| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data K Wang, M Li, H Hakonarson Nucleic acids research 38 (16), e164-e164, 2010 | 13751 | 2010 |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci A Franke, DPB McGovern, JC Barrett, K Wang, GL Radford-Smith, ... Nature genetics 42 (12), 1118-1125, 2010 | 3211 | 2010 |
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis S Sawcer, G Hellenthal, M Pirinen, CC Spencer, NA Patsopoulos, ... | 3062* | 2011 |
| Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations JZ Liu, S van Sommeren, H Huang, SC Ng, R Alberts, A Takahashi, ... Nature genetics 47 (9), 979-986, 2015 | 2660 | 2015 |
| Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2361 | 2010 |
| PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data K Wang, M Li, D Hadley, R Liu, J Glessner, SFA Grant, H Hakonarson, ... Genome research 17 (11), 1665-1674, 2007 | 2051 | 2007 |
| Autism genome-wide copy number variation reveals ubiquitin and neuronal genes JT Glessner, K Wang, G Cai, O Korvatska, CE Kim, S Wood, H Zhang, ... Nature 459 (7246), 569-573, 2009 | 1626 | 2009 |
| Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies C Dong, P Wei, X Jian, R Gibbs, E Boerwinkle, K Wang, X Liu Human molecular genetics 24 (8), 2125-2137, 2015 | 1167 | 2015 |
| Common genetic variants on 5p14. 1 associate with autism spectrum disorders K Wang, H Zhang, D Ma, M Bucan, JT Glessner, BS Abrahams, ... Nature 459 (7246), 528-533, 2009 | 1147 | 2009 |
| Rare variants create synthetic genome-wide associations SP Dickson, K Wang, I Krantz, H Hakonarson, DB Goldstein PLoS biology 8 (1), 34, 2010 | 1052 | 2010 |
| Pathway-based approaches for analysis of genomewide association studies K Wang, M Li, M Bucan The American Journal of Human Genetics 81 (6), 1278-1283, 2007 | 1049 | 2007 |
| Genotype, haplotype and copy-number variation in worldwide human populations M Jakobsson, SW Scholz, P Scheet, JR Gibbs, JM VanLiere, HC Fung, ... Nature 451 (7181), 998-1003, 2008 | 1033 | 2008 |
| InterVar: Clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines Q Li, K Wang The American Journal of Human Genetics 100 (2), 267-280, 2017 | 951 | 2017 |
| Analysing biological pathways in genome-wide association studies K Wang, M Li, H Hakonarson Nature Reviews Genetics 11 (12), 843-854, 2010 | 935 | 2010 |
| Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease MA Rivas, M Beaudoin, A Gardet, C Stevens, Y Sharma, CK Zhang, ... Nature genetics 43 (11), 1066-1073, 2011 | 900 | 2011 |
| Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study I Cleynen, G Boucher, L Jostins, LP Schumm, S Zeissig, T Ahmad, ... The Lancet 387 (10014), 156-167, 2016 | 877 | 2016 |
| Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR H Yang, K Wang Nature protocols 10 (10), 1556-1566, 2015 | 874 | 2015 |
| A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 737 | 2010 |
| Common variants at five new loci associated with early-onset inflammatory bowel disease M Imielinski, RN Baldassano, A Griffiths, RK Russell, V Annese, ... Nature genetics 41 (12), 1335-1340, 2009 | 586 | 2009 |
| Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing J O'Rawe, T Jiang, G Sun, Y Wu, W Wang, J Hu, P Bodily, L Tian, ... Genome medicine 5 (3), 28, 2013 | 551 | 2013 |
Hakon HakonarsonDirector, Center for Applied Genomics, CHOP, UPENN在 email.chop.edu 的电子邮件经过验证