| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 14571* | 2015 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8238 | 2012 |
| Sequencing of 50 human exomes reveals adaptation to high altitude X Yi, Y Liang, E Huerta-Sanchez, X Jin, ZXP Cuo, JE Pool, X Xu, H Jiang, ... Science's STKE 329 (5987), 75, 2010 | 1718 | 2010 |
| Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA E Huerta-Sánchez, X Jin, Asan, Z Bianba, BM Peter, N Vinckenbosch, ... Nature 512 (7513), 194-197, 2014 | 1025 | 2014 |
| Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation JJ Michaelson, Y Shi, M Gujral, H Zheng, D Malhotra, X Jin, M Jian, G Liu, ... Cell 151 (7), 1431-1442, 2012 | 661 | 2012 |
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Y Jiang, RKC Yuen, X Jin, M Wang, N Chen, X Wu, J Ju, J Mei, Y Shi, ... The American Journal of Human Genetics 93 (2), 249-263, 2013 | 535 | 2013 |
| Lanosterol reverses protein aggregation in cataracts L Zhao, XJ Chen, J Zhu, YB Xi, X Yang, LD Hu, H Ouyang, SH Patel, X Jin, ... Nature 523 (7562), 607-611, 2015 | 465 | 2015 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 434 | 2014 |
| A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes I Moltke, N Grarup, ME Jørgensen, P Bjerregaard, JT Treebak, ... Nature 512 (7513), 190-193, 2014 | 410 | 2014 |
| The DNA methylome of human peripheral blood mononuclear cells Y Li, J Zhu, G Tian, N Li, Q Li, M Ye, H Zheng, J Yu, H Wu, J Sun, H Zhang, ... PLoS biology 8 (11), e1000533, 2010 | 391 | 2010 |
| Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants Y Li, N Vinckenbosch, G Tian, E Huerta-Sanchez, T Jiang, H Jiang, ... Nature genetics 42 (11), 969-972, 2010 | 376 | 2010 |
| TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing JL Wang, X Yang, K Xia, ZM Hu, L Weng, X Jin, H Jiang, P Zhang, L Shen, ... Brain 133 (12), 3510-3518, 2010 | 342 | 2010 |
| Building the sequence map of the human pan-genome R Li, Y Li, H Zheng, R Luo, H Zhu, Q Li, W Qian, Y Ren, G Tian, J Li, ... Nature biotechnology 28 (1), 57-63, 2010 | 289 | 2010 |
| A large-scale screen for coding variants predisposing to psoriasis H Tang, X Jin, Y Li, H Jiang, X Tang, X Yang, H Cheng, Y Qiu, G Chen, ... Nature genetics 46 (1), 45-50, 2014 | 238 | 2014 |
| Exome sequencing identifies ZNF644 mutations in high myopia Y Shi, Y Li, D Zhang, H Zhang, Y Li, F Lu, X Liu, F He, B Gong, L Cai, R Li, ... PLoS genetics 7 (6), e1002084, 2011 | 238 | 2011 |
| Genome-wide characteristics of de novo mutations in autism RKC Yuen, D Merico, H Cao, G Pellecchia, B Alipanahi, ... NPJ genomic medicine 1 (1), 1-10, 2016 | 232 | 2016 |
| Genomic analyses from non-invasive prenatal testing reveal genetic associations, patterns of viral infections, and Chinese population history S Liu, S Huang, F Chen, L Zhao, Y Yuan, SS Francis, L Fang, Z Li, L Lin, ... Cell 175 (2), 347-359. e14, 2018 | 213 | 2018 |
| Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility F Wang, S Huang, R Gao, Y Zhou, C Lai, Z Li, W Xian, X Qian, Z Li, ... Cell discovery 6 (1), 83, 2020 | 212 | 2020 |
| Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease F Zhou, H Cao, X Zuo, T Zhang, X Zhang, X Liu, R Xu, G Chen, Y Zhang, ... Nature genetics 48 (7), 740-746, 2016 | 200 | 2016 |
| New loci and coding variants confer risk for age-related macular degeneration in East Asians CY Cheng, K Yamashiro, L Jia Chen, J Ahn, L Huang, L Huang, ... Nature communications 6 (1), 6063, 2015 | 185 | 2015 |
Anders AlbrechtsenCopenhagen university, Bioinformatics CenterGeverifieerd e-mailadres voor binf.ku.dk
