Jun Li, Ph.D.

Jun Li, Ph.D.

Professor of Human Genetics
Professor & Associate Chair for Research of Computational Medicine and Bioinformatics
Faculty, Center for Statistical Genetics; Comprehensive Cancer Center
Member, Depression Center; Michigan Diabetes Research Center; Michigan Metabolomics & Obesity Center
Co-Director, Michigan Center for Single-Cell Genomic Data Analytics

5940A Buhl
1241 E. Catherine St. SPC 5618
Ann Arbor, MI 48109-5618

734-615-5754

Administrative Contact

Sue Kellogg

Areas of Interest

The Li lab studies the genetic and functional basis of complex human diseases using genomic approaches.  Currently our NIH-supported projects include the analyses of spontaneous mutation patterns in the human genome (NIGMS R01), multi-omic studies of a genetic rat model of addiction behavior (NIDA U01) and a rat model of metabolic health (NIDDK R01).  We are part of the MoTrPAC Consortium (U24 NIH Common Funds) which seeks to discover the molecular transducers of the health benefit of physical exercise.  Dr. Li co-directs the Michigan Center for Single-Cell Genomic Data Analytics, which aims to build a strong computational infrastructure to support the rigorous use of single-cell genomic data.  An overarching theme in the Li lab is the responsible use of complex data in transparent, reproducible, and community extendable research.  We are constantly recruiting talented individuals with background in biostatistics and biomedical data science.  

Main Funding Sources

NIH 1R01CA217954: Advancing biological and clinical applications of genomic Minimal Residual Disease detection in AML (PI: Malek, Co-I, Li)

NIH 1R01GM118928: High-resolution map of human germline mutation patterns and inference of mutagenic mechanisms (contact PI: Li, MPI: Zoellner)

NIH R01HL141399:  The Molecular Genetics of Venous Thromboembolic Disease (PI, Desch, Co-I: Li)

NIH U01DA043098: Genetics of novelty seeking and propensity for drug abuse in outbred rats (contact PI: Akil, MPI: Li)

NIH 1U24DK112342: Michigan MoTrPAC Chemical Analysis Site (MiCAS) (contact PI: Burant, MPI: Li)

Michigan Institute for Data Science (MIDAS): Michigan Center for Single-Cell Genomic Data Analytics (Co-PI: Li, Gilbert, Co-I: 8 others)

Michigan Diabetes Research Ctr. Study Grant: Elucidating the landscape of liver cell heterogeneity in normal and insulin resistant states by single cell RNA sequencing (co-PI: Lin, Li, Kurabayashi)

Cancer Center Research Committee Innovation Grant: Identifying the cellular source of relapse in AML (Co-PI: Malek, Li)

Taubman Institute Grand Challenge Phase I Grants: Individualized Disease Prediction Using a Multi-Dimensional, Time-Resolved “Big Data” Approach (Co-PIChoi, Tewari, Co-I, Li)

Pritzker Neuropsychiatric Disorders Research Consortium: Genetic and genomic analyses of psychiatric disorders (PI of subcontract: Li)

NIH 1R01HL139672: Genetic and Genomic Analysis of Arterial Dysplasia (PI: Ganesh, Co-I, Li)

NIH R21HD090371: Comprehensive mapping of mouse testis cell types and spermatogenic stages by single-cell RNA sequencing (PI: Hammoud, Co-I, Li)

Positions Available

The Li lab is recruiting talented individuals with background in quantitative analysis or interest in statistical genetics, bioinformatics, or cancer genomics. Positions are open at multiple levels: graduate student, postdoc, research staff, or research-track faculty. Current projects (2016-2020) include: single-cell RNAseq data analysis, methodological and theoretical research in clustering, mutation patterns in the human genome, multi-omics data integration involving metabolomic, proteomic, and transcriptomic data, QTL mapping in rat models of metabolomic traits and emotional traits. Please contact junzli@med.umich.edu.

Honors & Awards

  • 2009-2011 NARSAD Young Investigator Award
  • 2011-2014 Ellison Medical Foundation New Scholar in Aging
  • 2011-2014 IMHRO – Johnson & Johnson Rising Star Translational Research Award
  • 2014 Dean's Basic Science Research Award
  • 2015 Endowment for the Basic Sciences Recognition Award

Credentials

  • 1985- 1989 B.Sc., Department of Physics, Beijing University. Thesis: Computation of the Characteristic Inversion Rates of Semiconductor Lasers
  • 1991- 1998 Ph.D., Division of Biology, California Institute of Technology. Thesis: Structure-function relationship and single-channel behavior of cyclic nucleotide-gated channels
  • 1998- 2001 Postdoctoral fellow, Department of Genetics, Stanford University School of Medicine.
  • 2001- 2007 Senior Scientist and project leader, Stanford Human Genome Center, Stanford University

Published Articles or Reviews

Also see Google Scholar page:
http://scholar.google.com/citations?user=HVSPtygAAAAJ&hl=en

2012-Current

Shweta Ramdas, Yanchao Pan, Jun Z Li, Coverage-based detection of copy number alterations in mixed samples using DNA sequencing data: a theoretical framework for evaluating statistical power. BioRxiv 413690 [Preprint] Available from https://www.biorxiv.org/content/early/2018/09/10/413690.

Jaehee Kim, Michael D. Edge, Bridget F. B. Algee-Hewitt, Jun Z. Li, and Noah A. Rosenberg. Statistical detection of relatives typed with disjoint forensic and biomedical loci, Cell. (In Press)

Jedidiah Carlson, Adam Locke, Matthew Flickinger, Matthew Zawistowski, Shawn Levy, The BRIDGES Consortium, Richard Myers, Michael Boehnke, Hyun Min Kang, Laura Scott, Jun Z. Li*, Sebastian Zöllner*. Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans. Nature Communications. (In Press)

Christopher D. Green, Qianyi Ma, Gabriel L. Manske, Adrienne Niederriter Shami, Xianing Zheng, Simone Marini, Lindsay Moritz, Caleb Sultan, Stephen J. Gurczynski, Bethany B. Moore, Michelle D. Tallquist, Jun Z. Li*, Saher Sue Hammoud*. A comprehensive roadmap of murine spermatogenesis defined by single-cell RNA-seq. Development Cell. 2018 Aug 21. S1534-5807(18)30636-1.

Hagenauer MH, Schulmann A, Li JZ, et al. Inference of cell type content from human brain transcriptomic datasets illuminates the effects of age, manner of death, dissection, and psychiatric diagnosis. Hetman M, ed. PLoS ONE. 2018. PM30016334/PMC6049916

Ramdas S, Ozel AB, Treutelaar MK, Holl K, Mandell M, Solberg Woods L, Li JZ: Extended regions of suspected mis-assembly in the rat reference genome BioRxiv 332932 [Preprint] May 2018. Available from https://www.biorxiv.org/content/early/2018/05/29/332932.1.

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins C, Lohmann K, van de Warrenburg BP, Burmeister M: Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol: 2018. PM29604224

Edge MD, Algee-Hewitt BFB, Pemberton TJ, Li JZ, Rosenberg NA: Linkage disequilibrium matches forensic genetic records to disjoint genomic marker sets. Proc Natl Acad Sci U S A 114(22): 5671-5676, 2017. PM28507140

Ramaker RC, Bowling KM, Lasseigne BN, Hagenauer MH, Hardigan AA, Davis NS, Gertz J, Cartagena PM, Walsh DM, Vawter MP, Jones EG, Schatzberg AF, Barchas JD, Watson SJ, Bunney BG, Akil H, Bunney WE, Li JZ, Cooper SJ, Myers RM: Post-mortem molecular profiling of three psychiatric disorders. Genome Med 9(1): 72, 2017. PM28754123/PMC5534072

Yuan W, Liu Z, Lei W, Sun L, Yang H, Wang Y, Ramdas S, Dong X, Xu R, Cai H, Li JZ, Ke Y: Mutation landscape and intra-tumor heterogeneity of two MANECs of the esophagus revealed by multi-region sequencing. Oncotarget 8(41): 69610-69621, 2017. PM29050228/PMC5642503

Westrick RJ, Tomberg K, Siebert AE, Zhu G, Winn ME, Dobies SL, Manning SL, Brake MA, Cleuren AC, Hobbs LM, Mishack LM, Johnston AJ, Kotnik E, Siemieniak DR, Xu J, Li JZ, Saunders TL, Ginsburg D: Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci. Proc Natl Acad Sci U S A: 2017. PM28827327

Ma Q, Jacobi PM, Emmer BT, Kretz CA, Ozel AB, McGee B, Kimchi-Sarfaty C, Ginsburg D, Li JZ, Desch KC: Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels. Blood Adv 1(15): 1037-1046, 2017. PM29296746/PMC5728318

van Rooij FJ, Qayyum R, …Li.JZ, …Ganesh SK: Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. Am J Hum Genet 100(1): 51-63, 2017. PM28017375/PMC5223059

Correa FA, França MM, Fang Q, Ma Q, Bachega TA, Rodrigues A, Ozel BA, Li JZ, Mendonca BB, Jorge AAL, Carvalho LR, Camper SA, Arnhold IJP: Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing. Arch Endocrinol Metab 61(6): 633-636, 2017. PM29412390/PMC5806044

Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M: Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. Elife 5: 2016. PM26812546/PMC4786408

Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, de Mendonça BB, Camper SA, Carvalho LR: HESX1 Mutations in Patients with Congenital Hypopituitarism: Variable Phenotypes with the Same Genotype. Clin Endocrinol (Oxf): 2016. PM27000987

Algee-Hewitt BF, Edge MD, Kim J, Li JZ, Rosenberg NA: Individual Identifiability Predicts Population Identifiability in Forensic Microsatellite Markers. Curr Biol 26(7): 935-42, 2016. PM26996508

Sandford E, Bird TD, Li JZ, Burmeister M: PRICKLE2 Mutations Might Not Be Involved in Epilepsy. Am J Hum Genet 98(3): 588-9, 2016. PM26942291/PMC4800039

Burmeister M, Lee JH, Schulman BA, Yapici Z, Tolun A, Juhasz G, Li JZ, Klionsky DJ: A role of autophagy in spinocerebellar ataxia-Rare exception or general principle? Autophagy 12(7): 1208-9, 2016. PM27105143/PMC4990986

Ren YY, Koch LG, Britton SL, Qi NR, Treutelaar MK, Burant CF, Li JZ: Selection-, age-, and exercisedependence of skeletal muscle gene expression patterns in a rat model of metabolic fitness. Physiol Genomics 48(11): 816-825, 2016. PM27637250/PMC5243203

Ozel AB, McGee B, Siemieniak D, Jacobi PM, Haberichter SL, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC: Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance. J Thromb Haemost 14(9): 1888-98, 2016. PM27359253/PMC5035595

Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ, Ajmal A, Pérez Millán MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA: Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev 37(6): 636-675, 2016. PM27828722 /PMC5155665

Q. Song, S.D.Merajver, J.Z. Li (2015) Cancer classification in the genomic era: five contemporary problems. Hum Genomics. 9:27. PMCID: 4612488

E.L. Aurbach, E.G. Inui, C.A. Turner, M.H. Hagenauer, K. E. Prater, J.Z. Li, D. Absher, N. Shah, P. Blandino Jr., W. E. Bunney, R. M. Myers, J. D. Barchas, A. F. Schatzberg, S. J. Watson, Jr., H. Akil (2015) Fibroblast Growth Factor 9 is a Novel Modulator of Negative Affect, PNAS, 112(38):11953-8. PMCID: 4586860

E. Sandford E, J.Z. Li, M. Burmeister (2015) Evaluation of exome sequencing variation in undiagnosed ataxias. Brain. 138(Pt 10):e383. PMCID: 4671475

J. Higgins, M. Brogley, N. Palanisamy, R. Mehra, M.M. Ittmann, J.Z. Li, S.A. Tomlins, D.M. Robins (2015) Interaction of the Androgen Receptor, ETV1, and PTEN Pathways in Mouse Prostate Varies with Pathological Stage and Predicts Cancer Progression. Hum Cancer. 6(2-3):67-86. PMCID: 4414739

Gene, Environment Association Studies (GENEVA) Consortium (including J. Li). (2015) Characterization of large structural genetic mosaicism in human autosomes, AJHG, 96(3):487-97. PMCID: 4375431

Psychiatric Genomics Consortium (including J. Li as a collaborator). (2015) Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder, AJHG 96(2):283-94. PMCID: In Process

Y. Ren, L.G. Koch, S.L. Britton, N.R. Qi, M.K. Treutelaar, C.F. Burant, J.Z. Li. (2015) Selection-, age-, and exercise-dependence of skeletal muscle gene expression patterns in a rat model of metabolic fitness. bioRxiv doi: http://dx.doi.org/10.1101/013706

B. G. Bunney, J. Z. Li, D. M. Walsh, R. Stein, M. P. Vawter, P. Cartagena, J. D. Barchas, A. F. Schatzberg, R. M. Myers, S. J. Watson, Jr., H. Akil, W. E. Bunney. (2015) Circadian dysregulation of clock genes: clues to rapid treatments in Major Depressive Disorder. Molecular Psychiatry. 20(1):48-55. PMCID: In Process

B. Li, J.Z. Li. (2014) A general framework for analyzing tumor subclonality using SNP array and DNA sequencing data. Genome Biology. 15(9):473. PMCID: 4203890.

R. Burns, K. Majczenko, J. Xu, W. Peng, Z. Yapici, J. J. Dowling, J. Z. Li, M. Burmeister. (2014) Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology. 83(23):2175-82. PMCID: 4276403.

Q. Ma, A. B. Ozel, S. Ramdas, B. McGee, R. Khoriaty, D. Siemieniak, H. Li, Y. Guan, L. C. Brody, J. L. Mills, A. M. Molloy, D. Ginsburg, J. Z. Li, K. C. Desch. (2014) Genetic variants in PLG, LPA and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels. Blood. 124(20):3155-64. PMCID: 4231423.

P. Hysi, C-Y Cheng, et al. (including J. Li) (2014) Genome-wide analysis of multiethnic cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nature Genetics, 46(10):1126-30. PMCID: 4177225.

Y. Şenbabaoğlu, G. Michailidis, J. Z. Li. (2014) Critical limitations of consensus clustering in class discovery. Scientific Reports, 4:6207. PMCID: 4145288.

M. J. Kiel, T. Velusamy, D. Rolland, A. Sahasrabuddhe, F. Chung, N. Bailey, A. Schrader, B. Li, J. Li, A. Ozel, D. Bahler, B. Betz, D. Huebner-Chan, R. Miranda, L. J. Medeiros, M. Herling, M. S. Lim, K. S.J. Elenitoba-Johnson. Integrated Genomic Sequencing Reveals Mutational Landscape of T-cell Prolymphocytic Leukemia, Blood, 124(9):1460-72. PMCID: 4148768.

J.Z. Li. (2014) Circadian rhythms and mood: opportunities for multi-level analyses in genomics and neuroscience. BioEssays 36: 305–315. PMCID: 4033528

C.M. Theriot, M. Koenigsknecht, P.E. Carlson, G. Hatton, A. Nelson, B. Li, G. Huffnagle, J.Z. Li, V. Young. (2014) Antibiotic-mediated Shifts in the Murine Gut Microbiome and Metabolome Leads to Susceptibility to Clostridium difficile Infection. Nature Communications. 5:3114. PMCID: 3950275

Y. Ren, K. A. Overmyer, N. R. Qi, M. K. Treutelaar, L. Heckenkamp, M. Kalahar, L. G. Koch, S. L. Britton, C. F. Burant, J. Z. Li. (2013) Genetic Analysis of a Rat Model of Aerobic Capacity and Metabolic Fitness. PLoS ONE 8(10):e77588..

V. M. Schaibley, M. Zawistowski, D. Wegmann, M. G. Ehm, M. R. Nelson, P. L. St. Jean, G. Abecasis, J. Novembre, S. Zöllner, J. Z. Li. (2013) The Influence of Genomic Context on Mutation Patterns Inferred from Rare Variants. Genome Research. 23(12):1974-84.

Psychiatric Genomics Consortium (including J. Li) (2013) Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45(9):984-94.

N.A. Rosenberg, T.J. Pemberton, J.Z. Li, J.W. Belmont (2013) Runs of homozygosity and parental relatedness. Genetics in Medicine, 15: 753-754.

A. B. Ozel, S. E. Moroi, D. M. Reed, M. Nika, C. M. Schmidt, S. Akbari, K. Scott, F. Rozsa, H. Pawar, D. C. Musch, P. R. Lichter, D. Gaasterland, K. Branham, J. Gilbert, S. J. Garnai, W. Chen, M. Othman, J. Heckenlively, A. Swaroop, G. Abecasis, D. S. Friedman, D. Zack, A. E. Ashley-Koch, M. Ulmer, J. H. Kang, NEIGHBOR Consortium, Y. Liu, B. L. Yaspan, J. Haines, R. R. Allingham, M. A. Hauser, L. Pasquale, J. Wiggs, J. E. Richards, J Z. Li. (2013) Genome-wide Association Study and Meta-analysis of Intraocular Pressure. Human Genetics. Published online September 4, 2013.

Z. A Szpiech, J. Xu, T. J Pemberton, W. Peng, S. Zollner, N. A Rosenberg, J. Z Li. (2013) Long runs of homozygosity are enriched for deleterious variation. (2013) AJHG. 93(1): 90-102.

J. Z. Li,* B. G. Bunney, F. Meng, M. H. Hagenauer, D. M. Walsh, M. P. Vawter, S. J. Evans, P. V. Choudary, J. D. Barchas, A. F. Schatzberg, E. G. Jones, R. M. Myers, S. J. Watson, H. Akil, W. E. Bunney. Circadian patterns of gene expression in the human brain and disruption in major depressive disorder. (2013) PNAS. 110(24): 9950-9955.

L. A. Carmody, J. Zhao, P. D. Schloss, J. F. Petrosino, S. Murray, V. B. Young, J. Z. Li, J. J. LiPuma. (2013) Changes in Cystic Fibrosis Airway Microbiota at Pulmonary Exacerbation. Annals of the American Thoracic Society. 10(3):179-87.

Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, et al. (2013) Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet.;45(2):155-63.

K. Desch, A. B. Ozel, D. Siemieniak, Y. Kalish, C. Thornburg, A. Sharathkumar, C. McHugh, C. Laurie, A. Crenshaw, D. Mirel, Y. Kim, C. Cropp, A. Molloy, P. Kirke, J. Bailey-Wilson, A. Wilson, J. Mills, J. Scott, L. Brody, J.Z. Li* and D. Ginsburg*. (2013) Linkage Analysis Identifies a Locus for Plasma von Willebrand Factor Undetected by Genome-Wide Association. PNAS. 110(2): 588-93.

A. E. Davidson, F. M. Siddiqui, M. Lopez, P. Lunt, H. A. Carlson, B. E. Moore, S. Love, D. E. Born, H. Roper, A. Majumdar, S. Jayadev, H. R. Underhill, C. O. Smith, M. von der Hagen, A. Hubner, P. Jardine, A. Merrison, E. Curtis1, T. Cullup, H. Jungbluth, M. O. Cox, T. L. Winder, H. Abdel Salam, J. Z. Li, S. A. Moore, J. J. Dowling. (2013) Novel deletion of lysine 7 expands the clinical, histopathologic and genetic spectrum of TPM2-related myopathies. Brain. 136 (Pt 2): 508-21.

S. Candille, D. M. Absher, S. Beleza, M. Bauchet, B. McEvoy, N. Garrison, J.Z. Li, R.M. Myers, G. S. Barsh, H. Tang, M.D. Shriver. (2012) Genome-wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations, PLoSONE. 7(10): e48294.

B. Li, Y. Senbabaoglu, W. Peng, M. Yang, J. Xu, J. Z. Li. (2012) Genomic estimates of aneuploid content in Glioblastoma Multiforme and proposal of a new integrated classification, Clinical Cancer Research. 18:5595-5605.

Y. Lee, et al. (including J. Li) (2012) Mutations in KCND3 cause spinocerebellar ataxia type 22. Annals of Neurology. 72(6): 859-69

T. J. Pemberton, D. Absher, M. W. Feldman, R. M. Myers, N. A. Rosenberg, J. Z. Li. (2012) Genomic patterns of homozygosity in worldwide human populations, AJHG, 91: 275-292.

K. Majczenko, A. E. Davidson, S. Camelo-Piragua, X. Li, S. Joshi, J. Xu, W. Peng, J. Z. Li, M. Burmeister, J. J. Dowling. (2012) Dominant mutation in CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores, AJHG, 91(2):365-71.

M. Ulmer, J. Li, B. Yaspan, A. B. Ozel, J. Richards, S. E. Moroi, J. S. Schuman, D. S. Friedman, R. Lee, D. Budenz, M. Pericak-Vance, NEIGHBOR Consortium Investigators, J. L. Wiggs, A. Ashley-Koch, M.l A. Hauser. (2012) Genome-wide Analysis Of Central Corneal Thickness In POAG Cases From The NEIGHBOR Consortium, Investigative Ophthalmology & Visual Science, 53(8):4468-74

M. R. Nelson et al. (including J. Li). (2012) An abundance of rare functional variants in 202 drug target genes sequenced in 14002 people. Science, 337: 100-104.

C. C. Laurie et al. (including J. Li). (2012) Chromosomal mosaicism from birth to old age and its relationship to cancer. Nature Genetics, 44: 642-650.

Sequeira A, Morgan L, Walsh DM, Cartagena PM, Choudary P, Li J, Schatzberg AF, Watson SJ, Akil H, Myers RM, Jones EG, Bunney WE, Vawter MP (2012) Gene expression changes in the prefrontal cortex, anterior cingulate cortex and nucleus accumbens of mood disorders subjects that committed suicide.. PLoS One. 7(4):e35367. Epub 2012 Apr 30

J. K. Bedoyan, V. M. Schaibley, W. Peng, Y. Bai, K. Mondal, A. Shetty, M. Durham, A. Dhiraaj, J. M. Skidmore, J. Kaplan, C. Skinner, R. Stevenson, C. Schwartz, A. Antonellis, M. Zwick, J. Cavalcoli, J. Z. Li, D. M. Martin. (2012) Disruption of RAB40AL function leads to Martin-Probst Syndrome, a rare X-linked multisystem neurodevelopmental human disorder. Journal of Medical Genetics, 49:332-340.

J. Zhao, P. D. Schloss, L. M. Kalikin, L. A. Carmody, B. K. Foster, J. F. Petrosino, J. D. Cavalcoli, D. R. VanDevanter, S. Murray, J. Z. Li, V. B. Young, J. J. LiPuma. (2012) Decade-long bacterial community dynamics in cystic fibrosis airways, PNAS. 109(15):5809-14,

J. Zhao, L. A. Carmody, L. M. Kalikin, J. Li, J. F. Petrosino, P. D. Schloss, V. B. Young, J. J. LiPuma. (2012) Impact of Enhanced Staphylococcus DNA Extraction on Microbial Community Measures in Cystic Fibrosis Sputum. PLoS ONE 7(3): e33127. doi:10.1371 

2007-2011

K. Desch, J. Li, S. Kim, N. Laventhal, K. Metzger, D. Siemieniak, D. Ginsburg. (2011) Analysis of informed consent document utilization in a minimal-risk genetic study. Ann Intern Med. 155(5):316-22.

The Psychiatric GWAS Consortium (including J. Li). (2011) Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nature Genetics, 43: 977–983.

The Cancer Genome Atlas Research Network (including J. Li). (2011) Integrated Genomic Analyses of Ovarian Carcinoma. Nature, 474:609-15.

T. Pemberton, C. Wang, J. Z. Li, N. A. Rosenberg. (2010) Inference of unexpected genetic relatedness among individuals in HapMap Phase III. American Journal of Human Genetics. 87(4): 457-464.

Casto AM, Li JZ, Absher D, Myers R, Ramachandran S, Feldman MW. (2010) Characterization of X-linked SNP genotypic variation in globally distributed human populations. Genome Biol. 11(1):R10. PMID: 20109212

N. Zhang, Y. Senbabaoglu, and J. Z. Li, (2010). Joint Estimation of DNA Copy Number from Multiple Platforms. Bioinformatics, 26(2):153-60.

N. Zhang, D. Siegmund, H. Ji, and J. Z. Li, (2009). Detecting simultaneous change points in multiple sequences. Biometrika, 97(3):631-645

L. J. Scott, P. Muglia, X. Kong, W. Guan, M. Flickinger, R.i Upmanyu, F. Tozzi, J. Li, M. Burmeister, D. Absher, R. C. Thompson, C. Francks, F. Meng, A. Antoniades, A. M. Southwick, A. Schatzberg, W. Bunney, J. Barchas, E. Jones, R. Day, K. Matthews, P. McGuffin, J. S. Strauss, J. L. Kennedy, L. Middleton, A. Roses, S. J. Watson, J. B. Vincent, R. M. Myers, A. E. Farmer, H. Akil, D. K. Burns, M. Boehnke. (2009). Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A. 106(18):7501-7506

J. K. Pickrell, G. Coop, J. Novembre, S.r Kudaravalli, J. Li, D. Absher, B.S. Srinivasan, G. S. Barsh, R. M. Myers, M. W. Feldman, J. K. Pritchard. (2009). Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19(5):826-37

K. A. McGowan, J. Z. Li, C. Y. Park, V. Beaudry, H. K. Tabor, A. J. Sabnis, W. Zhang, H. Fuchs, M. H. de Angelis, R. M. Myers, L. D. Attardi G. S. Barsh. (2008) Genetics of dark skin: ribosomal protein mutations act through p53. Nat Genet. 40(8):963-70.

The Cancer Genome Atlas Research Network (including J. Li). (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 255:1061-8.

J. Z. Li*, D. M. Absher*, H. Tang, A. M. Southwick, A. M. Casto, S. Ramachandran, H. M. Cann, G. S. Barsh, M. Feldman, L. L. Cavalli-Sforza, R. M. Myers. (2008). Worldwide human relationships inferred from genome-wide patterns of variation. Science, 319:1100-1104.

J. Z. Li, F. Meng, L. Tsavaler, S. J. Evans, P. V. Choudary, H. Tomita, M. P. Vawter, D. Walsh, V. Shokoohi, T. Chung, W. E. Bunney Jr., E. G. Jones, H. Akil, S. J. Watson, R. M. Myers (2007). Sample matching by inferred agonal stress in gene expression analyses of the brain. BMC Genomics, 8:336

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