Dietrich Stephan

Summary

Affiliation: Translational Genomics Research Institute
Country: USA

Publications

  1. pmc Therapeutic targets for HIV-1 infection in the host proteome
    Winnie S Liang
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Retrovirology 2:20. 2005
  2. pmc A novel role for cyclooxygenase-2 in regulating vascular channel formation by human breast cancer cells
    Gargi D Basu
    Department of Biochemistry and Molecular Biology, Mayo Clinic, 13400 E, Shea Blvd, Scottsdale, Arizona 85259, USA
    Breast Cancer Res 8:R69. 2006
  3. pmc Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex
    Elizabeth A Donarum
    Developmental Neurogenetics Laboratory, Barrow Neurological Institute, St Joseph s Hospital and Medical Center, Phoenix, AZ 85013, USA
    BMC Neurosci 7:22. 2006
  4. pmc SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data
    Matthew J Huentelman
    Neurogenomics Division, The Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
    BMC Genomics 6:149. 2005
  5. pmc Identification of disease causing loci using an array-based genotyping approach on pooled DNA
    David W Craig
    Neurogenomics Division, Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
    BMC Genomics 6:138. 2005
  6. pmc Inter-platform comparability of microarrays in acute lymphoblastic leukemia
    Stephanie A Mitchell
    Research Center for Genetic Medicine, Children s National Medical Center, Institute of Biomedical Sciences, George Washington University Medical Center, Washington, D C 20037, USA
    BMC Genomics 5:71. 2004
  7. pmc Unraveling autism
    Dietrich A Stephan
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Am J Hum Genet 82:7-9. 2008
  8. pmc Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies
    Nils Homer
    Translational Genomics Research Institute TGen, Phoenix, AZ 85004, USA
    Bioinformatics 24:1896-902. 2008
  9. pmc Gene expression profiles in anatomically and functionally distinct regions of the normal aged human brain
    Winnie S Liang
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Physiol Genomics 28:311-22. 2007
  10. ncbi request reprint SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays
    Jianping Hua
    Computational Biology Division Phoenix, 445 N 5th Street, Phoenix, AZ, USA
    Bioinformatics 23:57-63. 2007

Research Grants

  1. Microarray Center for Research on the Nervous System
    Dietrich Stephan; Fiscal Year: 2007
  2. Neurogenomics of Alzheimer's Disease and Aging
    Travis Dunckley; Fiscal Year: 2007
  3. Design and Analysis of Multi-Staged Association Studies Using Pooled Genomic DNA
    Dietrich Stephan; Fiscal Year: 2007
  4. Microarray Center for Research on the Nervous System
    Dietrich Stephan; Fiscal Year: 2004
  5. Improved Diagnosis in ALL
    Dietrich Stephan; Fiscal Year: 2002

Collaborators

Detail Information

Publications62

  1. pmc Therapeutic targets for HIV-1 infection in the host proteome
    Winnie S Liang
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Retrovirology 2:20. 2005
    ..Therefore, to identify cellular proteins that may be up-regulated in HIV infection and play a role in infection, we analyzed the effects of Tat on cellular gene expression during various phases of the cell cycle...
  2. pmc A novel role for cyclooxygenase-2 in regulating vascular channel formation by human breast cancer cells
    Gargi D Basu
    Department of Biochemistry and Molecular Biology, Mayo Clinic, 13400 E, Shea Blvd, Scottsdale, Arizona 85259, USA
    Breast Cancer Res 8:R69. 2006
    ..Vascular channels have been associated with angiogenesis without involvement of endothelial cells, and may serve as another mechanism by which tumor cells obtain nutrients to survive, especially in less vascularized regions of the tumor...
  3. pmc Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex
    Elizabeth A Donarum
    Developmental Neurogenetics Laboratory, Barrow Neurological Institute, St Joseph s Hospital and Medical Center, Phoenix, AZ 85013, USA
    BMC Neurosci 7:22. 2006
    ..It is proposed that the cognitive deficits in NF1 are the result of dysfunctional cellular trafficking and localization of molecules downstream of the primary gene defect...
  4. pmc SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data
    Matthew J Huentelman
    Neurogenomics Division, The Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
    BMC Genomics 6:149. 2005
    ..We describe here the implementation of clustering algorithms on large training datasets resulting in improved SNP call rates on the 10K GeneChip...
  5. pmc Identification of disease causing loci using an array-based genotyping approach on pooled DNA
    David W Craig
    Neurogenomics Division, Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
    BMC Genomics 6:138. 2005
    ....
  6. pmc Inter-platform comparability of microarrays in acute lymphoblastic leukemia
    Stephanie A Mitchell
    Research Center for Genetic Medicine, Children s National Medical Center, Institute of Biomedical Sciences, George Washington University Medical Center, Washington, D C 20037, USA
    BMC Genomics 5:71. 2004
    ..Lists of genes that are differentially expressed in the six major subclasses of ALL have previously been reported in the literature as possible predictors of the subclass...
  7. pmc Unraveling autism
    Dietrich A Stephan
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Am J Hum Genet 82:7-9. 2008
    ..In this issue of AJHG, Alarcón et al.,(1) Arking et al.,(2) and Bakkaloglu et al.(3) identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population...
  8. pmc Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies
    Nils Homer
    Translational Genomics Research Institute TGen, Phoenix, AZ 85004, USA
    Bioinformatics 24:1896-902. 2008
    ..This multimarker method can now be used to cost-effectively complete pooling-based GWA studies with multiple platforms across over one million SNPs and to impute neighboring SNPs weighted for the loss of information due to pooling...
  9. pmc Gene expression profiles in anatomically and functionally distinct regions of the normal aged human brain
    Winnie S Liang
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Physiol Genomics 28:311-22. 2007
    ..These neuronal profiles will provide valuable reference information for future studies of the brain, in normal aging, AD and other neurological and psychiatric disorders...
  10. ncbi request reprint SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays
    Jianping Hua
    Computational Biology Division Phoenix, 445 N 5th Street, Phoenix, AZ, USA
    Bioinformatics 23:57-63. 2007
    ..However, we find that some errors introduced by commonly employed genotyping algorithms may lead to inflation of false associations between markers and phenotype...
  11. ncbi request reprint Common Kibra alleles are associated with human memory performance
    Andreas Papassotiropoulos
    Division of Psychiatry Research, University of Zurich, Zurich 8057, Switzerland
    Science 314:475-8. 2006
    ..Functional magnetic resonance imaging detected KIBRA allele-dependent differences in hippocampal activations during memory retrieval. Evidence from these experiments suggests a role for KIBRA in human memory...
  12. pmc Preliminary demonstration of an allelic association of the IREB2 gene with Alzheimer's disease
    Keith D Coon
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    J Alzheimers Dis 9:225-33. 2006
    ..Confirmation of this association in a larger cohort of cases and controls would further support the role of iron regulation in the pathogenesis of this catastrophic and increasingly common neurodegenerative disorder...
  13. pmc Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus
    David W Craig
    The Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA
    Am J Hum Genet 82:366-74. 2008
    ..Chromosomal abnormalities including the GLI3 locus were seen in 8 of 55 (15%) of the resected HH tissue samples. These somatic mutations appear to be highly variable...
  14. pmc Genetics, transcriptomics, and proteomics of Alzheimer's disease
    Andreas Papassotiropoulos
    Division of Psychiatry Research, University of Zurich, Zurich, Switzerland
    J Clin Psychiatry 67:652-70. 2006
    ....
  15. pmc Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays
    Nils Homer
    Translational Genomics Research Institute, Phoenix, Arizona, United States of America
    PLoS Genet 4:e1000167. 2008
    ..These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed...
  16. ncbi request reprint Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency
    Elizabeth A Donarum
    Developmental Neurogenetics Research Laboratory, Barrow Neurological Institute, Phoenix, Arizona, USA
    J Inherit Metab Dis 29:143-56. 2006
    ....
  17. pmc Identification of genetic variants using bar-coded multiplexed sequencing
    David W Craig
    The Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
    Nat Methods 5:887-93. 2008
    ..These results suggest that >90% of genetic variants are discoverable using multiplexed sequencing provided sufficient coverage at the polymorphic base...
  18. ncbi request reprint Cyclooxygenase-2 inhibitors in human skeletal fracture healing
    Aaron Daluiski
    Hospital for Special Surgery, New York, NY, USA
    Orthopedics 29:259-61. 2006
    ..This article recapitulates that an initial immune response is crucial to fracture healing and suggests limited usage of COX-2 inhibitors in patients with healing fractures...
  19. pmc Common sequence variants on 20q11.22 confer melanoma susceptibility
    Kevin M Brown
    Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA
    Nat Genet 40:838-40. 2008
    ..The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases...
  20. pmc Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies
    John V Pearson
    Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
    Am J Hum Genet 80:126-39. 2007
    ....
  21. ncbi request reprint Chromosomal abnormality at 6p25.1-25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy
    John F Kerrigan
    Epilepsy Center and Division of Pediatric Neurology, Barrow Neurological Institute and Children s Health Center, St Joseph s Hospital and Medical Center, Phoenix, AZ 85013, USA
    Epilepsy Res 75:70-3. 2007
    ..8 Mb to 9.7 Mb. There are 38 RefSeq genes within the duplicated regions, and no known coding sequences within the deletion. This unique patient helps identify 6p25.1-25.3 as a possible susceptibility locus for sporadic HH...
  22. ncbi request reprint Whole-genome analysis of sporadic amyotrophic lateral sclerosis
    Travis Dunckley
    Translational Genomics Research Inst, Phoenix, AZ 85004, USA
    N Engl J Med 357:775-88. 2007
    ..Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have the sporadic form, which may be caused by the interaction of multiple environmental factors and previously unknown genes...
  23. ncbi request reprint Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio
    Jason C Ting
    Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Hum Mutat 28:1225-35. 2007
    ..SNPtrio is freely accessible at http://pevsnerlab.kennedykrieger.org/SNPtrio.htm (Last accessed: 20 June 2007)...
  24. pmc GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers
    Eric M Reiman
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
    Neuron 54:713-20. 2007
    ..Our findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology...
  25. ncbi request reprint Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5
    Erik G Puffenberger
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Brain 130:1929-41. 2007
    ....
  26. ncbi request reprint A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease
    Keith D Coon
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz 85004, USA
    J Clin Psychiatry 68:613-8. 2007
    ....
  27. ncbi request reprint Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance
    Matthew J Huentelman
    Neurogenomics Division, The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, AZ 85004, USA
    Hum Mol Genet 16:1469-77. 2007
    ..Our validated genomic and functional biological findings described herein suggest a role for CAMTA1 in human episodic memory...
  28. pmc Altered neuronal gene expression in brain regions differentially affected by Alzheimer's disease: a reference data set
    Winnie S Liang
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
    Physiol Genomics 33:240-56. 2008
    ..We provide this carefully phenotyped, laser capture microdissected intraindividual brain region expression data set to the community as a public resource...
  29. ncbi request reprint A generic research paradigm for identification and validation of early molecular diagnostics and new therapeutics in common disorders
    Keith D Coon
    Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Mol Diagn Ther 11:1-14. 2007
    ....
  30. ncbi request reprint SNP-based chromosomal copy number ascertainment following multiple displacement whole-genome amplification
    Jason J Corneveaux
    The Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Biotechniques 42:77-83. 2007
    ..We recommend that small amounts of patient cohort DNA stocks be set aside and not subjected to whole genome amplification in order to facilitate the unbiased determination of chromosomal copy numbers when desired...
  31. pmc Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms
    Stacey Melquist
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Am J Hum Genet 80:769-78. 2007
    ..Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, both genes are viable candidates for conferring risk of disease...
  32. ncbi request reprint A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes
    Ester Rozenblum
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Genet 110:111-21. 2002
    ..These data provide a basis and resources for further analyses of this chromosomal region in the development of cancer...
  33. pmc Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, PA 17579, USA
    Proc Natl Acad Sci U S A 101:11689-94. 2004
    ..These results shed light on the pathogenesis of a disorder of sexual differentiation and brainstem-mediated sudden death, as well as give insight into a mechanism of transcriptional regulation...
  34. ncbi request reprint Biomarker identification in neurologic diseases: improving diagnostics and therapeutics
    Keith D Coon
    The Translational Genomics Research Institute, 400 N Fifth Street, Suite 1600, Phoenix, AZ 85004, USA
    Expert Rev Mol Diagn 4:361-75. 2004
    ..These challenges and ways to overcome them are presented here in the context of a disease known to be a robust model for biomarker identification, Alzheimer's disease...
  35. ncbi request reprint Microarray analysis of changes in mRNA levels in the rat retina after experimental elevation of intraocular pressure
    Farid Ahmed
    Laboratory of Molecular and Developmental Biology, National Eye Institute, Bethesda, Maryland 20814 9692, USA
    Invest Ophthalmol Vis Sci 45:1247-58. 2004
    ..The goal of this study was to identify altered patterns of retinal mRNA expression after experimental elevation of intraocular pressure (IOP) in a rat glaucoma model...
  36. ncbi request reprint Gene arrays and temporal patterns of drug response: corticosteroid effects on rat liver
    Richard R Almon
    Department of Biological Sciences, SUNY at Buffalo, 107 Hochstetter Hall, Buffalo, NY 14260, USA
    Funct Integr Genomics 3:171-9. 2003
    ....
  37. ncbi request reprint Integrating microarrays into disease-gene identification strategies
    Seth E Dobrin
    Neurobehavioral Branch, Neurogenomics Program, TGen, The Translational Genomics Research Institute, 400 North Fifth Street, Suite 1600, Phoenix, AZ 85004, USA
    Expert Rev Mol Diagn 3:375-85. 2003
    ..The resultant insight forms the basis for improved molecular diagnostics and novel therapeutic targets...
  38. ncbi request reprint Overexpression of the EGFR/FKBP12/HIF-2alpha pathway identified in childhood astrocytomas by angiogenesis gene profiling
    Soumen Khatua
    Center for Cancer Research, Children s Research Institute, Washington, DC 20010, USA
    Cancer Res 63:1865-70. 2003
    ..02). We conclude that the EGFR/FKBP12/HIF-2alpha pathway is important in childhood HGA and represents a potential new therapeutic target...
  39. ncbi request reprint Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis
    Carla A Teixeira
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Hum Mutat 21:502-8. 2003
    ..25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene...
  40. ncbi request reprint Containing multitudes: focus on "novel and nondetected human signaling protein polymorphisms"
    Dietrich A Stephan
    Physiol Genomics 10:127-9. 2002
  41. ncbi request reprint Nuclear factor 90 mediates activation of the cellular antiviral expression cascade
    Irina Krasnoselskaya-Riz
    Department of Biochemistry and Molecular Biology, George Washington University School of Medicine, Washington, D C 20037, USA
    AIDS Res Hum Retroviruses 18:591-604. 2002
    ..This leads to a hypothesis as to the mechanism of action of NF90 in mediating endogenous antiviral responses...
  42. ncbi request reprint Gene and protein expression changes in human trabecular meshwork cells treated with transforming growth factor-beta
    Xiujun Zhao
    Section on Aging and Ocular Disease, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Invest Ophthalmol Vis Sci 45:4023-34. 2004
    ..To determine the genomic and proteomic expression changes in human trabecular meshwork cells when they are treated with transforming growth factor (TGF)-beta...
  43. ncbi request reprint Discovery and development of biomarkers of neurological disease
    Travis Dunckley
    Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ 85004, USA
    Drug Discov Today 10:326-34. 2005
    ....
  44. ncbi request reprint Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Am J Med Genet A 138:262-7. 2005
    ..In families with shared genetic heritage, genome-wide SNP arrays with relatively high marker density allow disease gene mapping studies to be incorporated into routine diagnostic evaluations...
  45. ncbi request reprint Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder
    Jobst Meyer
    Clinical and Molecular Psychobiology, Department of Psychiatry and Psychotherapy, University of Wuerzburg, Germany
    Int J Neuropsychopharmacol 8:495-504. 2005
    ..Our data strongly suggest that rare variants of SLC12A6 may represent risk factors for bipolar disorder...
  46. ncbi request reprint Applications of whole-genome high-density SNP genotyping
    David W Craig
    The Translational Genomics Research Institute, Neurogenomics Division, 445 North Fifth Street, Phoenix, AZ 85004, USA
    Expert Rev Mol Diagn 5:159-70. 2005
    ..In this review, the immediate applications and implications of the rapidly changing high-density, whole-genome single nucleotide polymorphism genotyping field on translational research will be described...
  47. ncbi request reprint A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region
    Agnes B Baffoe-Bonnie
    Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA
    Hum Genet 117:307-16. 2005
    ..Fine mapping efforts included the genotyping of four additional markers D3S2390, bG82i1.9, bG82i1.1, bG82i1.0 and four single nucleotide polymorphisms (SNPs) to augment the original markers around DXS1205...
  48. ncbi request reprint The Autism Genome Project: goals and strategies
    Diane Hu-Lince
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
    Am J Pharmacogenomics 5:233-46. 2005
    ..From this knowledge, therapeutic targets for drug treatments, and ultimately, a newborn screening diagnostic that would allow for early intervention, can begin to be developed...
  49. ncbi request reprint Effects of prostaglandin analogues on human ciliary muscle and trabecular meshwork cells
    Xiujun Zhao
    Laboratory of Mechanisms of Ocular Diseases, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
    Invest Ophthalmol Vis Sci 44:1945-52. 2003
    ..To determine the effects of prostaglandin F(2alpha) analogues on gene expression of human ciliary muscle (HCM) and trabecular meshwork (HTM) cells...
  50. doi request reprint Refinement of 2q and 7p loci in a large multiplex NTD family
    Demetra S Stamm
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Birth Defects Res A Clin Mol Teratol 82:441-52. 2008
    ..Previous linkage analysis using a genome-wide SNP screen in family 8776 with multipoint nonparametric mapping methods identified maximum LOD* scores of approximately 3.0 mapping to 2q33.1-q35 and 7p21.1-pter...
  51. ncbi request reprint The genetics of tethered cord syndrome
    Alexander G Bassuk
    Am J Med Genet A 132:450-3. 2005
  52. pmc Gene expression correlates of neurofibrillary tangles in Alzheimer's disease
    Travis Dunckley
    Neurogenomics Division, Translational Genomics Research Institute, 445 North 5th Street, Phoenix, AZ 85004, USA
    Neurobiol Aging 27:1359-71. 2006
    ..Functional validation studies are underway to determine which candidate genes may be causally related to NFT neuropathology, thus providing therapeutic targets for the treatment of AD...
  53. ncbi request reprint Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    N Engl J Med 354:1370-7. 2006
    ..Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2...
  54. ncbi request reprint High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35
    Demetra S Stamm
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Birth Defects Res A Clin Mol Teratol 76:499-505. 2006
    ..Further investigation of the genomic screen data identified a single large multiplex family, pedigree 8776, as primarily driving the linkage results on chromosome 7...
  55. ncbi request reprint The nuts and bolts of gene array technology and its application to drug abuse research
    David Shurtleff
    Drug Alcohol Depend 91:102-6. 2007
  56. ncbi request reprint Sorl1 as an Alzheimer's disease predisposition gene?
    Jennifer A Webster
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz, USA
    Neurodegener Dis 5:60-4. 2008
    ..Here we present the results of our large case-control whole-genome scan at over 500,000 polymorphisms which presents weak evidence for association and potentially narrows the association interval...
  57. ncbi request reprint Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13
    Lisbeth Tranebjaerg
    Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK 2400, Copenhagen NV, Denmark
    Hum Genet 113:293-5. 2003
    ..Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11-q13 in a large inbred Norwegian family with infantile non-progressive ataxia...
  58. pmc Correlation of expression of BP1, a homeobox gene, with estrogen receptor status in breast cancer
    Sidney W Fu
    Department of Biochemistry and Molecular Biology, The George Washington University Medical Center, Washington, DC, USA
    Breast Cancer Res 5:R82-7. 2003
    ..Here BP1 expression was examined in breast cancer, and the relationship between BP1 expression and clinicopathological data was determined...
  59. ncbi request reprint Dissection of the sets of genes that control the behavior of biglycan-deficient pre-osteoblasts using oligonucleotide microarrays
    Xiao Dong Chen
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
    Bone 37:192-203. 2005
    ..This study provides a broad and deep foundation for understanding SLRP function at a more complex level...
  60. 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...
  61. ncbi request reprint An expression signature classifies chemotherapy-resistant pediatric osteosarcoma
    Michelle B Mintz
    Neurogenomics Division and Genetic Basis of Human Disease Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
    Cancer Res 65:1748-54. 2005
    ..We propose that osteosarcoma tumor-driven changes in the bone microenvironment contribute to the chemotherapy-resistant phenotype and offer testable hypotheses to potentially enhance therapeutic response...
  62. ncbi request reprint Microarray and protein analysis of human pterygium
    Molykutty John-Aryankalayil
    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 12:55-64. 2006
    ..In order to identify specific genes that may play a role in pterygium pathogenesis, we analyzed the global gene expression profile of pterygium in relation to autologous conjunctiva...

Research Grants15

  1. Microarray Center for Research on the Nervous System
    Dietrich Stephan; Fiscal Year: 2007
    ....
  2. Neurogenomics of Alzheimer's Disease and Aging
    Travis Dunckley; Fiscal Year: 2007
    ..In all, the partnership of leaders in the AD field, the national resources within the ADCs, and the genomics expertise at TGen should allow rapid progress in understanding the etiology of AD dementia. ..
  3. Design and Analysis of Multi-Staged Association Studies Using Pooled Genomic DNA
    Dietrich Stephan; Fiscal Year: 2007
    ....
  4. Microarray Center for Research on the Nervous System
    Dietrich Stephan; Fiscal Year: 2004
    ..abstract_text> ..
  5. Improved Diagnosis in ALL
    Dietrich Stephan; Fiscal Year: 2002
    ..The future goal of this proposal is to prospectively diagnose relapse so that therapy can be intensified at the time of presentation...