Publications
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. Genet Med 22, 1191-1200 (2020).
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet 104, 260-274 (2019).
Efficient Estimation and Applications of Cross-Validated Genetic Predictions to Polygenic Risk Scores and Linear Mixed Models. J Comput Biol 27, 599-612 (2020).
The Effects of Migration and Assortative Mating on Admixture Linkage Disequilibrium. Genetics 205, 375-383 (2017).
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet 52, 969-983 (2020).
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. Front Neurol 10, 946 (2019).
Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies. Am J Hum Genet 108, 219-239 (2021).
Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function. Neuron 101, 707-720.e5 (2019).
Diagnostic Algorithms to Study Post-Concussion Syndrome Using Electronic Health Records: Validating a Method to Capture an Important Patient Population. J Neurotrauma 36, 2167-2177 (2019).
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases. Nat Genet 50, 693-698 (2018).
A deoxyribonuclease 1-like 3 genetic variant associates with asthma exacerbations. J Allergy Clin Immunol 147, 1095-1097.e10 (2021).
De novo pattern discovery enables robust assessment of functional consequences of non-coding variants. Bioinformatics 35, 1453-1460 (2019).
Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases. Am J Epidemiol 186, 753-761 (2017).
On the cross-population generalizability of gene expression prediction models. PLoS Genet 16, e1008927 (2020).
A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 53, 1415-1424 (2021).
Covariate selection for association screening in multiphenotype genetic studies. Nat Genet 49, 1789-1795 (2017).
Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nat Commun 12, 2717 (2021).
Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology. Nat Commun 10, 4064 (2019).
A common variant in PNPLA3 is associated with age at diagnosis of NAFLD in patients from a multi-ethnic biobank. J Hepatol 72, 1070-1081 (2020).
A common loss-of-function variant is associated with lower vitamin B concentration in African Americans. Blood 131, 2859-2863 (2018).
A Bootstrap Method for Goodness of Fit and Model Selection with a Single Observed Network. Sci Rep 9, 16674 (2019).
A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data. Nat Neurosci 22, 691-699 (2019).
Association between Smoking History and Tumor Mutation Burden in Advanced Non-Small Cell Lung Cancer. Cancer Res 81, 2566-2573 (2021).
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases. Am J Hum Genet 106, 611-622 (2020).
Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. Mol Biol Evol 36, 1701-1710 (2019).
Analysis in case-control sequencing association studies with different sequencing depths. Biostatistics 21, 577-593 (2020).
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. Am J Hum Genet 106, 112-120 (2020).
Adjusting for Principal Components of Molecular Phenotypes Induces Replicating False Positives. Genetics 211, 1179-1189 (2019).
ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet 104, 410-421 (2019).
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