Publications
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Filters: Author is Mitchell, Braxton D [Clear All Filters]
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. Am J Hum Genet. 2020 ;106(1):112-120.
. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2021 ;591(7851):E27.
. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.
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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.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 ;224(4).
. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 ;.
. Genetic overlap between diagnostic subtypes of ischemic stroke. Stroke. 2015 ;46(3):615-9.
. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Hum Mol Genet. 2021 ;30(5):393-409.
. Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program. Am J Hum Genet. 2019 ;105(4):706-718.
. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension. 2022 ;79(8):1656-1667.
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Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 ;373(6558):1030-1035.
. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 ;55(1):154-164.
. Rare coding variants in RCN3 are associated with blood pressure. BMC Genomics. 2022 ;23(1):148.
. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.
. Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium. EBioMedicine. 2021 ;63:103157.
. 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.
. Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 ;32(6):1048-1060.
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