- [1]Liang Y#, Ou J, Fu J, Wang Y, Li Y*, Li J*, Yi Y*.Smoking, Genetic Susceptibility and Early Menopause: Unveiling Biological Mechanisms and Potential Therapy Targets.BJOG-An international journal of obstetrics and gynaecology, 2024
- [2]Luo T#, Pan J, Zhu Y, Wang X, Li K, Zhao G, Li B, Hu Z,* Xia K*, Li J*.Association between de novo variants of nuclear-encoded mitochondrial related genes and undiagnosed developmental disorder and autism.QJM-An international journal of medicine, 2024
- [3]Wang Z#, Zhao G#, Zhu Z, Wang Y, Xiang X, Zhang S, Luo T, Zhou Q, Qiu J, Tang B, Xia K, Li B*, Li J*.VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome..Nucleic Acids Research, 2024
- [4]Huang Y#, Chen Q, Wang Z, Wang Y, Lian A, Zhou Q, Zhao G, Xia K, Tang B, Li B*, Li J*.Risk factors associated with age at onset of Parkinson's disease in the UK Biobank.NPJ Parkinson's Disease, 2024
- [5]Li K#, Xiao J#, Ling Z#, Luo T, Xiong J, Chen Q, Dong L, Wang Y, Wang X, Jiang Z, Xia L, Yu Z, Hua R, Guo R, Tang D, Lv M, Lian A, Li B, Zhao G, He X*, Xia K*, Cao Y*, Li J*.Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.EBioMedicine, 2024
- [6]Yi Y#, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J*, Li Y*, Zhao J*.Association between ovarian reserve and spontaneous miscarriage and their shared genetic architecture.Human Reproduction, 2023
- [7]Dong L#, Wang Y, Wang X, Luo T, Zhou Q, Zhao G, Li B, Xia L*, Xia K*, Li J*.Interactions of genetic risks for autism and the broad autism phenotypes.Frontiers in Psychiatry, 2023
- [8]Ding X#, Chen Y, Guo C, Fu Y, Qin C, Zhu Q, Wang J, Zhang R, Tian H, Feng R, Liu H, Liang D, Wang G, Teng J, Li J*, Tang B*, Wang X*.Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.Acta Neuropathologica, 2023
- [9]Wang X#, Ling Z#, Luo T, Zhou Q, Zhao G, Li B, Xia K*, Li J*.Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.Journal of Autism and Developmental Disorders, 2022
- [10]Li K#, Luo T#, Zhu Y, Huang Y, Wang A, Zhang D, Dong L, Wang Y, Wang R, Tang D, Yu Z, Shen Q, Lu M, Ling Z, Fang Z, Yuan J, Li B, Xia K, He X*, Li J*, Zhao G*.Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.Nucleic Acids Research, 2022
- [11]Wang Y#, Zhao G#, Fang Z, Pan H, Zhao Y, Wang Y, Zhou X, Wang X, Luo T, Zhang Y, Wang Z, Chen Q, Dong L, Huang Y, Zhou Q, Xia L, Li B, Guo J, Xia K, Tang B*, Li J*.Genetic landscape of human mitochondrial genome using whole genome sequencing.Human Molecular Genetics, 2022
- [12]Wang T#, Zhao T#, Liu L, Teng H, Fan T, Li Y, Wang Y, Li J*, Xia K*, Sun Z*.Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.EBioMedicine, 2022
- [13]Cong P#, Bai W#, Li J#, 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, Tang B*, Zheng H*.Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.Nature communications, 2022
- [14]Jiang L#, Tang B, Guo J*, Li J*.Telomere Length and COVID-19 Outcomes: A Two-Sample Bidirectional Mendelian Randomization Study.Frontiers in Genetics, 2022
- [15]Liu Z#, Zhao G#, Xiao Y#, Zeng S, Yuan Y, Zhou X, Fang Z, He R, Li B, Zhao Y, Pan H, Wang Y, Yu G, Peng IF, Wang D, Meng Q, Xu Q, Sun Q, Yan X, Shen L, Jiang H, Xia K, Wang J, Guo J, Liang F*, Li J*, Tang B*.Profiling the Genome-Wide Landscape of Short Tandem Repeats by Long-Read Sequencing.Frontiers in Genetics, 2022
- [16]Li C#, Chen Q#, Wu J, Ren J, Zhang M, Wang H, Li J*, Tang Y*.Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.Journal of biological chemistry, 2022
- [17]Wang Z#, Zhao G#, 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, Li J*.Performance comparison of computational methods for the prediction of the function and pathogenicity of non-coding variants.Genomics Proteomics Bioinformatics, 2022
- [18]Jiao B#, Xiao X#, Yuan Z, Guo L, Liao X, Zhou Y, Zhou L, Wang X, Liu X, Liu H, Jiang Y, Lin Z, Zhu Y, Yang Q, Zhang W, 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, 2022
- [19]Huang S#, Zhao G#, Wu J, Li K, Wang Q, Fu Y, Zhang H, Bi Q, Li X, Wang W, Guo C, Zhang D, Wu L, Li X, Xu H, Han M, Wang X, Lei C, Qiu X, Li Y, Li J*, Dai P*, Yuan Y*.Gene4HL: An Integrated Genetic Database for Hearing Loss.Frontiers in Genetics, 2021
- [20]Li K#, Ling Z#, Luo T, Zhao G, Zhou Q, Wang X, Xia K, Li J*, Li B*.Cross-disorder analysis of de novo variants increases the power of prioritising candidate genes.Life (Basel), 2021