Publications
The 1000 Genomes Project: data management and community access. Nat Methods. 2012 ;9(5):459-62.
. A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. Diabetes Care. 2009 ;32(5):873-7.
. ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet. 2019 ;104(3):410-421.
. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 ;37(10):1155-1162.
. 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.
. Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing. PLoS One. 2012 ;7(3):e33036.
. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 ;9(4):e1003443.
. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 ;23(25):6797-806.
. Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast. Mol Biol Evol. 2019 ;36(9):1975-1989.
. APOA5 polymorphisms influence plasma triglycerides in young, healthy African Americans and whites of the CARDIA Study. J Lipid Res. 2005 ;46(3):564-71.
. Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):374-382.
. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014 ;94(2):223-32.
. Association studies for next-generation sequencing. Genome Res. 2011 ;21(7):1099-108.
. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 ;105(5):1005-1015.
. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 ;104(3):422-438.
. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 ;107(6):1096-1112.
. Calpain-10 is a component of the obesity-related quantitative trait locus Adip1. J Lipid Res. 2010 ;51(5):907-13.
. Carbohydrate intake modifies associations between ANGPTL4[E40K] genotype and HDL-cholesterol concentrations in White men from the Atherosclerosis Risk in Communities (ARIC) study. Atherosclerosis. 2009 ;203(1):214-20.
. A catalog of reference genomes from the human microbiome. Science. 2010 ;328(5981):994-9.
. Challenges of Francisella classification exemplified by an atypical clinical isolate. Diagn Microbiol Infect Dis. 2018 ;90(4):241-247.
. Characterization of cryptic flagellin genes in Shigella boydii and Shigella dysenteriae. Genes Genet Syst. 2001 ;76(2):111-20.
. Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta). BMC Genomics. 2011 ;12:311.
. Clan genomics and the complex architecture of human disease. Cell. 2011 ;147(1):32-43.
. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
. Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 ;135(6):591-601.
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