- [1]Qiu R#, Rao X, Jiang H, Li J*, Zhao G*.DeNovoSeer:a deep learning framework for pathogenicity prediction of De novo mutations.Briefings in Bioinformatics, 2026
- [2]Xia L#, Guo H#, Liu R#, Ren X, Han S, Huang X, Peng Y, Zhu Y, Huang Y, Jiang Z, Zhu T, Luo T, Wang Z, Zhou X, Li X, Zhu Y, Bai T, Tian Q, Hu Z, Zhou M, Jiang Q, Shen Y, Ou J, Zhu Y, Zhou Q, Pan Q, Wang T, Guo H, Tang B, Hu Z*, Li J*, Xia K*.Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.Science Advances, 2026
- [3]Li J*#, Luo T#, Ren X#, Yang S, Quan H, Zhu Y, Tan S, Jia X, Yu P, Huang Y, Jiang Z, Xiang X, Guo H, Zhu T, Hu Z, Zhou M, Zhang Q, Li Y, Gong H, Liu R, He M, Zhou X, Han D, Wang Z, Bai T, Jian X, Zhao G, Li B, Shen Y, Ou J, Pan Q, Wang T, Guo H, Hu Z, Tang B, Xia L*, Xia K*.Haplotype-Resolved Long-Read Sequencing Reveals Parent-of-Origin Effects of Tandem-Repeat Variation in Autism Spectrum Disorder.Science Bulletin, 2026
- [4]Jian X#*, Yu P#, Zhang Y, Pan H, Wu K, Zhang H, Zhang H, Huang Y, Zhao Y, Wang Y, Wang Y, Zhou Q, Zhang X, Zhao G, Li B, Guo J, Xia K, Tang B*, Li J*.Large-scale profiling of blood microbial signatures in patientswith Parkinson's disease and its association with disease progression: a cross-sectional study.EBioMedicine, 2026
- [5]Pan L#, Wu J#, Zhang Y, Liang D, Yuan J, Wang J, Shen Y, Lu J, Xia A, Zhang Z*, Li J*, Li Z*, Wu L*.Low-Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses.Prenatal Diagnosis, 2026
- [6]Zhu Y#, Xiao X#, Liu Y, Wang Z, Luo T, Xu T, Yang Q, Hao X, Zhang C, Zhang S, Luo S, Zhou Y, Liao X, Tian Y, Weng L, Fang L, Tang B, Jian B, Li J*, Shen L*.Short tandem repeat expansions in patients with neurodegenerative dementia.EBioMedicine, 2026
- [7]Yang S#, Zhu Y#, Yu P, Huang Y, Wang Z, Wang Y, Zhou Q, Zhang Y, Li B, Zhao G, Guo J, Xia K, Tang B, Li J*.Dysfunctional alternative polyadenylation modifies the penetrance of LRRK2 variants in Parkinson's Disease.Movement Disorders, 2026
- [8]Xiang X#, Mao X, Luo T, Liu C, Li B, Yu P, Zhang Y, Wu D, Wang Y, Zhou Q, Zhu Y, Li B, Xia K, Zhao G*, Li J*.Enhancing interpretation of clinical disease-associated copy number variations from multiple sequencing strategies with CNVSeeker.Bioinformatics, 2026
- [9]Zhu Z#, Yu P#, Mao X#, Liu C, Li K, Zhou Q, Wang Y, Luo T, Xiang X, Zhu Y, Wu D, Jian X, Li B, Tang B, Xia K, Zhao G*, Li J*.Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.Nucleic Acids Research, 2026
- [10]Zhang S#, Li L#, Wang Z, Huang Y, Wang Y, Qiu J, Xia K, Tang B, Mutz J*, Zhao G*, Li J*, Li B*.Interactions between rare and common variant genetic risks in determining telomere length.Science Bulletin, 2025
- [11]Wang Z#, Li L#, Xu Q, Pan H, Wang Y, Long Q, Huang Y, Dai Y, Zhang S, Zhou Q, Zhao G, Li B, Tang B, Qiu J*, Li J*.The APOE ε4 allele affects the survival of patients with Parkinson's disease independent of dementia.Journal of Translational Medicine, 2025
- [12]Yuan X#, Xia X#, Li J*, Zhao G*.HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline.Genetics in Medicine, 2025
- [13]Xiong J#, Xu T#, Wang Z, Huang Y, Zhang S, Yang G, Yang J, Gao S, Wang T, Jian X, Zhao G, Li J*, Li B*.The hidden genetic and microbial networks connecting neuropsychiatric and digestive disorders.Computational and Structural Biotechnology Journal, 2025
- [14]Zhu Z#, Shang L#, Shao C#, Wang Z, Mao X, Huang Y, Yu P, Li B*, Li J*, Zhao G*.PenCards: a global and community-contributed public archive of variant penetrance.Journal of Genetics and Genomics, 2025
- [15]Yang J#, Huang Y#, Wang Z, Zhang S, Wu D, Xiong J, Wu H, Wang Y, Zhou Q, Zhu Y, Zhao G, Li B, Guo J, Xia K, Tang B, Li J*.A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.NPJ Parkinson's Disease, 2025
- [16]Gao S#, Wang Z#, Huang Y, Yang G, Wang Y, Yi Y, Zhou Q, Jian X, Zhao G, Li B, Xu L, Xia K, Tang B, Li J*.Early detection of Parkinson's disease through multiplex blood and urine biomarkers prior to clinical diagnosis.NPJ Parkinson's Disease, 2025
- [17]Zhao W#, Tao Y#, Xiong J#, Liu L#, Wang Z, Shao C, Shang L, Hu Y, Xu Y, Su Y, Yu J, Feng T, Xie J, Xu H, Zhang Z, Peng J, Wu J, Zhang Y, Zhu S, Xia K, Tang B, Zhao G*, Li J*, Li B*.GoFCards: an integrated database and analytic platform for gain of function variants in humans.Nucleic Acids Research, 2025
- [18]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
- [19]Zhang S#, Wang Z#, Wang Y, Zhu Y, Zhou Q, Jian X, Zhao G, Qiu J, Xia K, Tang B, Mutz J*, Li J*, Li B*.A metabolomic profile of biological aging in 250,341 individuals from the UK Biobank.Nature Communications, 2024
- [20]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