A E Guttmacher

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Human genetics on the web
    A E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    Annu Rev Genomics Hum Genet 2:213-33. 2001
  2. ncbi request reprint Educating health-care professionals about genetics and genomics
    Alan E Guttmacher
    National Human Genome Research Institute, Building 31, Room 4B09, Bethesda, MD 20892 2152, USA
    Nat Rev Genet 8:151-7. 2007
  3. ncbi request reprint Realizing the promise of genomics in biomedical research
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    JAMA 294:1399-402. 2005
  4. ncbi request reprint Genomic medicine--a primer
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    N Engl J Med 347:1512-20. 2002
  5. doi request reprint Personalized genomic information: preparing for the future of genetic medicine
    Alan E Guttmacher
    National Institute of Child Health and Human Development, 31 Center Drive, Room 2A03, Bethesda, Maryland 20892 2152, USA
    Nat Rev Genet 11:161-5. 2010
  6. ncbi request reprint Genomic medicine: who will practice it? A call to open arms
    A E Guttmacher
    National Human Genome Research Institute of the National Institutes of Health Bethesda, MD 20892 2152, USA
    Am J Med Genet 106:216-22. 2001
  7. ncbi request reprint A vision for the future of genomics research
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nature 422:835-47. 2003
  8. ncbi request reprint Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
    M J Rosenberg
    National Human Genome Research Institute, Genetic Disease Research Branch, 49 Convent Drive, Bethesda, MD 20892, USA
    Hum Genet 109:311-8. 2001
  9. pmc Finding the missing heritability of complex diseases
    Teri A Manolio
    National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892 2152, USA
    Nature 461:747-53. 2009
  10. pmc Commentary: trailblazing a research agenda at the interface of pediatrics and genomic discovery--a commentary on the psychological aspects of genomics and child health
    Colleen M McBride
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2073, USA
    J Pediatr Psychol 34:662-4. 2009

Detail Information

Publications21

  1. ncbi request reprint Human genetics on the web
    A E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    Annu Rev Genomics Hum Genet 2:213-33. 2001
    ..There are scores of web sites helpful to those interested in either research or clinical aspects of human genetics. The web and related communication technologies should continue to play increasingly important roles in human genetics...
  2. ncbi request reprint Educating health-care professionals about genetics and genomics
    Alan E Guttmacher
    National Human Genome Research Institute, Building 31, Room 4B09, Bethesda, MD 20892 2152, USA
    Nat Rev Genet 8:151-7. 2007
    ..Here we describe the knowledge, skills and attitudes that genomic medicine will require, and approaches to integrate them into the health-care community...
  3. ncbi request reprint Realizing the promise of genomics in biomedical research
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    JAMA 294:1399-402. 2005
  4. ncbi request reprint Genomic medicine--a primer
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    N Engl J Med 347:1512-20. 2002
  5. doi request reprint Personalized genomic information: preparing for the future of genetic medicine
    Alan E Guttmacher
    National Institute of Child Health and Human Development, 31 Center Drive, Room 2A03, Bethesda, Maryland 20892 2152, USA
    Nat Rev Genet 11:161-5. 2010
    ....
  6. ncbi request reprint Genomic medicine: who will practice it? A call to open arms
    A E Guttmacher
    National Human Genome Research Institute of the National Institutes of Health Bethesda, MD 20892 2152, USA
    Am J Med Genet 106:216-22. 2001
    ..This new use of genetics in health care will also allow, even require, new ways of working for genetic specialists, who will continue to occupy unique and vital roles...
  7. ncbi request reprint A vision for the future of genomics research
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nature 422:835-47. 2003
  8. ncbi request reprint Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
    M J Rosenberg
    National Human Genome Research Institute, Genetic Disease Research Branch, 49 Convent Drive, Bethesda, MD 20892, USA
    Hum Genet 109:311-8. 2001
    ..Given a detection rate that is similar to prior studies and the large workload imposed by STRPs, we conclude that STRPs are an effective, but impractical, approach to the determination of segmental aneusomy given current technology...
  9. pmc Finding the missing heritability of complex diseases
    Teri A Manolio
    National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892 2152, USA
    Nature 461:747-53. 2009
    ....
  10. pmc Commentary: trailblazing a research agenda at the interface of pediatrics and genomic discovery--a commentary on the psychological aspects of genomics and child health
    Colleen M McBride
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2073, USA
    J Pediatr Psychol 34:662-4. 2009
    ....
  11. doi request reprint The genome gets personal--almost
    W Gregory Feero
    The National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    JAMA 299:1351-2. 2008
  12. ncbi request reprint Replicating genotype-phenotype associations
    Stephen J Chanock
    Division of Cancer Epidemiology and Genetics, Bethesda, Maryland 20892 4605, USA
    Nature 447:655-60. 2007
  13. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  14. pmc National Children's Study: update in 2010
    Steven Hirschfeld
    Eunice Kennedy Shriver National Institute of Child Health and Human Development, Rockville, MD, USA
    Mt Sinai J Med 78:119-25. 2011
    ..Three different recruitment strategies are under evaluation to determine what approach to use for the Main Study. The organization of National Children's Study operations is currently based on a new decentralized business model...
  15. ncbi request reprint The family history--more important than ever
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    N Engl J Med 351:2333-6. 2004
  16. ncbi request reprint Welcome to the genomic era
    Alan E Guttmacher
    N Engl J Med 349:996-8. 2003
  17. ncbi request reprint Validity of reported genetic risk factors for acute coronary syndrome
    W Gregory Feero
    JAMA 298:1757; author reply 1759. 2007
  18. doi request reprint Key Internet genetics resources for the clinician
    Wendy R Uhlmann
    Medical Genetics Clinic, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109 5419, USA
    JAMA 299:1356-8. 2008
  19. ncbi request reprint Psychologists' contributions to the genetic revolution
    Andrea Farkas Patenaude
    Dana Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA
    Am Psychol 58:319-20. 2003
  20. ncbi request reprint Genetic testing and psychology. New roles, new responsibilities
    Andrea Farkas Patenaude
    Dana Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA
    Am Psychol 57:271-82. 2002
    ....
  21. ncbi request reprint A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
    Jeffrey W Innis
    Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI, USA
    Hum Mutat 19:573-4. 2002
    ..The missense mutation, which alters a key residue in the recognition helix of the homeodomain, is likely to perturb HOXA13's DNA-binding properties, resulting in both a loss and a specific gain of function...