Publications
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Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
. 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.
. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 ;8(3):258-267.
. Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nat Commun. 2023 ;14(1):6113.
. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.
. Investigating Gene-Diet Interactions Impacting the Association Between Macronutrient Intake and Glycemic Traits. Diabetes. 2023 ;72(5):653-665.
. 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.
. Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. Hum Mol Genet. 2022 ;31(22):3873-3885.
. 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.
. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. Am J Hum Genet. 2022 ;109(5):857-870.
. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.
. Rare coding variants in RCN3 are associated with blood pressure. BMC Genomics. 2022 ;23(1):148.
. Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea. Am J Respir Crit Care Med. 2022 ;206(10):1271-1280.
. TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. Am J Hum Genet. 2022 ;109(6):1175-1181.
. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.
. Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 ;13(1):5995.
. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nat Commun. 2022 ;13(1):7592.
. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.
. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.
. Epigenome-wide association study of mitochondrial genome copy number. Hum Mol Genet. 2021 ;31(2):309-319.
. Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure. Mol Psychiatry. 2021 ;26(11):6293-6304.
. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 ;373(6558):1030-1035.
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