Research Topics
Genomes and GenesSpecies | Joan E Bailey-WilsonSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) familiesJoan 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...- 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 dataClaire 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... - Performance of random forests and logic regression methods using mini-exome sequence dataYoonhee 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... - Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome dataJoan 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.... - Linkage analysis in the next-generation sequencing eraJoan 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... - Normalization of microarray expression data using within-pedigree pool and its effect on linkage analysisYoonhee 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... - Application of sex-specific single-nucleotide polymorphism filters in genome-wide association dataHua 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.... - Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopiaGrace 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... - Allele frequency misspecification: effect on power and Type I error of model-dependent linkage analysis of quantitative traits under random ascertainmentDiptasri M Mandal
Department of Genetics, Louisiana State University Health Sciences Center, CSRB 6 16, New Orleans, LA 70112, USA
BMC Genet 7:21. 2006.... - Genome-wide linkage analysis of multiple metabolic factors: evidence of genetic heterogeneityChing 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... - Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36Robert 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... - Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysisClaire 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... - GeneLink: a database to facilitate genetic studies of complex traitsElizabeth 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... 
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolateDeeann 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...- Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye StudyAlison 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... 
Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1qAlison P Klein
Departments of Oncology and Pathology, Johns Hopkins School of Medicine, Baltimore, MD 21231, USA
Arch Ophthalmol 125:80-5. 2007....- Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye StudyPriya 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)... - Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi familiesRobert 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... - Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility lociMahim 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... - Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family StudyRobert 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... - Polygenic effects and cigarette smoking account for a portion of the familial aggregation of nuclear sclerosisAlison 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... - Importance sampling method of correction for multiple testing in affected sib-pair linkage analysisAlison 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... - Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibriumPriya 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... - 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 traitsAlison 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... - Linkage analysis of quantitative refraction and refractive errors in the Beaver Dam Eye StudyAlison P Klein
Department of Oncology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
Invest Ophthalmol Vis Sci 52:5220-5. 2011.... - Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2Joanna 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... - Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regressionHeejong 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... - Brief review of regression-based and machine learning methods in genetic epidemiology: the Genetic Analysis Workshop 17 experienceAbhijit 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... - Application of the propensity score in a covariate-based linkage analysis of the Collaborative Study on the Genetics of AlcoholismBetty 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... - A genetic contribution to intraocular pressure: the beaver dam eye studyPriya 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..The pilot linkage study further confirms the heterogeneity of IOP with the identification of two novel genetic loci... - Evaluation of random forests performance for genome-wide association studies in the presence of interaction effectsYoonhee Kim
National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Baltimore, MD 21224, USA
BMC Proc 3:S64. 2009.... - Admixture mapping of obesity-related traits in African Americans: the Atherosclerosis Risk in Communities (ARIC) StudyChing 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... - Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studiesPriya 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"... - Physical and transcript map of the hereditary prostate cancer region at xq27Dietrich 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... - A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne 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... - Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysisClaire 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... - Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease StudyRobert 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... - Localization of a novel melanoma susceptibility locus to 1p22Elizabeth 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... - Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36Robert 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... - Inheritance of total serum IgE in the isolated Tangier Island population from Virginia: complexities associated with genealogical depth of pedigrees in segregation analysesRasika 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.... - Combined genome-wide scan for prostate cancer susceptibility genesElizabeth M Gillanders
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
J Natl Cancer Inst 96:1240-7. 2004..10 at marker D4S1615; P =.00008). CONCLUSION: Fine mapping studies to facilitate identification of prostate cancer susceptibility genes in these linked regions are warranted... - Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitisAmir 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... - Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11Mauricio 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... - Support for polygenic influences on ocular refractive errorAlison 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..CONCLUSIONS: These results support the involvement of genetic factors in the etiology of refractive error and are consistent with reports of linkage to multiple regions of the genome... - Genes, environment and the value of prospective cohort studiesTeri 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... - Covariate-based linkage analysis: application of a propensity score as the single covariate consistently improves power to detect linkageBetty Q Doan
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
Eur J Hum Genet 14:1018-26. 2006....