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Jason Flannick
Jason Flannick
Assistant Professor of Pediatrics, Boston Children's Hospital
Dirección de correo verificada de broadinstitute.org - Página principal
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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
102622016
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
43762014
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
20252012
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
16662002
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12492016
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
5392014
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
4562015
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
4472014
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
4242018
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
4202018
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
4172015
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
4172006
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
3652005
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
3022013
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
2882019
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
2732014
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
2422022
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
2372014
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
1932016
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
1902013
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Artículos 1–20