中文

Journal Publications

[1]Li D, Li J*, Tang B*, Wang X*, Interactions of genetic risks for autism and the broad autism phenotypes.Front Psychiatry
[2]Dong L#, Xia L*, Xia K*, Li J*, Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.Acta Neuropathol.Acta Neuropathologica
[3]Jiao B#, Xiao X#, Li J*, Shen L*, Associations of risk genes with onset age and plasma biomarkers of Alzheimer's disease: a large case-control study in mainland China.Neuropsychopharmacology
[4]Li C#, Li J*, Tang Y*, Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.J Biol Chem
[5]Liu Z#, Zhao G#, Liang F*, Li J*, Tang B*, Profiling the Genome-Wide Landscape of Short Tandem Repeats by Long-Read Sequencing.Front Genet
[6]Jiang L#, Guo JF*, Li JC*, Telomere Length and COVID-19 Outcomes: A Two-Sample Bidirectional Mendelian Randomization Study.Front Genet
[7]Wang Y#, Zhao G#, Tang B*, Li J*, Genetic landscape of human mitochondrial genome using whole-genome sequencing.Hum Mol Genet
[8]Wang T#, Zhao T#, Li J*, Xia K*, Sun Z*, Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.EBioMedicine
[9]Li K#, Luo T#, He X*, Li J*, Zhao G*, Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.Nucleic Acids Res
[10]Cong P#, Bai W#, Li J#, Tang B*, Zheng H*, Yang M, Khederzadeh S, Gai S, Li N, Liu Y, Yu S, Zhao W, Liu J, Sun Y, Zhu X, Zhao P, Xia J, Guan P, Qian Y, Tao J, Xu L, Tian G, Wang P, Xie S, Qiu M, Liu K.Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.Nature communications
[11]Wang X#, Xia K*, Li J*, Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.J Autism Dev Disord
[12]Jinchen Li*, Kun Xia, Beisha Tang, Zhenghuan Fang, Zheng Wang, Bin Li, Kuokuo Li#, Guihu Zhao#.Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans[J].Nucleic Acids Res
[13]The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population.Brain
[14]Kun, Xin He, Lin Wang, Tingting Zhao, Yi Zhang, Leisheng Shi, Kun Zhang, Shanshan Hu#, Jinchen Li#.A comparative study of the genetic components of three subcategories of autism spectrum disorder[J].Mol Psychiatry
[15]Wang Z#, Zhao G#, Li J*, Li B, Fang Z, Chen Q, Wang X, Luo T, Wang Y, Zhou Q, Li K, Xia L, Zhang Y, Zhou X, Pan H, Zhao Y, Wang Y, Wang L, Guo J, Tang B, Xia K.Performance comparison of computational methods for the prediction of the function and pathogenicity of non-coding variants.Genomics Proteomics Bioinformatics
[16]Xianfeng, Huajing Teng, Tingting Zhao, Shanshan Hu, Yi Zhang, Kun Zhang, Leisheng Shi#, Jinchen Li#.Varcards: an integrated genetic and clinical database for coding variations in human genome[J].Nucleic Acids Res
[17]Ya, Shanshan Dong, Shanshan Hu, Meina Tang, Kun Zhang, Leisheng Shi, Hui Guo, Lin Wang#, Jinchen Li#.Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders[J].Mol Psychiatry
[18]Xia Ran, Qianzhi Shao, Xianfeng Li, Chao Chen, Xin He, Huiqian Chen, Yi Jiang, Tao Cai#, Jinchen Li#.Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database[J].Mol Psychiatry
[19]Jinchen Li#, Xia Ran#, Jinyu Wu*, Zhong Sheng Sun*, Zhongdong Lin, Huiqian Chen, Qianzhi Shao.EpilepsyGene: a genetic resource for genes and mutations related to epilepsy[J].Nucleic Acids Res
[20]Jiang Y#, Li J#, Wu J*, Sun ZS*, Wang T, Chen H, Xie Q, Shao Q, Ran X, Xia K.mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.Journal of Medical Genetics

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Jinchen Li

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