetic overlap between diagnostic subtypes of ischemic stroke. Stroke. 2015 ;46(3):615-9.
. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 ;125(2):636-51.
. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 ;100(5):E808-14.
. Interaction between and allele variants as a risk modulating-factor for autism spectrum disorders. Res Autism Spectr Disord. 2015 ;12:1-9.
. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015 ;47(11):1294-1303.
. Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study. Atherosclerosis. 2015 ;241(2):641-8.
. Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 ;8(4):544-52.
. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 ;6:5897.
. Metabolomics and Incidence of Atrial Fibrillation in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study. PLoS One. 2015 ;10(11):e0142610.
. Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. Circ Cardiovasc Genet. 2015 ;8(2):398-409.
. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 ;16(1):214.
. PLD3 variants in population studies. Nature. 2015 ;520(7545):E2-3.
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