Publications
Filters: Keyword is Genome-Wide Association Study [Clear All Filters]
Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. Pharmacogenet Genomics. 2018 ;28(1):7-16.
. . The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. J Med Genet. 2017 ;54(2):134-144.
. Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. PLoS One. 2019 ;14(6):e0218115.
. Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants. Alzheimers Dement. 2021 ;17(10):1663-1674.
. Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. Nat Genet. 2022 ;54(5):593-602.
. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 ;99(1):40-55.
. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 ;55(1):154-164.
. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 ;100(2):205-215.
. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat Genet. 2019 ;51(3):452-469.
. .
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.
. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 ;12(10):e1006327.
. Rare penetrant mutations confer severe risk of common diseases. Science. 2023 ;380(6648):eabo1131.
. 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.
. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
. On Robust Association Testing for Quantitative Traits and Rare Variants. G3 (Bethesda). 2016 ;6(12):3941-3950.
. Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. Circ Genom Precis Med. 2020 ;13(4):e002772.
. Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. Am J Hum Genet. 2019 ;105(5):1057-1068.
. Sex-specific epigenetic development in the mouse hypothalamic arcuate nucleus pinpoints human genomic regions associated with body mass index. Sci Adv. 2022 ;8(39):eabo3991.
. . . .