A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. RDM Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X | 10505* | 2012 |
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1269 | 2016 |
Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift P Cingolani, VM Patel, M Coon, T Nguyen, SJ Land, DM Ruden, X Lu Frontiers in genetics 3, 35, 2012 | 1039 | 2012 |
jFuzzyLogic: a java library to design fuzzy logic controllers according to the standard for fuzzy control programming P Cingolani, J Alcalá-Fdez International Journal of Computational Intelligence Systems 6 (sup1), 61-75, 2013 | 241 | 2013 |
jFuzzyLogic: a robust and flexible Fuzzy-Logic inference system language implementation P Cingolani, J Alcala-Fdez 2012 IEEE International Conference on Fuzzy Systems, 1-8, 2012 | 231 | 2012 |
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes AR Majithia, J Flannick, P Shahinian, M Guo, MA Bray, P Fontanillas, ... Proceedings of the National Academy of Sciences 111 (36), 13127-13132, 2014 | 181 | 2014 |
Epigenetics of early-life lead exposure and effects on brain development MC Senut, P Cingolani, A Sen, A Kruger, A Shaik, H Hirsch, ST Suhr, ... Epigenomics 4 (6), 665-674, 2012 | 141 | 2012 |
Lead exposure disrupts global DNA methylation in human embryonic stem cells and alters their neuronal differentiation MC Senut, A Sen, P Cingolani, A Shaik, SJ Land, DM Ruden Toxicological Sciences 139 (1), 142-161, 2014 | 125 | 2014 |
Wang le P Cingolani, A Platts L, 0 | 125 | |
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus A Mahajan, X Sim, HJ Ng, A Manning, MA Rivas, HM Highland, AE Locke, ... PLoS genetics 11 (1), e1004876, 2015 | 117 | 2015 |
Intronic non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees P Cingolani, X Cao, RS Khetani, CC Chen, M Coon, A Sammak, ... BMC genomics 14, 1-15, 2013 | 76 | 2013 |
Adjusted sequence kernel association test for rare variants controlling for cryptic and family relatedness K Oualkacha, Z Dastani, R Li, PE Cingolani, TD Spector, CJ Hammond, ... Genetic epidemiology 37 (4), 366-376, 2013 | 74 | 2013 |
Variant annotation and functional prediction: SnpEff P Cingolani Variant calling: methods and protocols, 289-314, 2012 | 73 | 2012 |
Lead exposure induces changes in 5-hydroxymethylcytosine clusters in CpG islands in human embryonic stem cells and umbilical cord blood A Sen, P Cingolani, MC Senut, S Land, A Mercado-Garcia, ... Epigenetics 10 (7), 607-621, 2015 | 66 | 2015 |
2012 512 Landes Bioscience P Cingolani, A Platts, LL Wang, M Coon, T Nguyen, L Wang Do not distribute, 2012 | 55 | 2012 |
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk A Manning, HM Highland, J Gasser, X Sim, T Tukiainen, P Fontanillas, ... Diabetes 66 (7), 2019-2032, 2017 | 54 | 2017 |
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff. Fly (Austin) 6: 80–92 P Cingolani, A Platts, LL Wang, M Coon, T Nguyen, L Wang, SJ Land, ... | 54 | 2012 |
An N-ethyl-N-nitrosourea (ENU)-induced dominant negative mutation in the JAK3 kinase protects against cerebral malaria SE Bongfen, IG Rodrigue-Gervais, J Berghout, S Torre, P Cingolani, ... PloS one 7 (2), e31012, 2012 | 43 | 2012 |
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees G Jun, A Manning, M Almeida, M Zawistowski, AR Wood, TM Teslovich, ... Proceedings of the National Academy of Sciences 115 (2), 379-384, 2018 | 41 | 2018 |
BigDataScript: a scripting language for data pipelines P Cingolani, R Sladek, M Blanchette Bioinformatics 31 (1), 10-16, 2015 | 41 | 2015 |