Joan E Bailey-Wilson

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis
    Claire L Simpson
    1nherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    Mol Vis 17:1641-51. 2011
  2. pmc Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Med Genet 13:46. 2012
  3. pmc Performance of random forests and logic regression methods using mini-exome sequence data
    Yoonhee Kim
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Proc 5:S104. 2011
  4. pmc Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data
    Claire L Simpson
    Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, 333 Cassell Drive Suite 1200, Baltimore, MD 21224, USA
    BMC Proc 5:S83. 2011
  5. pmc Linkage analysis in the next-generation sequencing era
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    Hum Hered 72:228-36. 2011
  6. pmc Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    Genet Epidemiol 35:S92-100. 2011
  7. pmc Normalization of microarray expression data using within-pedigree pool and its effect on linkage analysis
    Yoonhee Kim
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Suite 1200, Baltimore, Maryland 21224, USA
    BMC Proc 1:S152. 2007
  8. pmc Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data
    Hua Ling
    Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21224, USA
    BMC Proc 3:S57. 2009
  9. pmc Allele frequency misspecification: effect on power and Type I error of model-dependent linkage analysis of quantitative traits under random ascertainment
    Diptasri M Mandal
    Department of Genetics, Louisiana State University Health Sciences Center, CSRB 6 16, New Orleans, LA 70112, USA
    BMC Genet 7:21. 2006
  10. pmc Genome-wide linkage analysis of multiple metabolic factors: evidence of genetic heterogeneity
    Ching Yu Cheng
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA
    Obesity (Silver Spring) 18:146-52. 2010

Collaborators

Detail Information

Publications49

  1. pmc Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis
    Claire L Simpson
    1nherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    Mol Vis 17:1641-51. 2011
    ..Genetic studies have pointed to a strong inherited component, but although many candidate regions have been implicated, few genes have been positively identified...
  2. pmc Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Med Genet 13:46. 2012
    ..Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive...
  3. pmc Performance of random forests and logic regression methods using mini-exome sequence data
    Yoonhee Kim
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Proc 5:S104. 2011
    ..Logic regression performed better when rare variants were collapsed based on genes rather than on pathways...
  4. pmc Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data
    Claire L Simpson
    Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, 333 Cassell Drive Suite 1200, Baltimore, MD 21224, USA
    BMC Proc 5:S83. 2011
    ..The family-based tests of association found the same major loci as the linkage analyses and detected low-frequency loci with moderate effect sizes, but control of type I error was not as stringent...
  5. pmc Linkage analysis in the next-generation sequencing era
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    Hum Hered 72:228-36. 2011
    ..A brief review of linkage methods is presented here with examples of their relevance and usefulness for the interpretation of whole-exome and whole-genome sequence data...
  6. pmc Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    Genet Epidemiol 35:S92-100. 2011
    ....
  7. pmc Normalization of microarray expression data using within-pedigree pool and its effect on linkage analysis
    Yoonhee Kim
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Suite 1200, Baltimore, Maryland 21224, USA
    BMC Proc 1:S152. 2007
    ..Surprisingly, the linkage plots for these traits were similar, suggesting that although heritability increases when traits are normalized within pedigrees, the strength of linkage evidence does not necessarily change substantially...
  8. pmc Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data
    Hua Ling
    Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21224, USA
    BMC Proc 3:S57. 2009
    ....
  9. pmc Allele frequency misspecification: effect on power and Type I error of model-dependent linkage analysis of quantitative traits under random ascertainment
    Diptasri M Mandal
    Department of Genetics, Louisiana State University Health Sciences Center, CSRB 6 16, New Orleans, LA 70112, USA
    BMC Genet 7:21. 2006
    ....
  10. pmc Genome-wide linkage analysis of multiple metabolic factors: evidence of genetic heterogeneity
    Ching Yu Cheng
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA
    Obesity (Silver Spring) 18:146-52. 2010
    ..We found evidence of genetic heterogeneity by FHD for the three metabolic factors. The results also confirmed findings of previous studies that mapped components of the metabolic syndrome to a chromosome 1q region...
  11. pmc Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36
    Robert Wojciechowski
    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
    Hum Genet 119:389-99. 2006
    ..Conclusion: We found genomewide significant evidence for linkage of refractive error to a novel QTL on chromosome 1p36 in an Ashkenazi Jewish population...
  12. pmc GeneLink: a database to facilitate genetic studies of complex traits
    Elizabeth M Gillanders
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 8000, USA
    BMC Genomics 5:81. 2004
    ..To minimize the difficulties inherent in complex trait studies, we have developed GeneLink, a Web-accessible, password-protected Sybase database...
  13. ncbi request reprint Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1q
    Alison P Klein
    Departments of Oncology and Pathology, Johns Hopkins School of Medicine, Baltimore, MD 21231, USA
    Arch Ophthalmol 125:80-5. 2007
    ....
  14. pmc Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study
    Robert Wojciechowski
    Inherited Disease Research Branch, National Human Genome Research Institute, Baltimore, Maryland 21231, USA
    Invest Ophthalmol Vis Sci 50:2024-32. 2009
    ..We also performed a meta-analysis by combining these results with our previous linkage results from Ashkenazi Jewish (ASHK) and African American (AFRAM) families...
  15. doi request reprint Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate
    Deeann Wallis
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Atten Defic Hyperact Disord 1:19-24. 2009
    ..This makes ours the ninth study to examine the association of CHRNA4 with ADHD and the seventh one to find evidence for association in a population with a different ethnicity...
  16. pmc Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study
    Priya Duggal
    Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA
    Arch Ophthalmol 125:74-9. 2007
    ..To identify genetic loci that control intraocular pressure (IOP)...
  17. pmc Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits
    Alison P Klein
    Inherited Disease Research Branch, NHGRI NIH, Baltimore, MD, USA
    BMC Genet 6:S20. 2005
    ..The presence of LD between markers may have led to an increased number of false positive regions but no clear relationship between regions of high LD and locations of false positive linkage signals was observed...
  18. pmc Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibrium
    Priya Duggal
    Inherited Disease Research Branch, NHGRI NIH, Baltimore, MD, USA
    BMC Genet 6:S73. 2005
    ..In addition, we compared the selected SNPs in a multipoint linkage analysis for one region with strong LD. As the number of selected SNPs increased, the LOD score, mean information content, and type I error also increased...
  19. pmc Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study
    Alison P Klein
    Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21231, USA
    Arch Ophthalmol 127:649-55. 2009
    ..However, the measured phenotype of spherical equivalent is in large part dictated by the relationship between the underlying optical components of axial length, corneal curvature, and anterior chamber depth...
  20. pmc Importance sampling method of correction for multiple testing in affected sib-pair linkage analysis
    Alison P Klein
    Inherited Disease Research Branch, NHGRI, NIH, Baltimore, Maryland, USA
    BMC Genet 4:S73. 2003
    ..The ability of these methods to detect trait loci was also low. However, this may be partially due to a limitation inherent in our binary trait definitions...
  21. pmc Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families
    Robert Wojciechowski
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland 21224, USA
    Invest Ophthalmol Vis Sci 51:4989-95. 2010
    ..The genetic association of refractive error and polymorphisms in MMP and TIMP genes in Old Order Amish (AMISH) and Ashkenazi Jewish (ASHK) families was investigated...
  22. pmc Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort
    Claire L Simpson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD
    Mol Vis 19:2173-86. 2013
    ..This paper seeks to determine whether the non-replication in this AREDS sample may be due to the limited number of SNPs chosen for replication...
  23. ncbi request reprint Polygenic effects and cigarette smoking account for a portion of the familial aggregation of nuclear sclerosis
    Alison P Klein
    Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, Baltimore, MD, USA
    Am J Epidemiol 161:707-13. 2005
    ..Cigarette smoking was an important covariate in these analyses. Overall, results highlight the complex etiology of nuclear sclerosis...
  24. ncbi request reprint Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci
    Mahim Jain
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Biol Psychiatry 61:1329-39. 2007
    ..Attention-deficit/hyperactivity disorder (ADHD) comorbid with oppositional defiant disorder (ODD) or conduct disorder (CD) and substance abuse/dependence seems to represent a specific subset within the phenotypic ADHD spectrum...
  25. pmc Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study
    Robert Wojciechowski
    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205, USA
    Ophthalmology 120:298-305. 2013
    ..A candidate gene replication study of association between refraction and single nucleotide polymorphisms (SNPs) within these genomic regions was conducted...
  26. ncbi request reprint Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2
    Joanna S Zeiger
    Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA
    Eur J Hum Genet 11:835-9. 2003
    ..022 and 0.006, respectively). A subset of these 26 families provided additional evidence for a susceptibility gene for CL/P on 2q, suggesting that further studies of genes in this region are warranted...
  27. pmc Linkage analysis of quantitative refraction and refractive errors in the Beaver Dam Eye Study
    Alison P Klein
    Department of Oncology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
    Invest Ophthalmol Vis Sci 52:5220-5. 2011
    ....
  28. pmc Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression
    Heejong Sung
    Genometrics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Baltimore, MD 21224, USA
    BMC Proc 5:S15. 2011
    ..However, for traditional simple linear regression, the average estimated type I error is dependent on the trait and varies by about three orders of magnitude. The estimated type I error rate is stable for tiled regression across traits...
  29. pmc Brief review of regression-based and machine learning methods in genetic epidemiology: the Genetic Analysis Workshop 17 experience
    Abhijit Dasgupta
    Clinical Sciences Section, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 21224, USA
    Genet Epidemiol 35:S5-11. 2011
    ..We include a discussion of cross-validation for model selection and assessment, and a description of available software resources for these methods...
  30. pmc Application of the propensity score in a covariate-based linkage analysis of the Collaborative Study on the Genetics of Alcoholism
    Betty Q Doan
    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205, USA
    BMC Genet 6:S33. 2005
    ..Several definitions of the PS were calculated, each with increasing number of covariates up to a maximum of five. To account for the potential inflation in the type I error rates, permutation based p-values were calculated...
  31. pmc Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis
    Claire L Simpson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA
    Eur J Hum Genet 21:437-43. 2013
    ..21 (OSA LOD=2.395, ΔLOD=2.36, P=0.006), which is close to HPC6. Using OSA allows us to find additional loci linked to HPC in subsets of families, and underlines the complex genetic heterogeneity of HPC even in highly aggregated families...
  32. ncbi request reprint Inheritance of total serum IgE in the isolated Tangier Island population from Virginia: complexities associated with genealogical depth of pedigrees in segregation analyses
    Rasika A Mathias
    Department of Epidemiology, Bloomberg School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD 21224, USA
    Hum Hered 59:228-38. 2005
    ....
  33. ncbi request reprint A genetic contribution to intraocular pressure: the beaver dam eye study
    Priya Duggal
    Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA
    Invest Ophthalmol Vis Sci 46:555-60. 2005
    ..IOP is a principal risk factor for primary open-angle glaucoma (POAG) a leading cause of blindness worldwide...
  34. pmc Evaluation of random forests performance for genome-wide association studies in the presence of interaction effects
    Yoonhee Kim
    National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Baltimore, MD 21224, USA
    BMC Proc 3:S64. 2009
    ....
  35. pmc Admixture mapping of obesity-related traits in African Americans: the Atherosclerosis Risk in Communities (ARIC) Study
    Ching Yu Cheng
    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
    Obesity (Silver Spring) 18:563-72. 2010
    ..92 kg/m(2) (P = 2.9 x 10(-5)). Further mapping in this region on chromosome 2 may be able to uncover causative variants underlying obesity, which may offer insights into the control of energy homeostasis...
  36. ncbi request reprint Physical and transcript map of the hereditary prostate cancer region at xq27
    Dietrich A Stephan
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Genomics 79:41-50. 2002
    ..These transcriptional units represent candidate genes for HPCX and multiple other hereditary diseases at Xq26.3-q27.3...
  37. pmc Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies
    Priya Duggal
    Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD USA
    BMC Genomics 9:516. 2008
    ..Many SNPs fall within regions of strong linkage disequilibrium (LD) ("blocks") and should not be considered "independent"...
  38. ncbi request reprint Combined genome-wide scan for prostate cancer susceptibility genes
    Elizabeth M Gillanders
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    J Natl Cancer Inst 96:1240-7. 2004
    ....
  39. pmc Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia
    Grace Ibay
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr, Suite 2000, Baltimore, MD 21224, USA
    BMC Med Genet 5:20. 2004
    ..We hypothesized that these high myopia loci might exhibit allelic heterogeneity and be responsible for moderate /mild or common myopia...
  40. pmc Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36
    Robert Wojciechowski
    Inherited Disease Research Branch, National Human Genome Research Institute, 333 Cassell Drive, Baltimore, MD 21224, USA
    Mol Vis 15:1398-406. 2009
    ..1. We carried out a fine-mapping study of this region in Orthodox Ashkenazi Jewish (ASHK) and Old Order Amish (OOA) families to confirm linkage and narrow the candidate region...
  41. pmc A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta
    Wayne A Cabral
    Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 14:543-51. 2012
    ..We aimed to determine the frequency of carriers for this mutation among African Americans and West Africans, and the mutation origin and age...
  42. pmc Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11
    Mauricio Arcos-Burgos
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Am J Hum Genet 75:998-1014. 2004
    ..The concordance between results from different analytical methods of linkage and the replication of data between two independent studies suggest that these loci truly harbor ADHD susceptibility genes...
  43. pmc Localization of a novel melanoma susceptibility locus to 1p22
    Elizabeth Gillanders
    Cancer Genetics Branch, National Human Genome Research Institute, Bethesda, MD
    Am J Hum Genet 73:301-13. 2003
    ..43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22...
  44. ncbi request reprint Covariate-based linkage analysis: application of a propensity score as the single covariate consistently improves power to detect linkage
    Betty Q Doan
    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
    Eur J Hum Genet 14:1018-26. 2006
    ....
  45. ncbi request reprint Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis
    Amir S Karban
    Johns Hopkins University School of Medicine, 1503 E Jefferson Street, Room B136, Baltimore, MD 21231, USA
    Hum Mol Genet 13:35-45. 2004
    ..Therefore, we have identified the first potentially functional polymorphism of NFKB1 and demonstrated its genetic association with a common human disease, ulcerative colitis...
  46. ncbi request reprint Segregation analysis of 389 Icelandic pedigrees with Breast and prostate cancer
    Agnes B Baffoe-Bonnie
    Department of Epidemiology, Johns Hopkins School of Hygiene and Public Health, Baltimore, Maryland 21205, USA
    Genet Epidemiol 23:349-63. 2002
    ....
  47. ncbi request reprint Support for polygenic influences on ocular refractive error
    Alison P Klein
    Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, Baltimore, Maryland, USA
    Invest Ophthalmol Vis Sci 46:442-6. 2005
    ..This study examined the familial aggregation and pattern of inheritance of ocular refraction in an adult population, by using data from the Beaver Dam Eye Study...
  48. ncbi request reprint Genes, environment and the value of prospective cohort studies
    Teri A Manolio
    National Human Genome Research Institute, 31 Center Drive, Room 4B09, Bethesda, Maryland 20892 2154, USA
    Nat Rev Genet 7:812-20. 2006
    ..This and other strengths of prospective cohort studies make them invaluable for understanding gene-environment interactions in complex human disease...