Publications
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Filters: Keyword is Humans and Author is Smith, Jennifer A [Clear All Filters]
Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance. Alzheimers Res Ther. 2024 ;16(1):14.
. Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 ;12(20):e029090.
. Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts. Neurology. 2023 ;100(18):e1930-e1943.
. Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI. Brain. 2023 ;146(2):492-506.
. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 ;110(10):1704-1717.
. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.
. Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 ;32(6):1048-1060.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension. 2022 ;79(8):1656-1667.
. Rare coding variants in RCN3 are associated with blood pressure. BMC Genomics. 2022 ;23(1):148.
. Rare Variants in Genes Encoding Subunits of the Epithelial Na Channel Are Associated With Blood Pressure and Kidney Function. Hypertension. 2022 ;79(11):2573-2582.
. Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts. Diabetes Care. 2022 ;45(3):674-683.
. Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 ;13(1):5995.
. Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2021 ;11(1):613.
. Epigenome-wide association study of mitochondrial genome copy number. Hum Mol Genet. 2021 ;31(2):309-319.
. Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. Mol Psychiatry. 2021 ;26(6):2111-2125.
. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 ;373(6558):1030-1035.
. Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries. Genetics. 2021 ;218(1).
. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.
. . Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nat Genet. 2020 ;52(12):1314-1332.
. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet. 2020 ;52(9):969-983.
. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
. Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. Circ Genom Precis Med. 2020 ;13(4):e002772.
. Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 ;104(2):260-274.
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