Yi-Ju Li | Scholars@Duke

Yi-Ju Li
Associate Professor of Biostatistics and Bioinformatics

My research interest is in statistical genetics, primarily in statistical method development and its application for genetic research of human complex diseases. Here is the list of research topics:

Statistical genetics: I have involved in the development of several family-based association methods for quantitative traits with or without censoring, and for detecting X-linked genes. With the availability of next generation sequencing data, we have ongoing projects to develop the association methods for testing rare variants in terms of censored phenotype and multiple traits.
Genetics of Fuchs dystrophy, myopia, Alzheimer, and Parkinson diseases.
Perioperative genomic studies. Investigate the genetic risk factors for postoperative outcomes of patients underwent non-emergent coronary artery bypass grafting with cardiopulmonary bypass.

Current Appointments & Affiliations

Associate Professor of Biostatistics and Bioinformatics, Biostatistics & Bioinformatics, Basic Science Departments 2010
Associate Professor in Medicine, Duke Molecular Physiology Institute, Duke Molecular Physiology Institute 2010
Member of Duke Molecular Physiology Institute, Duke Molecular Physiology Institute, Duke Molecular Physiology Institute 2014

Contact Information

300 North Duke Street, 47-122 Carmichael Warehouse, Durham, NC 27701
Duke Box 104775, Durham, NC 27708
yiju.li@duke.edu (919) 684-0604

Background
Education, Training, & Certifications
- Ph.D., North Carolina State University 1996
Duke Appointment History
- Assistant Professor of Biostatistics and Bioinformatics, Biostatistics & Bioinformatics, Basic Science Departments 2008 - 2010
- Assistant Professor of Medicine, Duke Molecular Physiology Institute, Duke Molecular Physiology Institute 2008 - 2010
- Assistant Professor in Medicine, Duke Molecular Physiology Institute, Duke Molecular Physiology Institute 2006 - 2008
- Assistant Professor of Biostatistics and Bioinformatics, Biostatistics & Bioinformatics, Basic Science Departments 2007 - 2008
- Assistant Research Professor in Medicine, Duke Molecular Physiology Institute, Duke Molecular Physiology Institute 2002 - 2006
- Instructor, Temporary in the Department of Medicine, Duke Molecular Physiology Institute, Duke Molecular Physiology Institute 2002
Expertise
Subject Headings
Research
Selected Grants
- Cognitive Effects of Body Temperature During Hypothermic Circulatory Arrest awarded by National Institutes of Health 2016 - 2021
- Qualification of Prognostic and Diagnostic Biomarkers of Knee Osteoarthritis awarded by National Institutes of Health 2017 - 2020
- A hands-on, integrative next-generation sequencing course: design, experiment, and analysis awarded by National Institutes of Health 2016 - 2019
- Platelets as regulators of inflammation and tissue injury after cardiac surgery awarded by American Heart Association 2015 - 2018
- Duke CTSA (UL1) awarded by National Institutes of Health 2013 - 2018
- Thymic Transplantation in Complete DiGeorge Syndrome awarded by National Institutes of Health 2004 - 2016
- Biomarkers of the Response to CBT for Insomnia in Major Depression awarded by National Institutes of Health 2009 - 2014
- Non Muscle Myosin II Contractility Putatively Regulates Scar Contracture awarded by National Institutes of Health 2008 - 2013
- Study of Genetic Basis of Fuchs Corneal Dystrophy awarded by National Institutes of Health 2007 - 2013
- CTSA UL awarded by National Institutes of Health 2006 - 2012
- Analysis of the Whole Genome CNV and SNP Data for Myopia from the SCORM Cohort awarded by National Institutes of Health 2008 - 2012
- Genotype-Phenotype Correlations in Primary Congenital Glaucoma awarded by National Institutes of Health 2010 - 2011
- International Collaborative Twin Study of Refractive and Glaucoma Endophenotypes awarded by National Institutes of Health 2007 - 2011
- Phase I Serum-free cultured thymus transplantation in DiGeorge anomaly, IND9836, Feb 5, 2008 awarded by National Institutes of Health 2009 - 2011
- Thymic Transplantation in Complete DiGeorge Syndrome awarded by National Institutes of Health 2009 - 2010
- The Molecular Genetics of High Myopia awarded by National Institutes of Health 2005 - 2009
- Genetic Analysis Methods for Medical Researchers awarded by National Institutes of Health 1994 - 2007
- Statistical tests for association with X-linked genes awarded by National Institutes of Health 2005 - 2007
- An integrated genomic approach to Alzheimer Disease awarded by National Institutes of Health 2002 - 2007
- Unifying Genetics Epidemiology of Macular Degeneration awarded by National Institutes of Health 2000 - 2007
- Genomic Screen to Identify Alzheimers Disease Genes awarded by National Institutes of Health 1997 - 2007
- General Clinical Research Center awarded by National Institutes of Health 1998 - 2006
Publications & Artistic Works
Selected Publications
- Book Sections
  - Li, YJ, Li, YJ, and Fan, Q. "Statistical analysis of genome-wide association studies for myopia." In Myopia: Animal Models to Clinical Trials, 244-267. January 1, 2010. Full Text
  - Li, YJ, Shao, S, and Speer, M. "Sample Size and Power." In Genetic Analysis of Complex Diseases: Second Edition, 355-396. October 7, 2005. Full Text
- Journal Articles
  - Afshari, NA, Igo, RP, Morris, NJ, Stambolian, D, Sharma, S, Pulagam, VL, Dunn, S, Stamler, JF, Truitt, BJ, Rimmler, J, Kuot, A, Croasdale, CR, Qin, X, Burdon, KP, Riazuddin, SA, Mills, R, Klebe, S, Minear, MA, Zhao, J, Balajonda, E, Rosenwasser, GO, Baratz, KH, Mootha, VV, Patel, SV, Gregory, SG, Bailey-Wilson, JE, Price, MO, Price, FW, Craig, JE, Fingert, JH, Gottsch, JD, Aldave, AJ, Klintworth, GK, Lass, JH, Li, Y-J, and Iyengar, SK. "Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy." Nature communications 8 (March 30, 2017): 14898-. Full Text
  - Jiang, Y, Ji, Y, Sibley, AB, Li, Y-J, and Allen, AS. "Leveraging population information in family-based rare variant association analyses of quantitative traits." Genetic epidemiology 41, no. 2 (February 2017): 98-107. Full Text
  - Kertai, MD, Cheruku, S, Qi, W, Li, Y-J, Hughes, GC, Mathew, JP, and Karhausen, JA. "Mast cell activation and arterial hypotension during proximal aortic repair requiring hypothermic circulatory arrest." The Journal of thoracic and cardiovascular surgery 153, no. 1 (January 2017): 68-76.e2. Full Text Open Access Copy
  - Oprea, AD, Lombard, FW, Liu, W-W, White, WD, Karhausen, JA, Li, Y-J, Miller, TE, Aronson, S, Gan, TJ, Fontes, ML, and Kertai, MD. "Baseline Pulse Pressure, Acute Kidney Injury, and Mortality After Noncardiac Surgery." Anesthesia and analgesia 123, no. 6 (December 2016): 1480-1489. Full Text Open Access Copy
  - Kertai, MD, Zhou, S, Karhausen, JA, Cooter, M, Jooste, E, Li, Y-J, White, WD, Aronson, S, Podgoreanu, MV, Gaca, J, Welsby, IJ, Levy, JH, Stafford-Smith, M, Mathew, JP, and Fontes, ML. "In Reply." Anesthesiology 125, no. 2 (August 2016): 438-439. Full Text
  - Berger, M, Nadler, JW, Friedman, A, McDonagh, DL, Bennett, ER, Cooter, M, Qi, W, Laskowitz, DT, Ponnusamy, V, Newman, MF, Shaw, LM, Warner, DS, Mathew, JP, James, ML, and MAD-PIA trial team, . "The Effect of Propofol Versus Isoflurane Anesthesia on Human Cerebrospinal Fluid Markers of Alzheimer's Disease: Results of a Randomized Trial." Journal of Alzheimer's disease : JAD 52, no. 4 (April 15, 2016): 1299-1310. Full Text Open Access Copy
  - Kertai, MD, Ji, Y, Li, Y-J, Mathew, JP, Daubert, JP, Podgoreanu, MV, and PEGASUS Investigative Team, . "Interleukin-1β gene variants are associated with QTc interval prolongation following cardiac surgery: a prospective observational study." Canadian journal of anaesthesia = Journal canadien d'anesthesie 63, no. 4 (April 2016): 397-410. Full Text
  - Kertai, MD, Qi, W, Li, Y-J, Lombard, FW, Liu, Y, Smith, MP, Stafford-Smith, M, Newman, MF, Milano, CA, Mathew, JP, Podgoreanu, MV, and Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team, . "Gene signatures of postoperative atrial fibrillation in atrial tissue after coronary artery bypass grafting surgery in patients receiving β-blockers." Journal of molecular and cellular cardiology 92 (March 2016): 109-115. Full Text
  - Kertai, MD, Zhou, S, Karhausen, JA, Cooter, M, Jooste, E, Li, Y-J, White, WD, Aronson, S, Podgoreanu, MV, Gaca, J, Welsby, IJ, Levy, JH, Stafford-Smith, M, Mathew, JP, and Fontes, ML. "Platelet Counts, Acute Kidney Injury, and Mortality after Coronary Artery Bypass Grafting Surgery." Anesthesiology 124, no. 2 (February 2016): 339-352. Full Text Open Access Copy
  - Sandoval, JS, Steward, RG, Chen, C, Li, YJ, Price, TM, and Muasher, SJ. "High peak estradiol/mature oocyte ratio predicts lower clinical pregnancy, ongoing pregnancy, and live birth rates in GnRH antagonist intracytoplasmic sperm injection cycles." Journal of Reproductive Medicine 61, no. 1 (February 1, 2016): 11-16.
  - Feng, L, Ransom, CE, Nazzal, MK, Allen, TK, Li, Y-J, Truong, T, Potts, LC, Seed, PC, and Murtha, AP. "The Role of Progesterone and a Novel Progesterone Receptor, Progesterone Receptor Membrane Component 1, in the Inflammatory Response of Fetal Membranes to Ureaplasma parvum Infection." PloS one 11, no. 12 (January 2016): e0168102-. Full Text
  - Sandoval, JS, Steward, RG, Chen, C, Li, Y-J, Price, TM, and Muasher, SJ. "High Peak Estradiol/Mature Oocyte Ratio Predicts Lower Clinical Pregnancy, Ongoing Pregnancy, and Live Birth Rates in GnRH Antagonist Intracytoplasmic Sperm Injection Cycles." The Journal of reproductive medicine 61, no. 1-2 (January 2016): 11-16.
  - Steward, RG, Zhang, CE, Shah, AA, Yeh, JS, Chen, C, Li, YJ, Price, TM, and Muasher, SJ. "High peak estradiol predicts higher miscarriage and lower live birth rates in high responders triggered with a gnrh agonist in IVF/ICSI cycles." Journal of Reproductive Medicine 60, no. 6 (December 1, 2015): 463-470.
  - Steward, RG, Zhang, CE, Shah, AA, Yeh, JS, Chen, C, Li, Y-J, Price, TM, and Muasher, SJ. "High Peak Estradiol Predicts Higher Miscarriage and Lower Live Birth Rates in High Responders Triggered with a GnRH Agonist in IVF/ICSI Cycles." The Journal of reproductive medicine 60, no. 11-12 (November 2015): 463-470.
  - Stafford-Smith, M, Li, Y-J, Mathew, JP, Li, Y-W, Ji, Y, Phillips-Bute, BG, Milano, CA, Newman, MF, Kraus, WE, Kertai, MD, Shah, SH, Podgoreanu, MV, and Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team, . "Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci." Kidney international 88, no. 4 (October 2015): 823-832. Full Text Open Access Copy
  - Kertai, MD, Li, Y-J, Ji, Y, Qi, W, Lombard, FW, Shah, SH, Kraus, WE, Stafford-Smith, M, Newman, MF, Milano, CA, Waldron, N, Podgoreanu, MV, Mathew, JP, and Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team, . "Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery." American heart journal 170, no. 3 (September 2015): 580-90.e28. Full Text
  - Law, LS-C, Tan, M, Bai, Y, Miller, TE, Li, Y-J, and Gan, T-J. "Paravertebral Block for Inguinal Herniorrhaphy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials." Anesthesia and analgesia 121, no. 2 (August 2015): 556-569. (Review) Full Text Open Access Copy
  - Bartels, K, Li, Y-J, Li, Y-W, White, WD, Laskowitz, DT, Kertai, MD, Stafford-Smith, M, Podgoreanu, MV, Newman, MF, and Mathew, JP. "Apolipoprotein epsilon 4 genotype is associated with less improvement in cognitive function five years after cardiac surgery: a retrospective cohort study." Canadian journal of anaesthesia = Journal canadien d'anesthesie 62, no. 6 (June 2015): 618-626. Full Text
  - Kertai, MD, Li, Y-J, Li, Y-W, Ji, Y, Alexander, J, Newman, MF, Smith, PK, Joseph, D, Mathew, JP, Podgoreanu, MV, and Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team, . "Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery." BMJ Open 5, no. 5 (May 6, 2015): e006920-. Full Text Open Access Copy
  - Welsby, IJ, and Li, Y-J. "Invited commentary." The Annals of thoracic surgery 99, no. 3 (March 2015): 768-769. Full Text
  - Li, Y-J, Minear, MA, Qin, X, Rimmler, J, Hauser, MA, Allingham, RR, Igo, RP, Lass, JH, Iyengar, SK, Klintworth, GK, Afshari, NA, Gregory, SG, and FECD Genetics Consortium, . "Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy." Investigative ophthalmology & visual science 55, no. 7 (June 10, 2014): 4577-4584. Full Text
  - Zhu, L, Wang, X, Li, X-L, Towers, A, Cao, X, Wang, P, Bowman, R, Yang, H, Goldstein, J, Li, Y-J, and Jiang, Y-H. "Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders." Human molecular genetics 23, no. 6 (March 2014): 1563-1578. Full Text
  - Minear, MA, Li, Y-J, Rimmler, J, Balajonda, E, Watson, S, Allingham, RR, Hauser, MA, Klintworth, GK, Afshari, NA, and Gregory, SG. "Genetic screen of African Americans with Fuchs endothelial corneal dystrophy." MOLECULAR VISION 19 (December 12, 2013): 2508-2516. Link to Item
  - Tran-Viet, K-N, Powell, C, Barathi, VA, Klemm, T, Maurer-Stroh, S, Limviphuvadh, V, Soler, V, Ho, C, Yanovitch, T, Schneider, G, Li, Y-J, Nading, E, Metlapally, R, Saw, S-M, Goh, L, Rozen, S, and Young, TL. "Mutations in SCO2 are associated with autosomal-dominant high-grade myopia." Am J Hum Genet 92, no. 5 (May 2, 2013): 820-826. Full Text Link to Item
  - Hawthorne, F, Feng, S, Metlapally, R, Li, Y-J, Tran-Viet, K-N, Guggenheim, JA, Malecaze, F, Calvas, P, Rosenberg, T, Mackey, DA, Venturini, C, Hysi, PG, Hammond, CJ, and Young, TL. "Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. (Published online)" Invest Ophthalmol Vis Sci 54, no. 3 (March 21, 2013): 2076-2086. Full Text Link to Item
  - Minear, MA, Li, Y-J, Rimmler, J, Balajonda, E, Watson, S, Allingham, RR, Hauser, MA, Klintworth, GK, Afshari, NA, and Gregory, SG. "Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. (Published online)" Mol Vis 19 (2013): 2508-2516. Link to Item
  - Nolan, D, Kraus, WE, Hauser, E, Li, Y-J, Thompson, DK, Johnson, J, Chen, H-C, Nelson, S, Haynes, C, Gregory, SG, Kraus, VB, and Shah, SH. "Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family. (Published online)" PLoS One 8, no. 8 (2013): e71779-. Full Text Open Access Copy Link to Item
  - Verhoeven, VJM, Hysi, PG, Saw, S-M, Vitart, V, Mirshahi, A, Guggenheim, JA, Cotch, MF, Yamashiro, K, Baird, PN, Mackey, DA, Wojciechowski, R, Ikram, MK, Hewitt, AW, Duggal, P, Janmahasatian, S, Khor, C-C, Fan, Q, Zhou, X, Young, TL, Tai, E-S, Goh, L-K, Li, Y-J, Aung, T, Vithana, E, Teo, Y-Y, Tay, W, Sim, X, Rudan, I, Hayward, C, Wright, AF, Polasek, O, Campbell, H, Wilson, JF, Fleck, BW, Nakata, I, Yoshimura, N, Yamada, R, Matsuda, F, Ohno-Matsui, K, Nag, A, McMahon, G, St Pourcain, B, and Lu, Y et al. "Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium." Hum Genet 131, no. 9 (September 2012): 1467-1480. Full Text Link to Item
  - Fan, Q, Barathi, VA, Cheng, C-Y, Zhou, X, Meguro, A, Nakata, I, Khor, C-C, Goh, L-K, Li, Y-J, Lim, W, Ho, CEH, Hawthorne, F, Zheng, Y, Chua, D, Inoko, H, Yamashiro, K, Ohno-Matsui, K, Matsuo, K, Matsuda, F, Vithana, E, Seielstad, M, Mizuki, N, Beuerman, RW, Tai, E-S, Yoshimura, N, Aung, T, Young, TL, Wong, T-Y, Teo, Y-Y, and Saw, S-M. "Genetic Variants on Chromosome 1q41 Influence Ocular Axial Length and High Myopia." PLOS GENETICS 8, no. 6 (June 2012). Full Text Link to Item
  - Abbott, D, Li, Y-J, Guggenheim, JA, Metlapally, R, Malecaze, F, Calvas, P, Rosenberg, T, Paget, S, Zayats, T, Mackey, DA, Feng, S, and Young, TL. "An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error." Mol Vis 18 (2012): 720-729. Link to Item
  - Lin, PH, Allen, JD, Li, YJ, Yu, M, Lien, LF, and Svetkey, LP. "Blood Pressure-Lowering Mechanisms of the DASH Dietary Pattern." Journal of nutrition and metabolism 2012 (2012): 472396-. (Academic Article) Full Text Open Access Copy
  - Rubio, DM, Junco, DJD, Bhore, R, Lindsell, CJ, Oster, RA, Wittkowski, KM, Welty, LJ, and Li, Y-J. "Correction: Evaluation metrics for biostatistical and epidemiological collaborations." Statistics in Medicine 31, no. 6 (2012): 600--. Full Text
  - Fan, Q, Zhou, X, Khor, C-C, Cheng, C-Y, Goh, L-K, Sim, X, Tay, W-T, Li, Y-J, Ong, RT-H, Suo, C, Cornes, B, Ikram, MK, Chia, K-S, Seielstad, M, Liu, J, Vithana, E, Young, TL, Tai, E-S, Wong, T-Y, Aung, T, Teo, Y-Y, and Saw, S-M. "Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism." PLOS GENETICS 7, no. 12 (December 2011). Full Text Link to Item
  - Mackey, DA, Hewitt, AW, Ruddle, JB, Vote, B, Buttery, RG, Toomes, C, Metlapally, R, Li, YJ, Tran-Viet, KN, Malecaze, F, Calvas, P, Rosenberg, T, Guggenheim, JA, and Young, TL. "Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family." MOLECULAR VISION 17, no. 229-31 (August 10, 2011): 2118-2128. Link to Item
  - Byrd, GS, Edwards, CL, Kelkar, VA, Phillips, RG, Byrd, JR, Pim Pong, DS, Starks, TD, Taylor, AL, Mckinley, RE, Li, YJ, and Pericak Vance, M. "Recruiting intergenerational African American males for biomedical research Studies: a major research challenge." Journal of the National Medical Association 103, no. 6 (June 2011): 480-487. (Academic Article)
  - Li, Y-J, Minear, MA, Rimmler, J, Zhao, B, Balajonda, E, Hauser, MA, Allingham, RR, Eghrari, AO, Riazuddin, SA, Katsanis, N, Gottsch, JD, Gregory, SG, Klintworth, GK, and Afshari, NA. "Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. (Published online)" PLoS One 6, no. 4 (April 20, 2011): e18044-. Full Text Link to Item
  - Li, Y-J, Goh, L, Khor, C-C, Fan, Q, Yu, M, Han, S, Sim, X, Ong, RT-H, Wong, T-Y, Vithana, EN, Yap, E, Nakanishi, H, Matsuda, F, Ohno-Matsui, K, Yoshimura, N, Seielstad, M, Tai, E-S, Young, TL, and Saw, S-M. "Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese." Ophthalmology 118, no. 2 (February 2011): 368-375. Full Text Link to Item
  - Rubio, DM, Junco, DJD, Bhore, R, Lindsell, CJ, Oster, RA, Wittkowski, KM, Welty, LJ, Li, Y-J, and Demets, D. "The end of the beginning: A commentary on 'Evaluation metrics for biostatistical and epidemiological collaborations': A rejoinder." Statistics in Medicine 30, no. 23 (2011): 2783-2784. Full Text
  - Rubio, DM, Junco, DJD, Bhore, R, Lindsell, CJ, Oster, RA, Wittkowski, KM, Welty, LJ, Li, Y-J, and Demets, D. "Evaluation metrics for biostatistical and epidemiological collaborations." Statistics in Medicine 30, no. 23 (2011): 2767-2777. Full Text
  - Hysi, PG, Young, TL, Mackey, DA, Andrew, T, Fernandez-Medarde, A, Solouki, AM, Hewitt, AW, Macgregor, S, Vingerling, JR, Li, Y-J, Ikram, MK, Fai, LY, Sham, PC, Manyes, L, Porteros, A, Lopes, MC, Carbonaro, F, Fahy, SJ, Martin, NG, van Duijn, CM, Spector, TD, Rahi, JS, Santos, E, Klaver, CCW, and Hammond, CJ. "A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25." NATURE GENETICS 42, no. 10 (October 2010): 902-+. Full Text Link to Item
  - Metlapally, R, Ki, C-S, Li, Y-J, Tran-Viet, K-N, Abbott, D, Malecaze, F, Calvas, P, Mackey, DA, Rosenberg, T, Paget, S, Guggenheim, JA, and Young, TL. "Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort." Invest Ophthalmol Vis Sci 51, no. 9 (September 2010): 4476-4479. Full Text Link to Item
  - Khor, CC, Fan, Q, Goh, L, Tan, D, Young, TL, Li, Y-J, Seielstad, M, Goh, DLM, and Saw, SM. "Support for TGFB1 as a Susceptibility Gene for High Myopia in Individuals of Chinese Descent." ARCHIVES OF OPHTHALMOLOGY 128, no. 8 (August 2010): 1081-1084. Link to Item
  - Macgregor, S, Hewitt, AW, Hysi, PG, Ruddle, JB, Medland, SE, Henders, AK, Gordon, SD, Andrew, T, McEvoy, B, Sanfilippo, PG, Carbonaro, F, Tah, V, Li, YJ, Bennett, SL, Craig, JE, Montgomery, GW, Tran-Viet, K-N, Brown, NL, Spector, TD, Martin, NG, Young, TL, Hammond, CJ, and Mackey, DA. "Genome-wide association identifies ATOH7 as a major gene determining human optic disc size." Hum Mol Genet 19, no. 13 (July 1, 2010): 2716-2724. Full Text Link to Item
  - Lu, Y, Dimasi, DP, Hysi, PG, Hewitt, AW, Burdon, KP, Toh, T, Ruddle, JB, Li, YJ, Mitchell, P, Healey, PR, Montgomery, GW, Hansell, N, Spector, TD, Martin, NG, Young, TL, Hammond, CJ, Macgregor, S, Craig, JE, and Mackey, DA. "Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. (Published online)" PLoS Genet 6, no. 5 (May 13, 2010): e1000947-. Full Text Link to Item
  - Dellinger, AE, Saw, S-M, Goh, LK, Seielstad, M, Young, TL, and Li, Y-J. "Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays." Nucleic Acids Res 38, no. 9 (May 2010): e105-. Full Text Open Access Copy Link to Item
  - Khor, CC, Fan, Q, Goh, L-K, Wong, TY, Li, Y-J, Cheung, N, Seielstad, M, Goh, DLM, Young, TL, Tai, E-S, and Saw, S-M. "Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese." Ophthalmology 117, no. 5 (May 2010): 939-945. Full Text Link to Item
  - Chen, H-C, Kraus, VB, Li, Y-J, Nelson, S, Haynes, C, Johnson, J, Stabler, T, Hauser, ER, Gregory, SG, Kraus, WE, and Shah, SH. "Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family." Arthritis Rheum 62, no. 3 (March 2010): 781-790. Full Text Link to Item
  - Lin, P-H, Miwa, S, Li, Y-J, Wang, Y, Levy, E, Lastor, K, and Champagne, C. "Factors influencing dietary protein sources in the PREMIER trial population." J Am Diet Assoc 110, no. 2 (February 2010): 291-295. Full Text Link to Item
  - Lu, Y, Dimasi, DP, Hysi, PG, Hewitt, AW, Burdon, KP, Toh, T, Ruddle, JB, Li, YJ, Mitchell, P, Healey, PR, Montgomery, GW, Hansell, N, Spector, TD, Martin, NG, Young, TL, Hammond, CJ, Macgregor, S, Craig, JE, and Mackey, DA. "Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness." PLoS genetics 6, no. 5 (2010): e1000947-. Full Text Open Access Copy
  - Riazuddin, SA, Zaghloul, NA, Al-Saif, A, Davey, L, Diplas, BH, Meadows, DN, Eghrari, AO, Minear, MA, Li, Y-J, Klintworth, GK, Afshari, N, Gregory, SG, Gottsch, JD, and Katsanis, N. "Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p." American journal of human genetics 86, no. 1 (January 2010): 45-53. Full Text
  - Liu, Y, Li, Y-J, Satten, GA, Allen, AS, and Tzeng, J-Y. "A regression-based association test for case-control studies that uses inferred ancestral haplotype similarity." Ann Hum Genet 73, no. Pt 5 (September 2009): 520-526. Full Text Link to Item
  - Metlapally, R, Li, Y-J, Tran-Viet, K-N, Abbott, D, Czaja, GR, Malecaze, F, Calvas, P, Mackey, D, Rosenberg, T, Paget, S, Zayats, T, Owen, MJ, Guggenheim, JA, and Young, TL. "COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus." Invest Ophthalmol Vis Sci 50, no. 9 (September 2009): 4080-4086. Full Text Link to Item
  - Li, Y-J, Guggenheim, JA, Bulusu, A, Metlapally, R, Abbott, D, Malecaze, F, Calvas, P, Rosenberg, T, Paget, S, Creer, RC, Kirov, G, Owen, MJ, Zhao, B, White, T, Mackey, DA, and Young, TL. "An international collaborative family-based whole-genome linkage scan for high-grade myopia." Invest Ophthalmol Vis Sci 50, no. 7 (July 2009): 3116-3127. Full Text Link to Item
  - Samanta, S, Li, Y-J, and Weir, BS. "Drawing inferences about the coancestry coefficient." Theor Popul Biol 75, no. 4 (June 2009): 312-319. (Review) Full Text Link to Item
  - Yanovitch, T, Li, Y-J, Metlapally, R, Abbott, D, Viet, K-NT, and Young, TL. "Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. (Published online)" Mol Vis 15 (May 20, 2009): 1028-1035. Link to Item
  - Metlapally, R, Michaelides, M, Bulusu, A, Li, Y-J, Schwartz, M, Rosenberg, T, Hunt, DM, Moore, AT, Züchner, S, Rickman, CB, and Young, TL. "Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies." Invest Ophthalmol Vis Sci 50, no. 4 (April 2009): 1552-1558. Full Text Link to Item
  - Zhang, L, Martin, ER, Morris, RW, and Li, Y-J. "Association test for X-linked QTL in family-based designs." Am J Hum Genet 84, no. 4 (April 2009): 431-444. Full Text Link to Item
  - Afshari, NA, Li, Y-J, Pericak-Vance, MA, Gregory, S, and Klintworth, GK. "Genome-wide linkage scan in fuchs endothelial corneal dystrophy." Invest Ophthalmol Vis Sci 50, no. 3 (March 2009): 1093-1097. Full Text Link to Item
  - Beecham, GW, Martin, ER, Li, Y-J, Slifer, MA, Gilbert, JR, Haines, JL, and Pericak-Vance, MA. "Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease." Am J Hum Genet 84, no. 1 (January 2009): 35-43. Full Text Link to Item
  - Li, B, Li, J, Hsieh, C-S, Hale, LP, Li, Y-J, Devlin, BH, and Markert, ML. "Characterization of cultured thymus tissue used for transplantation with emphasis on promiscuous expression of thyroid tissue-specific genes." Immunol Res 44, no. 1-3 (2009): 71-83. Full Text Link to Item
  - Zayats, T, Yanovitch, T, Creer, RC, McMahon, G, Li, Y-J, Young, TL, and Guggenheim, JA. "Myocilin polymorphisms and high myopia in subjects of European origin." Mol Vis 15 (2009): 213-222. Link to Item
  - Chen, H-C, Shah, SH, Li, Y-J, Stabler, TV, Jordan, JM, and Kraus, VB. "Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels." Arthritis Rheum 58, no. 12 (December 2008): 3854-3864. Full Text Link to Item
  - Chen, H-C, Shah, S, Stabler, TV, Li, Y-J, and Kraus, VB. "Biomarkers associated with clinical phenotypes of hand osteoarthritis in a large multigenerational family: the CARRIAGE family study." Osteoarthritis Cartilage 16, no. 9 (September 2008): 1054-1059. Full Text Link to Item
  - Markert, ML, Devlin, BH, Chinn, IK, McCarthy, EA, and Li, YJ. "Factors affecting success of thymus transplantation for complete DiGeorge anomaly." Am J Transplant 8, no. 8 (August 2008): 1729-1736. Full Text Link to Item
  - Stafford-Smith, M, Patel, UD, Phillips-Bute, BG, Shaw, AD, and Swaminathan, M. "Acute kidney injury and chronic kidney disease after cardiac surgery." Adv Chronic Kidney Dis 15, no. 3 (July 2008): 257-277. (Review) Full Text Link to Item
  - Li, YW, Martin, ER, and Li, YJ. "EMK: a novel program for family-based allelic and genotypic association tests on quantitative traits." Ann Hum Genet 72, no. Pt 3 (May 2008): 388-396. Full Text Link to Item
  - Markert, ML, Li, J, Devlin, BH, Hoehner, JC, Rice, HE, Skinner, MA, Li, Y-J, and Hale, LP. "Use of allograft biopsies to assess thymopoiesis after thymus transplantation." J Immunol 180, no. 9 (May 1, 2008): 6354-6364. Link to Item
  - Zhang, L, Martin, ER, Chung, R-H, Li, Y-J, and Morris, RW. "X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design." Genet Epidemiol 32, no. 4 (May 2008): 370-380. Full Text Link to Item
  - Metlapally, R, Li, Y-J, Tran-Viet, K-N, Bulusu, A, White, TR, Ellis, J, Kao, D, and Young, TL. "Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (Published online)" Mol Vis 14 (March 4, 2008): 387-393. Link to Item
  - Chinn, IK, Devlin, BH, Li, Y-J, and Markert, ML. "Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly." Clin Immunol 126, no. 3 (March 2008): 277-281. Full Text Link to Item
  - Gao, X, Scott, WK, Wang, G, Mayhew, G, Li, YJ, Vance, JM, and Martin, ER. "Gene-gene interaction between FGF20 and MAOB in Parkinson disease." Ann Hum Genet 72, no. Pt 2 (March 2008): 157-162. Full Text Link to Item
  - Wang, G, van der Walt, JM, Mayhew, G, Li, Y-J, Züchner, S, Scott, WK, Martin, ER, and Vance, JM. "Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein." Am J Hum Genet 82, no. 2 (February 2008): 283-289. Full Text Link to Item
  - Hancock, DB, Martin, ER, Li, Y-J, and Scott, WK. "Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equations." Genet Epidemiol 31, no. 8 (December 2007): 883-893. Full Text Link to Item
  - Xu, P-T, Li, Y-J, Qin, X-J, Kroner, C, Green-Odlum, A, Xu, H, Wang, T-Y, Schmechel, DE, Hulette, CM, Ervin, J, Hauser, M, Haines, J, Pericak-Vance, MA, and Gilbert, JR. "A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease." Mol Cell Neurosci 36, no. 3 (November 2007): 313-331. Full Text Link to Item
  - Li, YJ, Deng, J, Mayhew, GM, Grimsley, JW, Huo, X, and Vance, JM. "Investigation of the PARK10 gene in Parkinson disease." Ann Hum Genet 71, no. Pt 5 (September 2007): 639-647. Full Text Link to Item
  - Chung, R-H, Morris, RW, Zhang, L, Li, Y-J, and Martin, ER. "X-APL: an improved family-based test of association in the presence of linkage for the X chromosome." Am J Hum Genet 80, no. 1 (January 2007): 59-68. Full Text Link to Item
  - Jadico, SK, Young, DA, Huebner, A, Edmond, JC, Pollock, AN, McDonald-McGinn, DM, Li, Y-J, Zackai, EH, and Young, TL. "Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations." J AAPOS 10, no. 6 (December 2006): 521-527. Full Text Link to Item
  - Kang, SJ, Scott, WK, Li, Y-J, Hauser, MA, van der Walt, JM, Fujiwara, K, Mayhew, GM, West, SG, Vance, JM, and Martin, ER. "Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease." Mov Disord 21, no. 12 (December 2006): 2175-2180. Full Text Link to Item
  - Li, Y-J, Xu, P, Qin, X, Schmechel, DE, Hulette, CM, Haines, JL, Pericak-Vance, MA, and Gilbert, JR. "A comparative analysis of the information content in long and short SAGE libraries. (Published online)" BMC Bioinformatics 7 (November 16, 2006): 504-. Full Text Link to Item
  - Hancock, DB, Martin, ER, Fujiwara, K, Stacy, MA, Scott, BL, Stajich, JM, Jewett, R, Li, Y-J, Hauser, MA, Vance, JM, and Scott, WK. "NOS2A and the modulating effect of cigarette smoking in Parkinson's disease." Ann Neurol 60, no. 3 (September 2006): 366-373. Full Text Link to Item
  - Li, Y-J, Scott, WK, Zhang, L, Lin, P-I, Oliveira, SA, Skelly, T, Doraiswamy, MP, Welsh-Bohmer, KA, Martin, ER, Haines, JL, Pericak-Vance, MA, and Vance, JM. "Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases." Neurobiol Aging 27, no. 8 (August 2006): 1087-1093. Full Text Link to Item
  - Allen, AS, Martin, ER, Qin, X, and Li, Y-J. "Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoring." Genet Epidemiol 30, no. 3 (April 2006): 248-258. Full Text Link to Item
  - Xu, P-T, Li, Y-J, Qin, X-J, Scherzer, CR, Xu, H, Schmechel, DE, Hulette, CM, Ervin, J, Gullans, SR, Haines, J, Pericak-Vance, MA, and Gilbert, JR. "Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease." Neurobiol Dis 21, no. 2 (February 2006): 256-275. Full Text Link to Item
  - Li, Y-J, Martin, ER, Zhang, L, and Allen, AS. "Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study. (Published online)" BMC Genet 6 Suppl 1 (December 30, 2005): S53-. Full Text Open Access Copy Link to Item
  - Martin, ER, Bronson, PG, Li, Y-J, Wall, N, Chung, R-H, Schmechel, DE, Small, G, Xu, P-T, Bartlett, J, Schnetz-Boutaud, N, Haines, JL, Gilbert, JR, and Pericak-Vance, MA. "Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease." J Med Genet 42, no. 10 (October 2005): 787-792. (Letter) Full Text Link to Item
  - Noureddine, MA, Li, Y-J, van der Walt, JM, Walters, R, Jewett, RM, Xu, H, Wang, T, Walter, JW, Scott, BL, Hulette, C, Schmechel, D, Stenger, JE, Dietrich, F, Vance, JM, and Hauser, MA. "Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra." Mov Disord 20, no. 10 (October 2005): 1299-1309. Full Text Link to Item
  - Oliveira, SA, Li, Y-J, Noureddine, MA, Zuchner, S, Qin, X, Pericak-Vance, MA, and Vance, JM. "Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease." Am J Hum Genet 77, no. 2 (August 2005): 252-264. Full Text Link to Item
  - Hauser, MA, Li, Y-J, Xu, H, Noureddine, MA, Shao, YS, Gullans, SR, Scherzer, CR, Jensen, RV, McLaurin, AC, Gibson, JR, Scott, BL, Jewett, RM, Stenger, JE, Schmechel, DE, Hulette, CM, and Vance, JM. "Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism." Arch Neurol 62, no. 6 (June 2005): 917-921. Full Text Link to Item
  - Noureddine, MA, Qin, X-J, Oliveira, SA, Skelly, TJ, van der Walt, J, Hauser, MA, Pericak-Vance, MA, Vance, JM, and Li, Y-J. "Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease." Hum Genet 117, no. 1 (June 2005): 27-33. Full Text Link to Item
  - Bammler, T, Beyer, RP, Bhattacharya, S, Boorman, GA, Boyles, A, Bradford, BU, Bumgarner, RE, Bushel, PR, Chaturvedi, K, Choi, D, Cunningham, ML, Deng, S, Dressman, HK, Fannin, RD, Farin, FM, Freedman, JH, Fry, RC, Harper, A, Humble, MC, Hurban, P, Kavanagh, TJ, Kaufmann, WK, Kerr, KF, Jing, L, Lapidus, JA, Lasarev, MR, Li, J, Li, Y-J, Lobenhofer, EK, Lu, X, Malek, RL, Milton, S, Nagalla, SR, O'malley, JP, Palmer, VS, Pattee, P, Paules, RS, Perou, CM, Phillips, K, Qin, L-X, Qiu, Y, and Quigley, SD et al. "Standardizing global gene expression analysis between laboratories and across platforms." Nat Methods 2, no. 5 (May 2005): 351-356. Full Text Link to Item
  - Bammler, T, Beyer, RP, Bhattacharya, S, Boorman, GA, Boyles, A, Bradford, BU, Bumgarner, RE, Bushel, PR, Chaturvedi, K, Choi, D, and al, E. "Standardizing global gene expression analysis between laboratories and across platforms." Nature Methods 2, no. 5 (2005): 1-6. Full Text
  - Boyles, AL, Scott, WK, Martin, ER, Schmidt, S, Li, Y-J, Ashley-Koch, A, Bass, MP, Schmidt, M, Pericak-Vance, MA, Speer, MC, and Hauser, ER. "Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing." Hum Hered 59, no. 4 (2005): 220-227. Full Text Link to Item
  - Li, Y-J, Pericak-Vance, MA, Haines, JL, Siddique, N, McKenna-Yasek, D, Hung, W-Y, Sapp, P, Allen, CI, Chen, W, Hosler, B, Saunders, AM, Dellefave, LM, Brown, RH, and Siddique, T. "Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis." Neurogenetics 5, no. 4 (December 2004): 209-213. Full Text Link to Item
  - Kraus, VB, Li, Y-J, Martin, ER, Jordan, JM, Renner, JB, Doherty, M, Wilson, AG, Moskowitz, R, Hochberg, M, Loeser, R, Hooper, M, and Sundseth, S. "Articular hypermobility is a protective factor for hand osteoarthritis." Arthritis Rheum 50, no. 7 (July 2004): 2178-2183. Full Text Link to Item
  - Li, YJ, Hauser, MA, Scott, WK, Martin, ER, Booze, MW, Qin, XJ, Walter, JW, Nance, MA, Hubble, JP, Koller, WC, Pahwa, R, Stern, MB, Hiner, BC, Jankovic, J, Goetz, CG, Small, GW, Mastaglia, F, Haines, JL, Pericak-Vance, MA, and Vance, JM. "Apolipoprotein E controls the risk and age at onset of Parkinson disease." Neurology 62, no. 11 (June 8, 2004): 2005-2009. Link to Item
  - Li, Y-L, Oliveira, SA, Xu, P, Martin, ER, Stenger, JE, Hulette, C, Scherzer, CR, Hauser, MA, Scott, WK, Small, GW, Nance, MA, Watts, RL, Hubble, JP, Koller, WC, Pahwa, R, Stern, MB, Hiner, BC, Jankovic, J, Goetz, CG, Mastaglia, F, Middleton, LT, Roses, AD, Saunders, AM, Welsh-Bohmer, KA, Schmechel, DE, Gullans, SR, Haines, JL, Gilbert, JR, Vance, JM, and Pericak-Vance, MA. "Erratum: Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease (Human Molecular Genetics (2003) vol. 12 (3259-3267))." Human Molecular Genetics 13, no. 5 (2004): 573--. Full Text
  - Li, Y-J, Oliveira, SA, Xu, P, Martin, ER, Stenger, JE, Scherzer, CR, Hauser, MA, Scott, WK, Small, GW, Nance, MA, Watts, RL, Hubble, JP, Koller, WC, Pahwa, R, Stern, MB, Hiner, BC, Jankovic, J, Goetz, CG, Mastaglia, F, Middleton, LT, Roses, AD, Saunders, AM, Schmechel, DE, Gullans, SR, Haines, JL, Gilbert, JR, Vance, JM, Pericak-Vance, MA, Hulette, C, and Welsh-Bohmer, KA. "Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease." Hum Mol Genet 12, no. 24 (December 15, 2003): 3259-3267. Full Text Link to Item
  - Hauser, MA, Li, Y-J, Takeuchi, S, Walters, R, Noureddine, M, Maready, M, Darden, T, Hulette, C, Martin, E, Hauser, E, Xu, H, Schmechel, D, Stenger, JE, Dietrich, F, and Vance, J. "Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage." Hum Mol Genet 12, no. 6 (March 15, 2003): 671-677. Link to Item
  - Li, Y-J, Tsoi, SC-M, Mannen, H, and Li, SS-L. "Erratum: Phylogenetic Analysis of Vertebrate Lactate Dehydrogenase (LDH) Multigene Families (Journal of Molecular Evolution (2002) 54 (614-624))." Journal of Molecular Evolution 57, no. 6 (2003): 745--. Full Text
  - Li, Y-J, Tsoi, SC-M, Mannen, H, and Shoei-lung Li, S. "Phylogenetic analysis of vertebrate lactate dehydrogenase (LDH) multigene families." J Mol Evol 54, no. 5 (May 2002): 614-624. Full Text Link to Item
  - Li, Y-J, Scott, WK, Hedges, DJ, Zhang, F, Gaskell, PC, Nance, MA, Watts, RL, Hubble, JP, Koller, WC, Pahwa, R, Stern, MB, Hiner, BC, Jankovic, J, Allen, FA, Goetz, CG, Mastaglia, F, Stajich, JM, Gibson, RA, Middleton, LT, Saunders, AM, Scott, BL, Small, GW, Nicodemus, KK, Reed, AD, Schmechel, DE, Welsh-Bohmer, KA, Conneally, PM, Roses, AD, Gilbert, JR, Vance, JM, Haines, JL, and Pericak-Vance, MA. "Age at onset in two common neurodegenerative diseases is genetically controlled." Am J Hum Genet 70, no. 4 (April 2002): 985-993. Link to Item
  - Li, YJ, Satta, Y, and Takahata, N. "Paleo-demography of the Drosophila melanogaster subgroup: application of the maximum likelihood method." Genes Genet Syst 74, no. 4 (August 1999): 117-127. Link to Item
  - Satta, Y, Kupfermann, H, Li, YJ, and Takahata, N. "Molecular clock and recombination in primate Mhc genes." Immunol Rev 167 (February 1999): 367-379. (Review) Link to Item
  - Satta, Y, Li, YJ, and Takahata, N. "The neutral theory and natural selection in the HLA region. (Published online)" Front Biosci 3 (April 27, 1998): d459-d467. (Review) Link to Item
- Other Articles
  - Kertai, MD, Li, Y-W, Li, Y-J, Shah, SH, Kraus, WE, Fontes, ML, Stafford-Smith, M, Newman, MF, Podgoreanu, MV, Mathew, JP, and Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team, . "G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving β-blockers." Circulation. Cardiovascular genetics 7, no. 5 (October 2014): 625-633. Full Text
Teaching & Mentoring
Advising & Mentoring
- Former postdoctoral fellows: Andrew Dellinger, Yen-Wei Li, Yunqi Ji.
  Current postdoctoral fellow: Wenjing Qi

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Advising & Mentoring