中文

Journal Publications

[1]Li K#, Xiao J#, Ling Z#, He X*, Xia K*, Cao Y*, Li J*, Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
[2]Wang Z#, Zhao G#, Li B*, Li J*, VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome.
[3]Luo T#, Hu Z*, Xia K*, Li J*, Association between de novo variants of nuclear-encoded mitochondrial related genes and undiagnosed developmental disorder and autism.
[4]Huang Y#, Li B*, Li J*, Risk factors associated with age at onset of Parkinson's disease in the UK Biobank.
[5]Wang X#, Xia K*, Li J*, Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension
[6]Li D, Li J*, Tang B*, Wang X*, Interactions of genetic risks for autism and the broad autism phenotypes.Front Psychiatry
[7]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
[8]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
[9]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
[10]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
[11]Jiang L#, Guo JF*, Li JC*, Telomere Length and COVID-19 Outcomes: A Two-Sample Bidirectional Mendelian Randomization Study.Front Genet
[12]Wang Y#, Zhao G#, Tang B*, Li J*, Genetic landscape of human mitochondrial genome using whole-genome sequencing.Hum Mol Genet
[13]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
[14]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
[15]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
[16]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
[17]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
[18]The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population.Brain
[19]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
[20]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

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Jinchen Li

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