Publications
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.
. Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. Hum Genet. 2019 ;138(2):199-210.
. Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease. PLoS One. 2019 ;14(5):e0216222.
. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat Genet. 2019 ;51(3):452-469.
. Additive genetic variation in the craniofacial skeleton of baboons (genus Papio) and its relationship to body and cranial size. Am J Phys Anthropol. 2018 ;165(2):269-285.
. Challenges of Francisella classification exemplified by an atypical clinical isolate. Diagn Microbiol Infect Dis. 2018 ;90(4):241-247.
. Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation. Medicine (Baltimore). 2018 ;97(33):e11865.
. Effects of Gender-Specific Differences, Inflammatory Response, and Genetic Variation on the Associations Among Depressive Symptoms and the Risk of Major Adverse Coronary Events in Patients With Acute Coronary Syndrome. Biol Res Nurs. 2018 ;20(2):168-176.
. Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk. J Am Coll Cardiol. 2018 ;72(15):1763-1773.
. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018 ;93(3):439-449.
. Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data. Ophthalmic Genet. 2018 ;39(2):291-292.
. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
. Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases. Clin Cancer Res. 2018 ;24(9):2182-2193.
. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;20(12):1528-1537.
. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2018 ;50(1):26-41.
. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 ;553(7686):77-81.
. The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders. Sci Transl Med. 2018 ;10(472).
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 ;97(1):49-59.
. Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. Am J Hum Genet. 2018 ;102(5):731-743.
. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation. Am J Hum Genet. 2017 ;101(6):888-902.
. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 ;49(12):1758-1766.
. An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes. 2017 ;66(11):2888-2902.
. Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. BMC Genomics. 2017 ;18(1):396.
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