Jun Li, Ph.D.


Professor of Human GeneticsProfessor & Associate Chair for Research of Computational Medicine and BioinformaticsFaculty, Center for Statistical Genetics; Comprehensive Cancer CenterMember, Depression Center; Michigan Diabetes Research Center; Michigan Metabolomics & Obesity CenterCo-Director, Michigan Center for Single-Cell Genomic Data Analytics
5940A Buhl1241 E. Catherine St. SPC 5618Ann Arbor, MI 48109-5618junzli@med.umich.edu734-615-5754
Jun Li Lab, 2019 Fall

Affiliations:

Department of Human Genetics
Department of Computational Medicine and Bioinformatics

Publications

2012 - Current

(Preprint) Nicole D Ulrich, Alex Vargo, Qianyi Ma, Yu-chi Shen, D. Ford Hannum, Stephen J. Gurczynski, Bethany B. Moore, Samantha Schon, Richard Lieberman, Ariella Shikanov, Erica E. Marsh, Asgerally Fazleabas, Jun Z Li*, Saher Sue Hammoud*. Cellular heterogeneity and dynamics of the human uterus in healthy premenopausal women. https://www.biorxiv.org/content/10.1101/2024.03.07.583985v1. 

MoTrPAC Study Group. Temporal dynamics of the multi-omic response to endurance exercise training. Nature. 2024 May; 629(8010):174-183. doi: 10.1038/s41586-023-06877-w. 

Andrea S.K. Jones, D. Ford Hannum, Jordan H. Machlin, Ansen Tan, Qianyi Ma, Nicole D. Ulrich, Yu-chi Shen, Maria Ciarelli, Vasantha Padmanabhan, Erica E. Marsh, Sue Hammoud, Jun Z. Li*, Ariella Shikanov*. Cellular atlas of the human ovary using morphologically guided spatial transcriptomics and single-cell sequencing, Science Advances, 2024 Apr 5;10(14): eadm7506. doi: 10.1126/sciadv.adm7506. PMCID: 10997207

Tristan V de Jong, Yanchao Pan, Pasi Rastas, Daniel Munro,  Monika Tutaj, … Robert W Williams, Jun Z Li*, Hao Chen*. A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats, Cell Genomics 2024. v4, 100527. PMCID:11019364.

Lindsay Moritz, Samantha B. Schon, Mashiat Rabbani, Yi Sheng, Ritvija Agrawal, Juniper GlassKlaiber, Caleb Sultan, Jeannie Camarillo, Jourdan Clements, Michael Baldwin, Adam Diehl, Alan P. Boyle, Patrick O’Brien, Kaushik Ragunathan, Yueh-Chiang Hu, Neil Kelleher, Jayakrishnan Nandakumar, Jun Z. Li, Kyle E. Orwig, Sy Redding, Saher Sue Hammoud. Sperm chromatin structure and reproductive fitness are altered by substitution of a single amino acid in mouse Protamine 1, Nature Structural & Molecular Biology, 2023. doi: 10.1038/s41594-023-01033-4.

Hadrian M Kinnear, Prianka H Hashim, Cynthia Dela Cruz, Faith L Chang, Gillian Rubenstein, Likitha Nimmagadda, Venkateswaran Ramamoorthi Elangovan, Andrea Jones, Margaret A Brunette, D Ford Hannum, Jun Z Li, Vasantha Padmanabhan, Molly B Moravek, Ariella Shikanov. Presence of ovarian stromal aberrations after cessation of testosterone therapy in a transgender mouse model. Biology of Reproduction. 2023. https://doi.org/10.1093/biolre/ioad019

Ming Luo, Yuxi Ma, Yongyou Zhu, Li Shang, Yan Qiu, Na Shen, Jonathan Wang, Tiffany Adam, Wei Wei, Qingxuan Song, Jun Z. Li, Max Wicha. LncRNA XIST Regulates Breast Cancer Stem Cells by Activating Proinflammatory IL-6/STAT3 Signaling, Oncogene. 2023. 42(18):1419-1437.

Johanna Y Fleischman, Nathan R Qi, Mary K Treutelaar, Steven L Britton, Lauren G Koch, Jun Z Li, Charles F Burant. Intrinsic cardiorespiratory fitness modulates clinical and molecular response to caloric restriction. Molecular Metabolism. 2023. doi: 10.1016/j.molmet.2023.101668. PM36642218

Apurva S Chitre, Elaine K Hebda-Bauer, Peter Blandino, Hannah Bimschleger, Khai-Minh Nguyen, Pamela Maras, Fei Li, A Bilge Ozel, Yanchao Pan, Oksana Polesskaya, Riyan Cheng, Shelly B Flagel, Stanley J Watson Jr, Jun Li, Huda Akil, Abraham A Palmer. Genome-wide association study in a rat model of temperament identifies multiple loci for exploratory locomotion and anxiety-like traits. Front Genet. 2023. 13:1003074. PMC9873817.

John Novembre, Catherine Stein, Samira Asgari, Claudia Gonzaga-Jauregui, Andrew Landstrom, Amy Lemke, Jun Li, Chloe Mighton, Matthew Taylor, Sarah Tishkoff. Addressing the challenges of polygenic scores in human genetic research. Am J Hum Genet. 2022 Dec 1;109(12):2095-2100. doi: 10.1016/j.ajhg.2022.10.012.

Mashiat Rabbani, Xianing Zheng, Gabe Manske, Adrienne Shami, Jun Z. Li*, Saher Sue Hammoud*, Decoding the Spermatogenesis Program: New Insights from Transcriptomic Analyses, Annual Reviews of Genetics. 2022. 56:339-368. PM36070560

Yu Wang, Andrew Starovoytov, Andrea M. Murad, Kristina L. Hunker, Liam R. Brunham, Jun Z. Li, Jacqueline Saw, Santhi K. Ganesh, Increased burden of rare genetic variants in spontaneous coronary-artery dissection with high-risk feature, JAMA Cardiology. 2022. 7(10):1045-1055, PMC9475437.

Nicole D Ulrich, Yu-chi Shen, Qianyi Ma, Kun Yang, D Ford Hannum, Andrea Jones, Jordan Machlin, John F Randolph Jr, Yolanda R Smith, Samantha B Schon, Ariella Shikanov, Erica E. Marsh, Jun Z Li*, Saher Sue Hammoud*. Cellular heterogeneity of human fallopian tubes in normal and hydrosalpinx disease states identified using scRNA-seq. Developmental Cell. 2022. S1534-5807(22)00119-8

Alexander Katz, Min-Lee Yang, Michael Levin, Catherine Tcheandjieu, Michael Mathis, Kristina Hunker, Susan Blackburn, Jonathan Eliason, Dawn Coleman, Natalia Fendrikova-Mahlay, Heather Gornik, Monita Karmakar, Hannah Hill, Chang Xu, Matthew Zawistowski, Chad Brummett, Sebastian Zöllner, Xiang Zhou, Christopher O'Donnell, Julie Douglas, Themistocles Assimes, Philip Tsao, Jun Li, Scott Damrauer, James Stanley, and Santhi Ganesh. Fibromuscular dysplasia and abdominal aortic aneurysms are dimorphic sex-specific diseases with shared complex genetic architecture. Circulation: Genomic and Precision Medicine. In Press, 2022

Lloyd, J. P., Soellner, M. B., Merajver, S. D., & Li, J. Z. (2021). Impact of between-tissue differences on pan-cancer predictions of drug sensitivity. PLOS Computational Biology, 17(2), e1008720. https://doi.org/10.1371/journal.pcbi.1008720

Jacqueline Saw, Min-Lee Yang, Mark Trinder, Catherine Tcheandjieu, Chang Xu, Andrew Starovoytov, Isabelle Birt, Michael R. Mathis, Kristina L. Hunker, Ellen M. Schmidt, Linda Jackson, Natalia Fendrikova-Mahlay, Matthew Zawistowski, Chad M. Brummett, Sebastian Zoellner, Alexander Katz, Dawn Coleman, Kirby Swan, Christopher J. O’Donnell, Million Veteran Program, Xiang Zhou, Jun Z. Li, Heather L. Gornik, Themistocles L. Assimes, James C. Stanley, Liam R. Brunham, Santhi K.Ganesh. Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery 1 dissection and myocardial infarction. Nature Communications, In Press.

Yinghua Li*, Bo Li*, Wei Li*, Yuan Wang, Seçkin Akgül, Daniel M. Treisman, Kevin A Heist, Brianna R. Pierce, Benjamin Hoff, Cheng-Ying Ho, David O Ferguson, Alnawaz Rehemtulla, Siyuan Zheng, Brian D Ross, Jun Z. Li, Yuan Zhu. Murine models of IDH-wild-type glioblastoma exhibit a unique evolutionary pattern with spatial segregation of tumor initiation and manifestation. Nature Communications, In Press.

Preprint Hailey Larose, Travis Kent, Qianyi Ma, Adrienne Shami, Jun Li, MaryAnn Handel, Saher Sue Hammoud Regulation of meiotic progression by Sertoli-cell androgen signaling.  https://www.biorxiv.org/content/10.1101/2020.05.26.117093v1.

Yu-chi Shen, Hailey Larose, Adrienne Niederriter Shami, Lindsay Moritz, Gabriel L. Manske, Qianyi Ma, Xianing Zheng, Meena Sukhwani, Michael Czerwinski, Caleb Sultan, Jourdan Clements, Haolin Chen, Jason R. Spence, Kyle E. Orwig, Michelle Tallquist, Jun Z. Li, Saher Sue Hammoud. Tcf21+ mesenchymal cells contribute to testis somatic cell development, homeostasis, and regeneration.https://www.biorxiv.org/content/10.1101/2020.05.02.074518v1.

John P. Lloyd, Matthew Soellner*, Sofia D. Merajver*+, Jun Z. Li*+: [Preprint] Pan-cancer predictions of MEK inhibitor sensitivity are partially driven by between-tissue differences. BioRxiv 800193;https://doi.org/10.1101/800193. 2019

Julie Richer, Hannah Hill, Yu Wang, Min-Lee Yang, Kristina Hunker, Jamie Lane, Susan Blackburn, Dawn Coleman, Jonathan Eliason, Guillaume Sillon, Maria-Daniela D'Agostino, Prasad Jetty, François-Pierre Mongeon, AnneMarie Laberge, Stephen Ryan, Natalia Fendrikova-Mahlay, Thais Coutinho, Michael Mathis, Matthew Zawistowski, Stanley Hazen, Alexander Katz, Heather Gornik, Chad Brummett, Gonçalo Abecasis, Ingrid Bergin, James Stanley, Jun Li, and Santhi Ganesh. COL5A1 p.Gly514Ser is associated with a dysplasia-associated arterial disease overlapping vascular Ehlers-Danlos Syndrome and fibromuscular dysplasia, Arteriosclerosis, Thrombosis, and Vascular Biology, In Press.

Jaqueline J. Brito, Jun Li, Jason H. Moore, Casey S. Greene, Nicole A. Nogoy, Lana X. Garmire, Serghei Mangul. Recommendations to enhance rigor and reproducibility in biomedical research, GigaScience, In Press

Adrienne N. Shami, Xianing Zheng, Sarah K. Munyoki, Qianyi Ma, Gabriel L. Manske, Christopher D. Green, Meena Sukhwani, Kyle E. Orwig*, Jun Z. Li1*, Saher Sue Hammoud*. Single-cell RNA sequencing of human, macaque, and mouse testes uncovers conserved and divergent features of mammalian spermatogenesis, Development Cell, In Press.

Karl Desch, Alison Michels, Laura Swystun, Ayse B. Ozel, Matt Halvorsen, Paula Jacobi, Krista Golden, Marine Germain, David Tregouet, Pieter Reitsma, Clive Kearon, Lauren Morky, Brent Richards, Frances Williams, Jun Z. Li, David Goldstein, David Lillicrap, David Ginsburg. Whole exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease, Blood, In Press

Stepien DM, Hwang C, Marini S, Pagani CA, Sorkin M, Visser ND, Huber AK, Edwards NJ, Loder SJ, Vasquez K, Aguilar CA, Kumar R, Mascharak S, Longaker MT, Li J, Levi B. Tuning Macrophage Phenotype to Mitigate Skeletal Muscle Fibrosis. J Immunol. 204(8):2203-2215 (2020)

X. Xiong, H. Kuang, S. Ansari, T. Liu, J. Gong, S. Wang, X.-Y. Zhao, Y. Ji, C. Li, L. Guo, L. Zhou, Z. Chen, P. Leon-Mimila, M. T. Chung, K. Kurabayashi, J. Opp, F. Campos-Pérez, H. Villamil-Ramírez, S. Canizales-Quinteros, R. Lyons, C. N. Lumeng, B. Zhou, L. Qi, A. Huertas-Vazquez, A. J. Lusis, X. Z. S. Xu, S. Li, Y. Yu, J. Z. Li, J. D. Lin, Landscape of Intercellular Crosstalk in Healthy and NASH Liver Revealed by Single-Cell Secretome Gene Analysis. Molecular Cell. 75, 644-660.e5 (2019).

Charles Hwang, Simone Marini, Amanda Huber, David Stepien, Michael Sorkin, Shawn Loder, Chase Pagani, John Li, Noelle Visser, Kaetlin Vasquez, Mohamed Garada, Shuli Li, Jiajia Xu, Ching Hsu, Paul Yu, Aaron James, Yuji Mishina, Shailesh Agarwal, Jun Li, Ben Levi.  Mesenchymal VEGFA induces aberrant differentiation in heterotopic ossification, Bone Research, 10;7:36 (2019)

Khoriaty R, Ozel AB, Ramdas S, et al. Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia. Br J Haematol. 2019

Garnai SJ, Brinkmeier ML, Emery B, et al. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PLoS Genet. 2019;15(5):e1008130

Caglayan AO, Gumus H, Sandford E, Kubisiak TL, Ma Q, Ozel AB, Per H, Li JZ, Shakkottai VG, Burmeister M: COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration. Cerebellum: 2019. PM30847826

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 Scientific Data. Accepted, 2019.

Carlson J, Li JZ, Zöllner S: Helmsman: fast and efficient mutation signature analysis for massive sequencing datasets. BMC Genomics 19(1): 845, 2018. PM30486787/PMC6263557

Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB: Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet: 2018. PM30450527

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