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| Transcriptomic signatures across human tissues identify functional rare genetic variation NM Ferraro, BJ Strober, J Einson, NS Abell, F Aguet, AN Barbeira, ... Science 369 (6509), eaaz5900, 2020 | 117 | 2020 |
| Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease OM de Goede, DC Nachun, NM Ferraro, MJ Gloudemans, AS Rao, ... Cell 184 (10), 2633-2648. e19, 2021 | 112 | 2021 |
| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2016 | 100 | 2016 |
| Modeling RNA-binding protein specificity in vivo by precisely registering protein-RNA crosslink sites H Feng, S Bao, MA Rahman, SM Weyn-Vanhentenryck, A Khan, J Wong, ... Molecular cell 74 (6), 1189-1204. e6, 2019 | 82 | 2019 |
| Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders X Han, S Chen, E Flynn, S Wu, D Wintner, Y Shen Nature communications 9 (1), 2138, 2018 | 36 | 2018 |
| Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience T Gall, E Valkanas, C Bello, T Markello, C Adams, WP Bone, AJ Brandt, ... Frontiers in medicine 4, 62, 2017 | 36 | 2017 |
| The impact of sex on gene expression across human tissues F Aguet, AR Hamel, F Hormozdiari, AV Segrè, KG Ardlie, GA Getz, X Li, ... Science 369 (6509), eaba3066-eaba3066, 2020 | 28 | 2020 |
| Phenotypic evolution of UNC80 loss of function E Valkanas, K Schaffer, C Dunham, V Maduro, C du Souich, R Rupps, ... American Journal of Medical Genetics Part A 170 (12), 3106-3114, 2016 | 25 | 2016 |
| Transcription factor regulation of eQTL activity across individuals and tissues ED Flynn, AL Tsu, S Kasela, S Kim-Hellmuth, F Aguet, KG Ardlie, ... PLoS Genetics 18 (1), e1009719, 2022 | 20 | 2022 |
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| Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience EMJ Lee, K Xu, E Mosbrook, A Links, J Guzman, DR Adams, E Flynn, ... Genetics in Medicine 18 (12), 1303-1307, 2016 | 16 | 2016 |
| Functional characterization of genetic variant effects on expression ED Flynn, T Lappalainen Annual Review of Biomedical Data Science 5, 119-139, 2022 | 10 | 2022 |
| Decoding the Variant-to-Function Relationship for LIPA, a Risk Locus for CAD F Li, E Flynn, J Shi, X Wu, Z Wang, C Xue, H Cheng, Y Meng, J Cui, Y Zhu, ... bioRxiv, 2022.11. 12.516293, 2022 | 1 | 2022 |
| Decoding the Variant-to-Function Relationship forLIPA, a Risk Locus for CAD F Li, E Flynn, J Shi, X Wu, Z Wang, C Xue, H Cheng, Y Meng, J Cui, Y Zhu, ... | | 2022 |
| Elucidating the Variant-to-Function Relationship for LIPA, a Risk Locus of Coronary Artery Diseases F Li, E Flynn, C Xue, Y Meng, Z Wang, X Wu, S Li, J Cui, J Shi, ... Circulation 144 (Suppl_1), A10865-A10865, 2021 | | 2021 |
| Genetic regulatory variant effects across tissues and individuals ED Flynn Columbia University, 2021 | | 2021 |
| Coronary Artery Disease-associated Genetic Variants Increased Lipa Expression and Overexpression of Lipa Induced Atherogenic Phenotypes in Macrophages F Li, J Shi, C Xue, E Flynn, H Pan, Z Gu, T Evans, MP Reilly, D Saleheen, ... Arteriosclerosis, Thrombosis, and Vascular Biology 39 (Suppl_1), A580-A580, 2019 | | 2019 |
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