Publications

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D
Dietlein, F. et al. Identification of cancer driver genes based on nucleotide context. Nat Genet 52, 208-218 (2020).
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).
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. Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases. Am J Hum Genet 106, 611-622 (2020).
de Goede, O. M. et al. Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
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).
Dahl, A. et al. A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits. Am J Hum Genet 106, 71-91 (2020).
C
Contreras, M. G. et al. Native American Ancestry and Air Pollution Interact to Impact Bronchodilator Response in Puerto Rican Children with Asthma. Ethn Dis 31, 77-88 (2021).
Claussnitzer, M. et al. A brief history of human disease genetics. Nature 577, 179-189 (2020).
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).
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).
Chen, S. & Onnela, J. - P. A Bootstrap Method for Goodness of Fit and Model Selection with a Single Observed Network. Sci Rep 9, 16674 (2019).
Chen, S. & Lin, X. Analysis in case-control sequencing association studies with different sequencing depths. Biostatistics 21, 577-593 (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).
Caggiano, C. et al. Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nat Commun 12, 2717 (2021).
C Y Mak, A. et al. Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand and Gene-By-Air-Pollution Interaction. Genetics 215, 869-886 (2020).
B
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).
Boix, C. A., James, B. T., Park, Y. P., Meuleman, W. & Kellis, M. Regulatory genomic circuitry of human disease loci by integrative epigenomics. Nature 590, 300-307 (2021).
Belbin, G. Morven et al. Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. Elife 6, (2017).
Belbin, G. M., Nieves-Colón, M. A., Kenny, E. E., Moreno-Estrada, A. & Gignoux, C. R. Genetic diversity in populations across Latin America: implications for population and medical genetic studies. Curr Opin Genet Dev 53, 98-104 (2018).
Bastarache, L. et al. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).
Barnett, I., Mukherjee, R. & Lin, X. The Generalized Higher Criticism for Testing SNP-Set Effects in Genetic Association Studies. J Am Stat Assoc 112, 64-76 (2017).
Barfield, R. et al. Testing for the indirect effect under the null for genome-wide mediation analyses. Genet Epidemiol 41, 824-833 (2017).
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).
A
Asgari, S. et al. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Aschard, H. et al. Covariate selection for association screening in multiphenotype genetic studies. Nat Genet 49, 1789-1795 (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).
Amar, D., Sinnott-Armstrong, N., Ashley, E. A. & Rivas, M. A. Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks. Nat Commun 12, 350 (2021).
Aguirre, M., Rivas, M. A. & Priest, J. Phenome-wide Burden of Copy-Number Variation in the UK Biobank. Am J Hum Genet 105, 373-383 (2019).
Aguirre, M. et al. Polygenic risk modeling with latent trait-related genetic components. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00813-0
Abul-Husn, N. S. et al. Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Med 12, 2 (2019).
Abul-Husn, N. S. & Kenny, E. E. Personalized Medicine and the Power of Electronic Health Records. Cell 177, 58-69 (2019).

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