Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016 | 10250 | 2016 |
Age-related clonal hematopoiesis associated with adverse outcomes S Jaiswal, P Fontanillas, J Flannick, A Manning, PV Grauman, BG Mar, ... New England Journal of Medicine 371 (26), 2488-2498, 2014 | 4372 | 2014 |
Patterns and rates of exonic de novo mutations in autism spectrum disorders BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ... Nature 485 (7397), 242-245, 2012 | 2022 | 2012 |
Sequential pattern mining using a bitmap representation J Ayres, J Flannick, J Gehrke, T Yiu Proceedings of the eighth ACM SIGKDD international conference on Knowledge …, 2002 | 1664 | 2002 |
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1249 | 2016 |
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes J Flannick, G Thorleifsson, NL Beer, SBR Jacobs, N Grarup, NP Burtt, ... Nature genetics 46 (4), 357-363, 2014 | 539 | 2014 |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ... Science translational medicine 7 (270), 270ra6-270ra6, 2015 | 453 | 2015 |
Distribution and medical impact of loss-of-function variants in the Finnish founder population ET Lim, P Würtz, AS Havulinna, P Palta, T Tukiainen, K Rehnström, ... PLoS genetics 10 (7), e1004494, 2014 | 444 | 2014 |
Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: a soft clustering analysis MS Udler, J Kim, M von Grotthuss, S Bonàs-Guarch, JB Cole, J Chiou, ... PLoS medicine 15 (9), e1002654, 2018 | 422 | 2018 |
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes A Mahajan, J Wessel, SM Willems, W Zhao, NR Robertson, AY Chu, ... Nature genetics 50 (4), 559-571, 2018 | 419 | 2018 |
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci KJ Gaulton, T Ferreira, Y Lee, A Raimondo, R Mägi, ME Reschen, ... Nature genetics 47 (12), 1415-1425, 2015 | 417 | 2015 |
Graemlin: general and robust alignment of multiple large interaction networks J Flannick, A Novak, BS Srinivasan, HH McAdams, S Batzoglou Genome research 16 (9), 1169-1181, 2006 | 417 | 2006 |
MAFIA: A maximal frequent itemset algorithm D Burdick, M Calimlim, J Flannick, J Gehrke, T Yiu IEEE transactions on knowledge and data engineering 17 (11), 1490-1504, 2005 | 365 | 2005 |
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders ET Lim, S Raychaudhuri, SJ Sanders, C Stevens, A Sabo, DG MacArthur, ... Neuron 77 (2), 235-242, 2013 | 302 | 2013 |
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls J Flannick, JM Mercader, C Fuchsberger, MS Udler, A Mahajan, J Wessel, ... Nature 570 (7759), 71-76, 2019 | 286 | 2019 |
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population K Estrada, I Aukrust, L Bjørkhaug, NP Burtt, JM Mercader, H García-Ortiz, ... Jama 311 (22), 2305-2314, 2014 | 273 | 2014 |
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants KG Aragam, T Jiang, A Goel, S Kanoni, BN Wolford, DS Atri, EM Weeks, ... Nature genetics 54 (12), 1803-1815, 2022 | 240 | 2022 |
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, ... The American Journal of Human Genetics 94 (2), 233-245, 2014 | 237 | 2014 |
Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes M Imamura, A Takahashi, T Yamauchi, K Hara, K Yasuda, N Grarup, ... Nature communications 7 (1), 10531, 2016 | 193 | 2016 |
Evaluating empirical bounds on complex disease genetic architecture V Agarwala, J Flannick, S Sunyaev, GoT2D Consortium, D Altshuler Nature genetics 45 (12), 1418-1427, 2013 | 190 | 2013 |