Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Humans and Author is Montgomery, Stephen B  [Clear All Filters]
2021
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).
de Goede, O. M. et al. Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
2020
Liu, B. & Montgomery, S. B. Identifying causal variants and genes using functional genomics in specialized cell types and contexts. Hum Genet 139, 95-102 (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
2019
Frésard, L. et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
2017
Gottlieb, A. et al. Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans. Genome Med 9, 98 (2017).
McAllister, K. et al. Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases. Am J Epidemiol 186, 753-761 (2017).
Battle, A., Brown, C. D., Engelhardt, B. E. & Montgomery, S. B. Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
Li, X. et al. The impact of rare variation on gene expression across tissues. Nature 550, 239-243 (2017).
Ritchie, M. D. et al. Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions. Am J Epidemiol 186, 771-777 (2017).
Pala, M. et al. Population- and individual-specific regulatory variation in Sardinia. Nat Genet 49, 700-707 (2017).
Kernohan, K. D. et al. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat 38, 611-614 (2017).