| Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database J Li, T Cai, Y Jiang, H Chen, X He, C Chen, X Li, Q Shao, X Ran, Z Li, ... Molecular psychiatry 21 (2), 290-297, 2016 | 227 | 2016 |
| Performance evaluation of pathogenicity-computation methods for missense variants J Li, T Zhao, Y Zhang, K Zhang, L Shi, Y Chen, X Wang, Z Sun Nucleic acids research 46 (15), 7793-7804, 2018 | 190 | 2018 |
| VarCards: an integrated genetic and clinical database for coding variants in the human genome J Li, L Shi, K Zhang, Y Zhang, S Hu, T Zhao, H Teng, X Li, Y Jiang, L Ji, ... Nucleic Acids Research 46 (D1), D1039-D1048, 2018 | 161 | 2018 |
| Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor QY Sun, Q Xu, Y Tian, ZM Hu, LX Qin, JX Yang, W Huang, J Xue, JC Li, ... Brain 143 (1), 222-233, 2020 | 148 | 2020 |
| Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect Y Zhang, N Li, C Li, Z Zhang, H Teng, Y Wang, T Zhao, L Shi, K Zhang, ... Translational psychiatry 10 (1), 4, 2020 | 143 | 2020 |
| The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population Y Zhao, L Qin, H Pan, Z Liu, L Jiang, Y He, Q Zeng, X Zhou, X Zhou, ... Brain 143 (7), 2220-2234, 2020 | 111 | 2020 |
| Mutations in WNT10B are identified in individuals with oligodontia P Yu, W Yang, D Han, XI Wang, S Guo, J Li, F Li, X Zhang, SW Wong, ... The American Journal of Human Genetics 99 (1), 195-201, 2016 | 105 | 2016 |
| Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders J Li, L Wang, H Guo, L Shi, K Zhang, M Tang, S Hu, S Dong, Y Liu, ... Molecular psychiatry 22 (9), 1282-1290, 2017 | 91 | 2017 |
| EpilepsyGene: a genetic resource for genes and mutations related to epilepsy X Ran, J Li, Q Shao, H Chen, Z Lin, ZS Sun, J Wu Nucleic acids research 43 (D1), D893-D899, 2015 | 84 | 2015 |
| Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy S Zeng, M Zhang, X Wang, Z Hu, J Li, N Li, J Wang, F Liang, Q Yang, ... Journal of medical genetics 56 (4), 265-270, 2019 | 83 | 2019 |
| PAK2 haploinsufficiency results in synaptic cytoskeleton impairment and autism-related behavior Y Wang, C Zeng, J Li, Z Zhou, X Ju, S Xia, Y Li, A Liu, H Teng, K Zhang, ... Cell reports 24 (8), 2029-2041, 2018 | 80 | 2018 |
| Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans G Zhao, K Li, B Li, Z Wang, Z Fang, X Wang, Y Zhang, T Luo, Q Zhou, ... Nucleic acids research 48 (D1), D913-D926, 2020 | 57 | 2020 |
| Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene T Cai, L Yang, W Cai, S Guo, P Yu, J Li, X Hu, M Yan, Q Shao, Y Jin, ... Proceedings of the National Academy of Sciences 112 (26), 8064-8069, 2015 | 45 | 2015 |
| Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing J Wu, P Yu, X Jin, X Xu, J Li, Z Li, M Wang, T Wang, X Wu, Y Jiang, W Cai, ... Journal of genetics and genomics 45 (10), 527-538, 2018 | 41 | 2018 |
| RRBS‐A nalyser: A Comprehensive W eb Server for Reduced Representation Bisulfite Sequencing Data Analysis T Wang, Q Liu, X Li, X Wang, J Li, X Zhu, ZS Sun, J Wu Human mutation 34 (12), 1606-1610, 2013 | 41 | 2013 |
| Constant light exposure alters gut microbiota and promotes the progression of steatohepatitis in high fat diet rats L Wei, F Yue, L Xing, S Wu, Y Shi, J Li, X Xiang, SM Lam, G Shui, ... Frontiers in Microbiology 11, 1975, 2020 | 39 | 2020 |
| Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project PK Cong, WY Bai, JC Li, MY Yang, S Khederzadeh, SR Gai, N Li, YH Liu, ... Nature Communications 13 (1), 2939, 2022 | 38 | 2022 |
| CirGRDB: a database for the genome-wide deciphering circadian genes and regulators X Li, L Shi, K Zhang, W Wei, Q Liu, F Mao, J Li, W Cai, H Chen, H Teng, ... Nucleic acids research 46 (D1), D64-D70, 2018 | 35 | 2018 |
| DNA 5-methylcytosine detection and methylation phasing using PacBio circular consensus sequencing P Ni, F Nie, Z Zhong, J Xu, N Huang, J Zhang, H Zhao, Y Zou, Y Huang, ... Nature communications 14 (1), 4054, 2023 | 31 | 2023 |
| A statistical framework for mapping risk genes from de novo mutations in whole-genome-sequencing studies Y Liu, Y Liang, AE Cicek, Z Li, J Li, RA Muhle, M Krenzer, Y Mei, Y Wang, ... The American Journal of Human Genetics 102 (6), 1031-1047, 2018 | 30 | 2018 |
