Statistical Genetics, Genomics and Bioinformatics
Li, Miaoxin (李淼新)
Professor on Precision Medical Genetics & Bioinformatics
Zhongshan School of Medicine, Sun Yat-sen University
Honorary Assistant Professor
Faculty of Medicine, The University of Hong Kong
- Email: firstname.lastname@example.org OR email@example.com
- Tel: +8620873350805
- Office: Room 904, Medical Science and Technology Building, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, 510080, China
Methodological innovations in bioinformatics and statistics for genetic mapping of human diseases
A substantial part of my recent research is to develop novel statistics and bioinformatics methods to optimally combine genetic data and genomic resources for the identification of loci or genes responsible for human disorders.
We have a long-standing interest in integrating the emerging genomic or epigenomics resources into conventional statistical tests under a more powerful unified analysis framework to detect sequence variants or genes contributing to human genetic diseases. In the past few years, we have developed a series of statistical and bioinformatics methods in this field. These include, a rapid and powerful gene-based statistical association test for genome-wide association studies (GWAS) [Li MX et al. Am J Hum Genet.2011;88(3):283-93], a hybrid statistical test for protein-protein interaction-bases association analysis in GWAS [Li MX et al. Am J Hum Genet. 2012;91(3):478-88], a comprehensive framework to prioritize sequence variants in exome sequencing studies of Mendelian diseases [Li MX et al. Nucleic Acids Res. 2017;45(9):e75, 2012;40(7):e53], an effective framework to merge huge amount of genotypes from high-throughput arrays for whole genome linkage/association analysis [Li MX et al. Bioinformatics. 2009;25(11):1449-50], and an ultra-fast and accurate method to impute statistical significance at untyped sequence variants (Eur J Hum Genet. 2016;24(5):761-6).
Currently, we are am developing methods and software tools to integrate DNA regulatory signatures for the identification of rare and common susceptibility loci to Mendelian and complex diseases using next-generation sequencing data, including whole-exome sequencing, whole-genome sequencing and whole-transcriptome shotgun sequencing.
Genetic linkage and association analysis for a series of specific human diseases
We are also interested in unraveling genes or genetic loci of specific human disorders, using my own and other’s methods/software tools. Collaborating with clinical doctors and colleagues, we have successfully identified a number of novel mutations or susceptibility loci of human diseases, including the Charcot-Marie-Tooth neuropathy [Li MX et al. Peripher Nerv Syst. 2009;14(1):14-21], Spinocerebellar ataxia[Li MX et al, Clin Genet. 2013;83(3):269-73], Hepatitis B Infection [Zhao Q, ..., Li MX et al. Hepatology. 2012; 56(5):1661-70] and Schizophrenia [Wong E, So HC, Li MX et al. Schizophrenia Bulletin (In press)]. There are also several on-going genetic mapping projects of different diseases, e.g., the atrial standstill, familial spastic paraplegias and hepatocellular carcinoma.
- Development of multivariate gene-based association analysis approaches for endophenotypes of complex diseases and their application to genetic mapping in a Chinese schizophrenia sample. (Health and Medical Research Fund, Project Code: 02132236) from August 2015 to July 2017, Principle investigator
- Statistical method to identify risk genes of complex diseases based on functional gene sets and networks, with a genetic data mining application to hepatocellular carcinoma. (Health and Medical Research Fund, Project Code: 01121436) from May 2014 to April 2016, Principle investigator
- Prioritizing genes on disease susceptibility by comprehensive biological features. (Seed Funding Programme for Basic Research, Project Code: 201411159172) from May 2015 to April 2016, Principle investigator.
- Mine host genetic factors affecting progression of chronic Hepatitis B virus infection in an exome sequencing data set. (Seed Funding Programme for Basic Research, Project Code: 201302159006) from September 2013 to September December 2014, Principle investigator.
- Bioinformatics tools for identifying disease loci from exome sequencing data. Hong Kong General Research Fund (GRF, Project Number: 776412), from January 2013 to December 2015. Co-investigator.
- Method and Software for Personal Risk Profiling of Complex Diseases. Hong Kong General Research Fund (GRF, Project Number: 777511), from January 2012 to December 2014. Co-investigator.
- Development of a bioinformatics tool to optimize the experimental design of targeted next-generation sequencing studies. HKU201007176166 (Small Project Funding), from September 2010 to August 2011. Principle investigator.
- Systematic studies of the developing process of IgG antibodies via a series of methods from multi-disciplines. National Natural Science Foundation of China (NSFC, http://www.nsfc.gov.cn), Approved Number: 305001107, from January 2006 to December 2008; Co-investigator.
- Bioinformatics study on the difference in transcriptional and translational expression of genes in malignant tumor tissues. Shanghai Science Council Pujiang Funding, Approved Number: 06PJ14073, from January 2006 to September 2008; Co-investigator.
- Genetic mapping and physical cloning of atrial standstill mutation and its pathogenic mechanism study. National Natural Science Foundation of China; Co-investigator.
*: Joint First Author ; †: Senior/Joint Senior Author; IF: Impact
Factor of Journal Citation Reports® in 2012
- Li M*†, Li J*, Li MJ, Pan Z, Hsu JS, Liu DJ, Zhan X, Wang J, Song Y, Sham PC†. Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework. Nucleic Acids Res. 2017 May 19;45(9):e75[IF: 9.202]
- Li MJ*, Li M*, Liu Z*, Yan B, Pan Z, Huang D, Liang Q, Ying D, Xu F, Yao H, Wang P, Kocher JA, Xia Z, Sham PC, Liu JS, Wang J. cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes. Genome Biol. 2017 Mar 16;18(1):52. [IF: 11.313]
- Van der Sluis S, Dolan CV, Li J, Song Y, Sham P, Posthuma D, Li MX†. MGAS: a powerful tool for multivariate gene-based genome-wide association analysis. Bioinformatics. 2014 Nov 26. pii: btu783. [IF: 5.766]
- Li MJ, Deng J, Wang P, Yang W, Ho SL, Sham PC, Wang J†, Li MX†. wKGGSeq: A comprehensive strategy-based and disease-targeted online framework to facilitate exome sequencing studies of inherited disorders. Hum Mutat. 2015 Feb 10. doi: 10.1002/humu.22766. [IF: 5.122]
- Li MX*, Kwan JS*, Bao SY, Yang W, Ho SL, Song YQ, Sham PC. Predicting Mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies. PLoS Genet. 2013 Jan;9(1):e1003143. [IF: 8.517]
- Li MX*, Kwan JS*, Sham PC. HYST: A hybrid set-based test for genome-wide association studies, with application to protein-protein interaction-based association analysis. Am J Hum Genet. 2012 Sep 7;91(3):478-88.[IF: 11.202]
- Li MX, Gui HS, Kwan JS, Sham PC. GATES: a rapid and powerful gene-based association test using extended Simes procedure. Am J Hum Genet. 2011 Mar 11;88(3):283-93.[IF: 11.202]
- Li MX†, Gui HS, Kwan JS, Bao SY, Sham PC†. A comprehensive framework for prioritizing variants in exome sequencing studies of rare monogenic diseases. Nucleic Acids Res. 2012 Apr 1;40(7):e53. [IF: 8.278]
- Li MX, Yeung MY, Cherny SS, Sham PC. Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets.Hum Genet. 2012 May;131(5):747-56.[IF: 5.138]
- Li MX†, Jiang L, Kao PYP, Sham PC, Song YQ†. IGG3: A tool to rapidly integrate large genotype datasets for whole-genome imputation and individual-level meta-analysis. Bioinformatics. 2009 Jun 1;25(11):1449-50.[IF: 5.766]
- A biological Knowledge-based mining system/platform for Genomic and Genetic studies using Sequence data (KGGSeq) A software tool for downstream analysis by integrating available diverse genomic data and statistical evidences to quantitatively and/or qualitativelyprioritize rare and common sequence variants from next generation sequencing.
- Knowledge-based mining system for Genome-wide Genetic studies (KGG) A software tool to perform knowledge-based analysis for genome-wide association studies (GWAS). At present, it has three major functions, 1) optimally weighting SNP’s association p values through a knowledge-based iterative procedure; 2) powerful gene-based association tests for SNP’s p values from GWAS; 3) advanced protein-protein interaction- and pathway-level association tests for the SNP’s p values.
- An fast and versatile p-value imputation for genome-wide association studies (FAPI) a tool to impute statistical association p-values at untyped genetic markers according to their linkage-disequilibrium in ancestry-matched reference populations.
- An online strategy-based prioritization and visualization system for exome sequence studies on inherited disorders (wKGGSeq) an online version of KGGSeq, which use strategy-based analysis approach to simply downstream analysis of exome sequencing data for monogenic disorders
- SnpTracker a small tool to extract the latest version rsID and genomic coordinates of SNPs given any version of rs ID(s)
- Genetic Type I error calculator (GEC) A software tool to rapidly address multiple-testing issue with dependent SNPs. It implemented my new measure of effective number of independent tests, which is more robust than available methods. As implemented in GEC, this new measure enhanced the statistical power of several popular multiple-testing methods including Bonferroni, Holm, Simes in the evaluation of significance level of SNPs’ p values in GWAS.
- Integration of Genotypes from Genechips (IGG) A Java-based tool with graphic interface to integrate genotypes across high-throughput genotyping platforms of Affymetrix and Illumina companies, HapMap Project and other popular genotype datasets to facilitate genetic analysis. It is equipped with a series of functions to control qualities of genotype integration and to flexibly export genotypes for genetic studies as well. It is able to handle all HapMap genotypes and tens of thousand of the large Illumina and Affymetrix chips (Affymetrix_GenomeWide_Human_SNP_Array_6.0 and Illumina_HumanHap1M) in a desktop computer with 2 Gigabyte memory.
- Human Leukocyte Antigen Sequence Analyzer (HLAA) A user-friendly software tool with graphic interface to facilitate identification of HLA alleles using Sanger sequencings data. It has a robust algorithm to accurately convert trace signals into DNA sequences and rapidly align the sequences with reference sequences in IMGT/HLA Database. It is a competitor of the commercial tool named uTYPE? HLA Analysis Software by Invitrogen Corporation.
- Disease Genomic Information Platform (DGIP) A useful bioinformatics repository to store genetic and clinical information in human genetic research. It provided standard procedure for exchange of genetic data among different research groups. It was a part of National 863 Project of China.
- SNP Processor (SNPP) A dynamic general database management system. It provided several functions, including dataimporting with comparison, Mendelian inheritance check withinpedigrees, data compiling and exporting. Furthermore, it was able togenerate files for repeat genotyping and transform them intofiles that can be executed by a liquid handling system.
- Genotype && Phenotype (GPDB)—Browse/Server Mode A web application based on J2EE to manage phenotype and microsatellite genotype data mainly for genome-wide scan. Users can easily manage their data through Internet browsers.
- Geno&Pheno Database (GPDB)—Client/Server Model A database management system with Client/Server model. It has identical function as the Browse/Server Mode GPDB.
- Simulation of Deleterious Genomic Mutation (SimDGM) An web application based on J2EE for researchers to estimate some important parameters about Deleterious Genomic Mutation (DGM).
- 2011.11 Hong Kong Young Scientist Award, finalists'recognition.
Hong Kong Institution of Science, Hong Kong
- 2003.12 Outstanding Graduate Students for Scientific Research
Hunan Normal University, China
- 2000.10 Practices and Innovation Award
Hunan Normal University, China
*: Joint First Author ; †: Senior/Joint Senior Author
- Li M*†, Li J*, Li MJ, Pan Z, Hsu JS, Liu DJ, Zhan X, Wang J, Song Y, Sham PC†. Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework. Nucleic Acids Res. 2017 May 19;45(9):e75
- Li MJ*, Li M*, Liu Z*, Yan B, Pan Z, Huang D, Liang Q, Ying D, Xu F, Yao H, Wang P, Kocher JA, Xia Z, Sham PC, Liu JS, Wang J. cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes. Genome Biol. 2017 Mar 16;18(1):52.
- Van der Sluis S, Dolan CV, Li J, Song Y, Sham P, Posthuma D, Li MX†. MGAS: a powerful tool for multivariate gene-based genome-wide association analysis. Bioinformatics. Bioinformatics. 2015 Apr 1;31(7):1007-15
- Li MJ, Pan Z, Liu Z, Wu J, Wang P, Zhu Y, Xu F, Xia Z, Sham PC, Kocher JP,Li M†, Liu JS†, Wang J†.Predicting regulatory variants with composite statistic.Bioinformatics. 2016 Sep 15;32(18):2729-36.
- Li MJ, Deng J, Wang P, Yang W, Ho SL, Sham PC, Wang J†, Li MX†. wKGGSeq: A comprehensive strategy-based and disease-targeted online framework to facilitate exome sequencing studies of inherited disorders. Hum Mutat. 2015 Feb 10. doi: 10.1002/humu.2276
- Gui H, Kwan JS, Sham PC, Cherny SS†,Li M†. Sharing of Genes and Pathways Across Complex Phenotypes: A Multilevel Genome-Wide Analysis.Genetics. 2017 May 11. pii: genetics.116.198150
- Li J,Sham PC,Song Y†, Li MX†. SPS: a simulation tool for calculating power of set-based genetic association tests. Genet Epidemiol. 2015 Jul;39(5):395-7
- Wang Q*, Cheng W*, Li M*, Ren H, Hu X, Deng W, Ma X, Zhao L, Wang Y, Xiang B, Wu HM, Sham PC, Feng J, Li T. The CHRM3 gene is implicated in abnormal thalamo-orbital frontal cortex functional connectivity in first-episode treatment-naive patients with schizophrenia. Psychol Med. 2016 May;46(7):1523-34
- Wang Q*, Li MX*, Yang Z, Hu X, Wu HM, Ni P, Ren H, Deng W, Li M, Ma X, Guo W, Zhao L, Wang Y, Xiang B, Lei W, Sham PC, Li T. Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development. Sci Rep. 2015 Dec 15;5:18209.
- Deng JE, Sham PC,Li MX†. SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive Sequence Variants. G3 (Bethesda). 2015 Nov 19;6(1):205-7.
- Kwan JS, Li M*†, Deng JE, Sham PC. FAPI: Fast and accurate P-value Imputation for genome-wide association study. Eur J Hum Genet. 2016 May;24(5):761-6
- Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7.
- Li MX, Ho PW, Pang SY, Tse ZH, Kung MH, Sham PC, Ho SL. PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia. PLoS One. 2014 Aug 13;9(8):e104790.
- Peng L, Zhao Q, Li Q, Li MX, Li C, Xu T, Jing X, Zhu X, Wang Y, Li F, Liu R, Zhong C, Pan Q, Zeng B, Liao Q, Hu B, Hu ZX, Huang YS, Sham P, Liu J, Xu S, Wang J, Gao ZL, Wang Y. The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B. Hepatology. 2014 Nov 21. doi: 10.1002/hep.27608.
- Wong EH,So HC,Li MX, et al. Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese. Schizophrenia Bulletin 2013 Sep 16.
- Li MX*, Kwan JS*, Bao SY, Yang W, Ho SL, Song YQ, Sham PC. Predicting Mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies. PLoS Genet. 2013 Jan;9(1):e1003143
- Li MX*, Kwan JS*, Sham PC. HYST: A hybrid set-based test for genome-wide association studies, with application to protein-protein interaction-based association analysis. Am J Hum Genet. 2012 Sep 7;91(3):478-88
- Li MX, Gui HS, Kwan JS, Sham PC. GATES: a rapid and powerful gene-based association test using extended Simes procedure. Am J Hum Genet. 2011 Mar 11;88(3):283-93..
- Li MX†, Gui HS, Kwan JS, Bao SY, Sham PC†. A comprehensive framework for prioritizing variants in exome sequencing studies of rare monogenic diseases. Nucleic Acids Res. 2012 Apr 1;40(7):e53. Epub 2012 Jan 12.
- Li MX, Yeung MY, Cherny SS, Sham PC. Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets.Hum Genet. 2012 May;131(5):747-56. Epub 2011 Dec 6.
- Li MX, Sham PC, Cherny SS, Song YQ. A knowledge-based weighting framework to boost the power of genome-wide association studies.PLoS One. 2010 Dec 31;5(12):e14480.
- Li MX†, Jiang L, Kao PYP, Sham PC, Song YQ†. IGG3: A tool to rapidly integrate large genotype datasets for whole-genome imputation and individual-level meta-analysis. Bioinformatics. 2009 Jun 1;25(11):1449-50.
- Li MX, Jiang L, Song YQ, Sham PC. Power of transmission/disequilibrium tests in admixed populations. Genet Epidemiol. 2008 Jul;32(5):434-44.
- Li MX, Jiang L, Ho SL, Song YQ, Sham PC. IGG: A tool to integrate GeneChips for genetic studies. Bioinformatics. 2007 Nov 15;23(22):3105-7.
- Zhao LJ*, Li MX*, Guo YF, Xu FH, Li JL, Deng HW. SNPP: automating large-scale SNP genotype data management. Bioinformatics. 2005 Jan 15;21(2):266-8.
- Li MX*, Cheng TS*, Ho PWL, Chan KH, Mak W, Cheung RTF, Ramsden DB, Sham PC, Song YQ, Ho SL. (2008) -459C>T point mutation in 5' non-coding region of human Connexin-32 gene is linked to X-linked Charcot-Marie-Tooth neuropathy. J Peripher Nerv Syst. 2009 Mar;14(1):14-21.
- Li MX*, Pang SY, Song YQ, Kung HW, Ho SL, Sham. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. (In press)
- Li MX, PY Liu, YM Li, YJ Qin, YZ L, HW Deng. A major gene model of adult height is suggested in Chinese. J Hum Genet. 2004; 49(3): 148-53.
- Li JL, Li MX, Guo YF, Deng HY, Deng HW. JADE: a distributed Java application for deleterious genomic mutation (DGM) estimation. Bioinformatics. 2006 Aug 1;22(15):1926-7.
- So HC, Li MX, Sham PC Uncovering the total heritability explained by all true susceptibility variants in a genome-wide association study. Genet Epidemiol. 2011 Sep;35(6):447-56.
- Gui H, Li M, Sham PC, Cherny SS. Comparisons of seven algorithms for pathway analysis using the WTCCC Crohn's Disease dataset.BMC Res Notes. 2011 Oct 7;4:386.
- Deng HW, Li YM, Li MX, Liu PY. Robust Indices of Hardy-Weinberg Disequilibrium for QTL Fine Mapping. Hum Hered. 2003; 56(4): 160-5.
- Li JL, Li MX, Deng HY, Duffy PE, Deng HW. PhD: a web database application for phenotype data management. Bioinformatics. 2005 Aug 15;21(16):3443-4.
- He QY, Cao J, Liu XH, Li MX, Liu YS, Xie JY, Liang SP. DEPD: a novel database for differentially expressed proteins. Bioinformatics. 2005 Sep 15;21(18):3694-6.
- Jiang DK, Shen H, Li MX, Jiang C, Yang N, Zhu J, Wu Y, Qin YJ, Zhou Q, Deng HW. No major effect of the insulin-like growth factor I gene on bone mineral density in premenopausal Chinese women. Bone. 2005 Apr;36(4):694-9.
- Liu PY, Li YM, Li MX, Malkin I, Qin YJ, Chen XD, Liu YJ, Deng HW. Lack of evidence for a major gene in the Mendelian transmission of BMI in Chinese. Obes Res. 2004 Dec;12 (12):1967-73.
- Yang YJ, Liu YZ, Li MX, Lei SF, Chen XD, Sun X, Deng HW. Linkage exclusion analysis of two important chromosomal regions for height. Biochem Biophys Res Commun. 2005 Oct 7;335(4):1287-92.
- Guo JJ, Liu YJ, Li MX, Yang YJ, Recker RR, Deng HW. Linkage exclusion analysis of two candidate regions on chromosomes 7 and 11: leptin and UCP2/UCP3 are not QTLs for obesity in US Caucasians. Biochem Biophys Res Commun. 2005 Jul 1;332(2):602-8.
- Deng FY, Liu MY, Li MX, Lei SF, Qin YJ, Zhou Q, Liu YJ, Deng HW. Tests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear families. Bone. 2003 Oct; 33(4): 614-619.
- Deng FY, Lei SF, Li MX, Jiang C, Dvornyk V, Deng HW. Genetic determination and correlation of body mass index and bone mineral density at the spine and hip in Chinese Han ethnicity. Osteoporos Int. 2006 Jan;17(1):119-24.
- Zhou XG, Liu YZ, Li MX, Jian WX, Lei SF, Qin YJ, Zhou Q, Deng HW. Parathyroid hormone gene with bone phenotypes in Chinese. Biochem Biophys Res Commun. 2003 Aug 1; 307(3): 666-71.
- Jian WX, Long JR, Li MX, Liu XH, Deng HW. Genetic determination of variation and covariation of bone mineral density at the hip and spine in a Chinese population. J Bone Miner Metab. 2005;23(2):181-5.
- Lei SF, Deng FY, Li MX, Dvornyk V, Deng HW. Bone mineral density in elderly Chinese: effects of age, sex, weight, height, and body mass index. J Bone Miner Metab. 2004; 22(1): 71-8.
- Xu H, Long JR, Li MX, Deng HW. Interaction effects between estrogen receptor alpha and vitamin D receptor genes on age at menarche in Chinese women. Acta Pharmacol Sin. 2005 Jul;26(7):860-4.
- Chen XD, Shen H, Lei SF, Li MX, Yang YJ, Deng HW. Exclusion mapping of chromosomes 1, 4, 6 and 14 with bone mineral density in 79 Caucasian pedigrees. Bone. 2006 Mar;38(3):450-5.
- Lei SF, Liu YZ, Deng FY, Li YM, Li MX, Deng HW. Association and linkage analyses of interleukin-6 gene 634C/G polymorphism and bone phenotypes in Chinese. J Bone Miner Metab. 2005;23(4):323-8.
- Xu H, Zhao LJ, Lei SF, Li MX, Sun X, Deng FY, Jiang DK, Deng HW. The (CA)n polymorphism of the TNFR2 gene is associated with peak bone density in Chinese nuclear families. J Hum Genet. 2005;50(6):301-4.
- Deng FY, Long JR, Lei SF, Li MX, Deng HW.Potential effect of inter-genic action on peak bone mass (PBM) in Chinese females. Yi Chuan Xue Bao. 2005 Oct;32(10):1003-10.
- Jiang DK, Xu FH, Liu MY, Chen XD, Li MX, Liu YJ, Shen H, Deng HW. No evidence of association of the osteocalcin gene HindIII polymorphism with bone mineral density in Chinese women. J Musculoskelet Neuronal Interact. 2007 Apr-Jun;7(2):149-54.
- Liu XH, Liu YJ, Jiang DK, Li YM,Li MX, Qin YJ, Jian WX, Zhou Q, Deng HW. No evidence for linkage and/or association of human alpha2-HS glycoprotein gene with bone mineral density variation in Chinese nuclear families. Calcif Tissue Int. 2003 Sep; 73(3): 244-50.
- Liu YJ, Liu XH, Lei SF, Li MX, Deng HW. Alpha2-HS glycoprotein gene is associated with bone size at the hip in Chinese. Yi Chuan Xue Bao. 2005 Nov;32(11):1128-35.
- Mo XY, Cao CK , Xu FH , Liu MY, Li MX, Qin YJ , Zhou Q, Zhang YY, Deng HW. Lack of association between the HindIII RFLP of the osteocalcin (BGP) gene and bone mineral density (BMD) in healthy pre- and post-menopausal Chinese women. J Bone Miner Metab. 2004;22(3):264-9.
- Huang QY, Xu FH, Shen H, Deng HY, Conway T, Liu YJ, Liu YZ, Li JL, Li MX, Davies KM, Recker RR, Deng HW. Genome Scan for QTLs Underlying Bone Size Variation at Ten Refined Skeletal Sites:Genetic Heterogeneity and the Significance of Phenotype Refinement. Physiol Genomics. 2004 May 19;17(3):326-31
- Zhang YY, Lei SF, Mo XY, Wang YB, Li MX, Deng HW. The -1997 G/T Polymorphism in the COLIA1 Upstream Regulatory Region is Associated with Hip Bone Mineral Density (BMD) in Chinese Nuclear Families. Calcif Tissue Int. 2005 Feb;76(2):107-12.
- Wang YB, Lei SF, Dvornyk V, Sun X, Jiang DK, Li MX, Deng HW. The genetic, environmental and phenotypic correlations of bone phenotypes at the spine and hip in Chinese. Ann Hum Biol. 2006 Jul-Aug;33(4):500-9.
- Qin YJ, Shen H, Huang QR, Zhao LJ, Zhou Q, Li MX, He JW, Mo XY, Lu JH, Recker RR, Deng HW. Estrogen receptor alpha gene polymorphisms and peak bone density in Chinese nuclear families. J Bone Miner Res. 2003 Jun; 18(6): 1028-35.
- Li Y, Fu L, Wong AM, Fan YH, Li MX, Bei JX, Jia WH, Zeng YX, Chan D, Cheung KM, Sham P, Chua D, Guan XY, Song YQ. Identification of genes with allelic imbalance on 6p associated with nasopharyngeal carcinoma in southern Chinese. PLoS One. 2011 Jan 20;6(1):e14562.
- Xia LQ, Li MX, Qiu W, Zou XQ, Mo XT, Chen Y. Studies on the Fermentation Monitoring of Bacillus Thuringiensis. Jour Nat Scie Hunan Norm Uni?2002 Jun?25 (2).
- Liu C, Saffen D, Schulze TG, Burmeister M, Sham PC, Yao YG, Kuo PH, Chen C, An Y, Dai J, Yue W, Li MX, Xue H, Su B, Chen L, Shi Y, Qiao M, Liu T, Xia K, Chan RC. Psychiatric genetics in China: achievements and challenges.Mol Psychiatry. 2016 Jan;21(1):4-9.
- Zhao Q*, Peng L*, Huang W*. Li Q*, ..., Li MX et al. Rare inborn errors associated with chronic hepatitis B virus infection. Hepatology. 2012;56(5):1661-70.