Yi Ju Li

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. pmc Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
    Andrew E Dellinger
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Nucleic Acids Res 38:e105. 2010
  2. ncbi request reprint Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis
    Yi Ju Li
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    Neurogenetics 5:209-13. 2004
  3. ncbi request reprint Investigation of the PARK10 gene in Parkinson disease
    Y J Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Ann Hum Genet 71:639-47. 2007
  4. pmc Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy
    Yi Ju Li
    Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, United States of America
    PLoS ONE 6:e18044. 2011
  5. pmc A comparative analysis of the information content in long and short SAGE libraries
    Yi Ju Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    BMC Bioinformatics 7:504. 2006
  6. pmc Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study
    Yi Ju Li
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    BMC Genet 6:S53. 2005
  7. pmc An international collaborative family-based whole-genome linkage scan for high-grade myopia
    Yi Ju Li
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Invest Ophthalmol Vis Sci 50:3116-27. 2009
  8. pmc Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases
    Yi Ju Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
    Neurobiol Aging 27:1087-93. 2006
  9. ncbi request reprint Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
    Yi Ju Li
    Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
    Hum Mol Genet 12:3259-67. 2003
  10. ncbi request reprint Apolipoprotein E controls the risk and age at onset of Parkinson disease
    Y J Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Neurology 62:2005-9. 2004

Collaborators

Detail Information

Publications49

  1. pmc Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
    Andrew E Dellinger
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Nucleic Acids Res 38:e105. 2010
    ..QuantiSNP outperformed other methods based on ROC curve residuals over most datasets. Nexus Rank and SNPRank have low specificity and high power. Nexus Rank calls oversized CNVs. PennCNV detects one of the fewest numbers of CNVs...
  2. ncbi request reprint Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis
    Yi Ju Li
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    Neurogenetics 5:209-13. 2004
    ..Similar to our previous report, we did not find APOE associated with ALS risk. Our findings suggest that APOE may express its strongest effect through age at onset rather than on risk...
  3. ncbi request reprint Investigation of the PARK10 gene in Parkinson disease
    Y J Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Ann Hum Genet 71:639-47. 2007
    ..Even though the sets of significant HIVEP3 markers differ between studies, these findings strongly support HIVEP3 as a candidate for PARK10. Further testing of HIVEP3 by other groups is encouraged...
  4. pmc Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy
    Yi Ju Li
    Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, United States of America
    PLoS ONE 6:e18044. 2011
    ..5 Mb proximal to rs613872. In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies...
  5. pmc A comparative analysis of the information content in long and short SAGE libraries
    Yi Ju Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    BMC Bioinformatics 7:504. 2006
    ..In addition, we generated two additional short SAGE libraries, the truncated long SAGE libraries (tSAGE), from LongSAGE libraries by deleting seven 5' basepairs from each LongSAGE tag...
  6. pmc Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study
    Yi Ju Li
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    BMC Genet 6:S53. 2005
    ..These two regions may harbor genes that regulate age at onset of ALDX1 and ALDX2. Future fine mapping of these two regions with densely spaced markers is warranted...
  7. pmc An international collaborative family-based whole-genome linkage scan for high-grade myopia
    Yi Ju Li
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Invest Ophthalmol Vis Sci 50:3116-27. 2009
    ..In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphisms (SNPs) in 254 families from five independent sites...
  8. pmc Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases
    Yi Ju Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
    Neurobiol Aging 27:1087-93. 2006
    ..These findings suggest the presence of genetic heterogeneity for GSTO1h's effect on AAO, and support GSTO1h's role in modifying AAO in these two disorders...
  9. ncbi request reprint Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
    Yi Ju Li
    Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
    Hum Mol Genet 12:3259-67. 2003
    ..This is provocative given reports of the possible role of inflammation in these two neurodegenerative disorders...
  10. ncbi request reprint Apolipoprotein E controls the risk and age at onset of Parkinson disease
    Y J Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Neurology 62:2005-9. 2004
    ..Most previous studies seeking to establish such a link used case-control datasets and results have been inconsistent...
  11. pmc Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease
    Sofia A Oliveira
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:252-64. 2005
    ..The known or putative functions of these genes fit well with the current suspected pathogenic mechanisms of PD and thus show great potential as candidates for the PARK10 locus...
  12. pmc An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error
    Diana Abbott
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Vis 18:720-9. 2012
    ..To investigate quantitative trait loci linked to refractive error, we performed a genome-wide quantitative trait linkage analysis using single nucleotide polymorphism markers and family data from five international sites...
  13. ncbi request reprint NOS2A and the modulating effect of cigarette smoking in Parkinson's disease
    Dana B Hancock
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Ann Neurol 60:366-73. 2006
    ..NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with cigarette smoking. We examined NOS2A for association with PD risk and age at onset (AAO) and for interaction with smoking...
  14. pmc Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort
    Ravikanth Metlapally
    Center for Human GeneticsDepartment of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, NC 27710, USA
    Invest Ophthalmol Vis Sci 51:4476-9. 2010
    ..This study was conducted to determine whether IGF-1 polymorphisms are associated with myopia in a large, international dataset of Caucasian high-grade myopia pedigrees...
  15. ncbi request reprint Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease
    Pu Ting Xu
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Neurobiol Dis 21:256-75. 2006
    ..These mechanisms may contribute increased risk for AD and for cognitive dysfunction in AD patients who carry the APOE4 allele(s)...
  16. ncbi request reprint Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra
    Maher A Noureddine
    Center for Human Genetics, Duke University, Durham, North Carolina 27710 2903, USA
    Mov Disord 20:1299-309. 2005
    ..The next step in the genomic convergence process will be to screen these 50 high-quality candidate genes for association with PD risk susceptibility and genetic effects on AAO...
  17. pmc Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing
    Abee L Boyles
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Hered 59:220-7. 2005
    ..Describe the inflation in nonparametric multipoint LOD scores due to inter-marker linkage disequilibrium (LD) across many markers with varied allele frequencies...
  18. pmc A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease
    Pu Ting Xu
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Cell Neurosci 36:313-31. 2007
    ..These findings may help define the mechanisms that APOE4 contribute that increase risk for AD and identify new candidate genes conferring susceptibility to AD...
  19. pmc Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family
    Daniel Nolan
    Center for Human Genetics, Duke University, Durham, North Carolina, United States of America
    PLoS ONE 8:e71779. 2013
    ..1). Identifying the causal variation underlying each linkage score will help to unravel the genetic architecture of these quantitative traits and, by extension, the genetic architecture of cardiovascular risk. ..
  20. pmc Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family
    Hsiang Cheng Chen
    Duke University Medical Center, Durham, NC 27710, USA
    Arthritis Rheum 62:781-90. 2010
    ..The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for OA...
  21. ncbi request reprint Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease
    Maher A Noureddine
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Genet 117:27-33. 2005
    ..Taken together, these results suggest a potential role for ELAVL4 as a modifier gene for AAO of PD...
  22. pmc Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2
    Felicia Hawthorne
    Duke Center for Human Genetics, Duke University, Durham, NC 27710, USA
    Invest Ophthalmol Vis Sci 54:2076-86. 2013
    ..Myopia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci have been identified. The high-grade myopia locus, MYP3, has been reported on chromosome 12q21-23 by four independent linkage studies...
  23. doi request reprint COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus
    Ravikanth Metlapally
    Center for Human Genetics, North Carolina, USA
    Invest Ophthalmol Vis Sci 50:4080-6. 2009
    ..This study was conducted to investigate whether these collagen genes are associated and/or genetically linked with myopia in large Caucasian family datasets...
  24. pmc Age at onset in two common neurodegenerative diseases is genetically controlled
    Yi Ju Li
    Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 70:985-93. 2002
    ..62. These data suggest that a common gene affects AAO in these two common complex neurodegenerative diseases...
  25. ncbi request reprint Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease
    Sun J Kang
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Mov Disord 21:2175-80. 2006
    ..02). No significant association was found in the male subset. Our results add to the evidence of involvement of MAOB in PD and suggest that the effect may be stronger in women...
  26. pmc Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia
    Ravikanth Metlapally
    Duke University Eye Center, Durham, NC, USA
    Mol Vis 14:387-93. 2008
    ....
  27. doi request reprint X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design
    Li Zhang
    Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA
    Genet Epidemiol 32:370-80. 2008
    ..In addition, estimation of disease-related marker relative risks provides a measure of the magnitude of X-linked genetic effects on complex disorders...
  28. ncbi request reprint Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoring
    Andrew S Allen
    Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina 27710, USA
    Genet Epidemiol 30:248-58. 2006
    ..The power and efficacy of the approach is illustrated through a series of simulation experiments in which the approach is compared to existing methods...
  29. ncbi request reprint Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage
    Michael A Hauser
    Center for Human Genetics, Duke University, Durham, NC 27710 2903, USA
    Hum Mol Genet 12:671-7. 2003
    ..These genes represent excellent candidates for PD susceptibility alleles and further genomic convergence and analyses...
  30. pmc Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein
    Gaofeng Wang
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 82:283-9. 2008
    ..We propose this is likely to be a common mechanism of genetic modulation of individual susceptibility to complex disease...
  31. ncbi request reprint Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism
    Michael A Hauser
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Arch Neurol 62:917-21. 2005
    ..Genes contributing to rare mendelian forms of PD have been identified, but the genes involved in the more common idiopathic PD are not well understood...
  32. ncbi request reprint Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equations
    Dana B Hancock
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Genet Epidemiol 31:883-93. 2007
    ..g., population stratification) and the interpretation of its OR estimates...
  33. doi request reprint Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies
    Ravikanth Metlapally
    Duke University Eye Center, Durham, North Carolina, USA
    Invest Ophthalmol Vis Sci 50:1552-8. 2009
    ..Genomic DNA from five pedigrees (with high myopia and either protanopia or deuteranopia) that mapped to Xq28 were screened for TEX28 copy number variations (CNVs) and sequence variants...
  34. pmc Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population
    Tammy Yanovitch
    Duke University Center for Human Genetics, 595 La Salle Street, Durham, NC 27710, USA
    Mol Vis 15:1028-35. 2009
    ..We examined whether these genes were associated with myopia in a Caucasian family dataset biased towards high myopia...
  35. pmc Genetic screen of African Americans with Fuchs endothelial corneal dystrophy
    Mollie A Minear
    Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC
    Mol Vis 19:2508-16. 2013
    ..Given the sparse literature on African Americans with FECD, we sought to characterize the genetic variation in three known FECD candidate genes in African American patients with FECD...
  36. ncbi request reprint Use of allograft biopsies to assess thymopoiesis after thymus transplantation
    M Louise Markert
    Department of Pediatrics, Duke University Medical Center, Research Park 4, Durham, NC 27710, USA
    J Immunol 180:6354-64. 2008
    ..In summary, combining biopsy and autopsy data, allogeneic thymus tissues showed thymopoiesis in 24 of 29 (86%) evaluable transplants. The results of these biopsies led to improved care of these complex patients...
  37. pmc Adjusting for covariates on a slippery slope: linkage analysis of change over time
    Evadnie Rampersaud
    Section of Medical Genetics, Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
    BMC Genet 4:S50. 2003
    ....
  38. pmc Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
    Khanh Nhat Tran-Viet
    Duke Center for Human Genetics, 905 S LaSalle Street, Durham, NC 27710, USA
    Am J Hum Genet 92:820-6. 2013
    ..Retinal thinning has been reported with an SC02 variant. Human mutation identification with support from an induced myopic animal provides biological insights of myopic development...
  39. pmc Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly
    Ivan K Chinn
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Clin Immunol 126:277-81. 2008
    ..This study provides in vitro evidence for long-term tolerance of complete DiGeorge anomaly thymus transplantation recipients toward their HLA-nonmatched thymus grafts...
  40. pmc Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese
    Yi Ju Li
    Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, USA
    Ophthalmology 118:368-75. 2011
    ..To determine susceptibility genes for high myopia in Singaporean Chinese...
  41. ncbi request reprint Phylogenetic analysis of vertebrate lactate dehydrogenase (LDH) multigene families
    Yi Ju Li
    Department of Biosystems Science, The Graduate University for Advanced Studies, Hayama, Kanagawa 240 0193, Japan
    J Mol Evol 54:614-24. 2002
    ..Other gene duplication events were also discovered in Xenopus, the first duplication occurring approximately 60-70 mya in both Ldh-A and Ldh-B, followed by another recent gene duplication event, approximately 20 mya, in Ldh-B...
  42. pmc Blood Pressure-Lowering Mechanisms of the DASH Dietary Pattern
    Pao Hwa Lin
    Division of Nephrology, Department of Medicine, Duke University Medical Center, Durham, NC, 27710, USA
    J Nutr Metab 2012:472396. 2012
    ..Early natriuresis and reductions in oxidative stress cannot be ruled out. Future studies are needed to verify these findings, assess the possibility of earlier effects, and examine other potential mediators...
  43. pmc Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels
    Hsiang Cheng Chen
    Duke University Medical Center, Durham, North Carolina 27710, USA
    Arthritis Rheum 58:3854-64. 2008
    ..We undertook the present study to evaluate this association and to test the hypothesis that COMP levels are associated with hypermobility in patients with OA and individuals without OA...
  44. pmc Factors influencing dietary protein sources in the PREMIER trial population
    Pao Hwa Lin
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    J Am Diet Assoc 110:291-5. 2010
    ..These influences significantly impact choice and are essential elements to consider when designing intervention programs to alter protein contributions from animal vs plant sources...
  45. pmc Evaluation metrics for biostatistical and epidemiological collaborations
    Doris McGartland Rubio
    Data Center, Center for Research on Health Care, Division of General Internal Medicine, Department of Medicine, School of Medicine, University of Pittsburgh, 200 Meyran Avenue, Suite 200, Pittsburgh, PA 15213, USA
    Stat Med 30:2767-77. 2011
    ....
  46. doi request reprint Characterization of cultured thymus tissue used for transplantation with emphasis on promiscuous expression of thyroid tissue-specific genes
    Bin Li
    Department of Pediatrics, Duke University Medical Center, Research Park Building 4, Research Drive, Durham, NC, 27710, USA
    Immunol Res 44:71-83. 2009
    ..Levels of AIRE, TG, and cytokeratin mRNAs were mostly higher after culture compared to expression on the harvest day, likely secondary to thymocyte depletion...
  47. pmc X-APL: an improved family-based test of association in the presence of linkage for the X chromosome
    Ren Hua Chung
    Bioinformatics Research Center, North Carolina State University, Raleigh, NC, USA
    Am J Hum Genet 80:59-68. 2007
    ..To show its utility and to discuss interpretation in real-data analysis, we also applied the X-APL to candidate-gene data in a sample of families with Parkinson disease...
  48. ncbi request reprint Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations
    Suzanne K Jadico
    University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J AAPOS 10:521-7. 2006
    ..This study's goal was to determine ophthalmic phenotype/genotype correlations in patients with either mutation...
  49. ncbi request reprint Standardizing global gene expression analysis between laboratories and across platforms
    Theodore Bammler
    Nat Methods 2:351-6. 2005
    ..These findings indicate that microarray results can be comparable across multiple laboratories, especially when a common platform and set of procedures are used...