Publications

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A
Dahl, A., Guillemot, V., Mefford, J., Aschard, H. & Zaitlen, N. Adjusting for Principal Components of Molecular Phenotypes Induces Replicating False Positives. Genetics 211, 1179-1189 (2019).
Raffield, L. M. et al. Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. Am J Hum Genet 106, 112-120 (2020).
Raffield, L. M. et al. Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. Am J Hum Genet 106, 112-120 (2020).
Raffield, L. M. et al. Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. Am J Hum Genet 106, 112-120 (2020).
Weghorn, D. et al. Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. Mol Biol Evol 36, 1701-1710 (2019).
DeBoever, C. et al. Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases. Am J Hum Genet 106, 611-622 (2020).
B
Claussnitzer, M. et al. A brief history of human disease genetics. Nature 577, 179-189 (2020).
C
Gottlieb, A. et al. Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans. Genome Med 9, 98 (2017).
Gottlieb, A. et al. Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans. Genome Med 9, 98 (2017).
Gottlieb, A. et al. Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans. Genome Med 9, 98 (2017).
Tanigawa, Y. et al. Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology. Nat Commun 10, 4064 (2019).
Caggiano, C. et al. Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nat Commun 12, 2717 (2021).
Sakaue, S. et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 53, 1415-1424 (2021).
Keys, K. L. et al. On the cross-population generalizability of gene expression prediction models. PLoS Genet 16, e1008927 (2020).
D
Verbanck, M., Chen, C. - Y., Neale, B. & Do, R. Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases. Nat Genet 50, 693-698 (2018).
Dennis, J. et al. 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).
Saito, Y. et al. Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function. Neuron 101, 707-720.e5 (2019).
Li, X. et al. 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).
E
Zaitlen, N. et al. The Effects of Migration and Assortative Mating on Admixture Linkage Disequilibrium. Genetics 205, 375-383 (2017).
Chen, H. et al. 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).
Nayar, K. et al. Elevated Polygenic Burden for Autism Spectrum Disorder Is Associated With the Broad Autism Phenotype in Mothers of Individuals With Autism Spectrum Disorder. Biol Psychiatry 89, 476-485 (2021).
Goleva, S. B., Lake, A. M., Torstenson, E. S., Haas, K. F. & Davis, L. K. Epidemiology of Functional Seizures Among Adults Treated at a University Hospital. JAMA Netw Open 3, e2027920 (2020).
Cassa, C. A. et al. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet 49, 806-810 (2017).
Kousi, M. et al. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet 52, 1145-1150 (2020).
Kousi, M. et al. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet 52, 1145-1150 (2020).
F
Qian, J. et al. A fast and scalable framework for large-scale and ultrahigh-dimensional sparse regression with application to the UK Biobank. PLoS Genet 16, e1009141 (2020).
G
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
McInnes, G. et al. Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics. Bioinformatics 35, 2495-2497 (2019).
Unlu, G. et al. GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. Am J Hum Genet 104, 503-519 (2019).
H
Martin, A. R. et al. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. Am J Hum Genet 100, 635-649 (2017).
Martin, A. R. et al. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. Am J Hum Genet 107, 788-789 (2020).
I
Dietlein, F. et al. Identification of cancer driver genes based on nucleotide context. Nat Genet 52, 208-218 (2020).
Bonder, M. Jan et al. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet 53, 313-321 (2021).
Frésard, L. et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
Frésard, L. et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
Li, X. et al. The impact of rare variation on gene expression across tissues. Nature 550, 239-243 (2017).
Li, X. et al. The impact of rare variation on gene expression across tissues. Nature 550, 239-243 (2017).
Amariuta, T. et al. Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements. Nat Genet 52, 1346-1354 (2020).
Ritchie, M. D. et al. Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions. Am J Epidemiol 186, 771-777 (2017).
Ritchie, M. D. et al. Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions. Am J Epidemiol 186, 771-777 (2017).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
L
Chun, S. et al. Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types. Nat Genet 49, 600-605 (2017).
M
DeBoever, C. et al. Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nat Commun 9, 1612 (2018).
DeBoever, C. et al. Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nat Commun 9, 1612 (2018).
Baldassari, A. R. et al. Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits. Circ Genom Precis Med 13, e002680 (2020).
N
Steinsaltz, D., Dahl, A. & Wachter, K. W. On Negative Heritability and Negative Estimates of Heritability. Genetics 215, 343-357 (2020).
Sohail, M. et al. Negative selection in humans and fruit flies involves synergistic epistasis. Science 356, 539-542 (2017).
P
Bastarache, L. et al. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).
Sohail, M. et al. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife 8, (2019).

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