medical genetics

Summary

Summary: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.

Top Publications

  1. ncbi Genetic structure of human populations
    Noah A Rosenberg
    Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA
    Science 298:2381-5. 2002
  2. ncbi A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
    R Sachidanandam
    Cold Spring Harbor, New York 11724, USA
    Nature 409:928-33. 2001
  3. ncbi Population history and its impact on medical genetics in Quebec
    A M Laberge
    Service de Genetique Medicale, Hopital Ste Justine, Montreal, Quebec, Canada
    Clin Genet 68:287-301. 2005
  4. ncbi 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
  5. ncbi Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa)
    Ambroise Wonkam
    Department of Genetic Medicine and Development, Geneva University Hospitals, Geneva, Switzerland
    Genet Med 8:331-8. 2006
  6. pmc A comprehensive literature review of haplotyping software and methods for use with unrelated individuals
    Rany M Salem
    Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, CA, USA
    Hum Genomics 2:39-66. 2005
  7. ncbi Medical genetics in developing countries
    Arnold Christianson
    Division of Human Genetics, National Health Laboratory Service and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2000, South Africa
    Annu Rev Genomics Hum Genet 5:219-65. 2004
  8. ncbi Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    Andrew D Skol
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan 48109 2029, USA
    Nat Genet 38:209-13. 2006
  9. ncbi Genetics, statistics and human disease: analytical retooling for complexity
    Tricia A Thornton-Wells
    Neuroscience Graduate Program, Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN 37240, USA
    Trends Genet 20:640-7. 2004
  10. ncbi Public experiences, knowledge and expectations about medical genetics and the use of genetic information
    Lidewij Henneman
    Department of Social Medicine, Institute for Research in Extramural Medicine, VU University Medical Center, Amsterdam, The Netherlands
    Community Genet 7:33-43. 2004

Detail Information

Publications205 found, 100 shown here

  1. ncbi Genetic structure of human populations
    Noah A Rosenberg
    Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA
    Science 298:2381-5. 2002
    ..General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies...
  2. ncbi A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
    R Sachidanandam
    Cold Spring Harbor, New York 11724, USA
    Nature 409:928-33. 2001
    ..This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy...
  3. ncbi Population history and its impact on medical genetics in Quebec
    A M Laberge
    Service de Genetique Medicale, Hopital Ste Justine, Montreal, Quebec, Canada
    Clin Genet 68:287-301. 2005
    ..Three genetic diseases of Quebec First Nations children are also discussed: Cree encephalitis (MIM 608505), Cree leukoencephalopathy (MIM 603896) and North American Indian childhood cirrhosis (MIM 604901)...
  4. ncbi 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
  5. ncbi Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa)
    Ambroise Wonkam
    Department of Genetic Medicine and Development, Geneva University Hospitals, Geneva, Switzerland
    Genet Med 8:331-8. 2006
    ..Little is known about physician's knowledge of, and attitudes toward genetics in sub-Saharan Africa...
  6. pmc A comprehensive literature review of haplotyping software and methods for use with unrelated individuals
    Rany M Salem
    Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, CA, USA
    Hum Genomics 2:39-66. 2005
    ..It is concluded that the selection of an appropriate haplotyping program for analysis purposes should be guided by what is known about the accuracy of estimation, as well as by the limitations and assumptions built into a program...
  7. ncbi Medical genetics in developing countries
    Arnold Christianson
    Division of Human Genetics, National Health Laboratory Service and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2000, South Africa
    Annu Rev Genomics Hum Genet 5:219-65. 2004
    ..We present a new pragmatic approach for the care and prevention of congenital disorders in these countries, pioneered initially by the World Health Organization...
  8. ncbi Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    Andrew D Skol
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan 48109 2029, USA
    Nat Genet 38:209-13. 2006
    ..30), and a relatively large proportion of markers are selected for follow-up in stage 2 (pi(markers) >or= 0.01)...
  9. ncbi Genetics, statistics and human disease: analytical retooling for complexity
    Tricia A Thornton-Wells
    Neuroscience Graduate Program, Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN 37240, USA
    Trends Genet 20:640-7. 2004
    ..Finally, we propose a comprehensive two-step approach to analysis that systemically addresses the different genetic factors that are likely to underlie complex diseases...
  10. ncbi Public experiences, knowledge and expectations about medical genetics and the use of genetic information
    Lidewij Henneman
    Department of Social Medicine, Institute for Research in Extramural Medicine, VU University Medical Center, Amsterdam, The Netherlands
    Community Genet 7:33-43. 2004
    ....
  11. pmc Medical genetics in the genomic medicine of the 21st century
    Charles J Epstein
    Department of Pediatrics and Center for Human Genetics, University of California, San Francisco, USA
    Am J Hum Genet 79:434-8. 2006
  12. ncbi The current status of medical genetics instruction in US and Canadian medical schools
    Virginia Carol Thurston
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Acad Med 82:441-5. 2007
    Relatively little is known about how medical genetics is being taught in the undergraduate medical curriculum and whether educators concur regarding topical priority...
  13. ncbi A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and chi
    Alex R Kemper
    Department of Pediatrics and Duke Clinical Research Institute, Duke University, Durham, North Carolina 27705, USA
    Genet Med 12:77-80. 2010
    ..The Subcommittee reviewed the report and put forth recommendations to the Committee, which were adopted by the Committee in September 2009...
  14. ncbi Flow cytometry: an 'old' tool for novel applications in medical genetics
    N Wedemeyer
    Institut für Strahlenbiologie der Westfälischen Wilhelms Universität, Munster, Germany
    Clin Genet 60:1-8. 2001
    ..Overall, this review demonstrates flow cytometry as a rapid, sensitive, and reproducible tool applicable to a wide range of medical genetic approaches...
  15. pmc Medical genetics: 1. Clinical teratology in the age of genomics
    Janine E Polifka
    Department of Pediatrics, University of Washington, Seattle, USA
    CMAJ 167:265-73. 2002
    ..We discuss general principles of risk counselling and risk reduction, and we describe several long-known teratogens, as well as several exposures recognized only recently to have teratogenic potential...
  16. ncbi The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists
    Judith A Cooksey
    Genetics Health Services Research Center, Department of Epidemiology and Preventive Medicine, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, MD 21201, USA
    Genet Med 7:439-43. 2005
  17. ncbi Retention of medical genetics knowledge and skills by medical students
    Anne E Greb
    Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Genet Med 11:365-70. 2009
    ..To determine whether specific knowledge and skills medical students acquire after completing a Year 1 genetics course are retained at the end of Year 3...
  18. ncbi Consanguinity and its relevance to clinical genetics
    A Bittles
    Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth WA 6027, Australia
    Clin Genet 60:89-98. 2001
    ..This review examines the outcomes of consanguineous unions, with proposals as to how the ongoing preference for consanguinity in many communities can best be accommodated from a clinical genetics perspective...
  19. pmc Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics
    Michael A Nalls
    Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America
    PLoS Genet 5:e1000415. 2009
    ..Autozygosity has declined, and it seems it will continue doing so...
  20. pmc Genetic traces of ancient demography
    H C Harpending
    Department of Anthropology, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 95:1961-7. 1998
    ..This genetic evidence denies any version of the multiregional model of modern human origins. It implies instead that our ancestors were effectively a separate species for most of the Pleistocene...
  21. ncbi Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1
    N Yu
    Department of Ecology and Evolution, University of Chicago, 1101 East 57th Street, Chicago, IL 60637, USA
    Mol Biol Evol 18:214-22. 2001
    ..We suggest that both the "Out of Africa" and the multiregional models are too simple to explain the evolution of modern humans...
  22. ncbi Is medical genetics neglecting epigenetics?
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 4:399-402. 2002
  23. pmc Human population genetic structure and inference of group membership
    Michael J Bamshad
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Am J Hum Genet 72:578-89. 2003
    ..This suggests that a more flexible framework is needed for making inferences about population structure and the utility of proxies...
  24. ncbi Adjusting the focus on human variation
    M Przeworski
    Committee on Evolutionary Biology, University of Chicago, IL 60637, USA
    Trends Genet 16:296-302. 2000
    ..A possible explanation is that a subset of loci are not evolving neutrally; even so, more-complex models of effective population size and structure might be necessary to explain the data...
  25. ncbi Single nucleotide polymorphisms as tools in human genetics
    I C Gray
    Department of Biotechnology and Genetics, SmithKline Beecham Pharmaceuticals, New Frontiers Science Park, Third Avenue, Harlow, Essex CM19 5AW, UK
    Hum Mol Genet 9:2403-8. 2000
    ..Here we describe the current efforts to identify and characterize the large numbers of SNPs required and discuss the practicalities of association studies for the identification of genes involved in complex traits...
  26. ncbi Methods to detect selection in populations with applications to the human
    M Kreitman
    Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA
    Annu Rev Genomics Hum Genet 1:539-59. 2000
    ..The range of plausible alternatives to selection will become better defined, however, as additional population genetic data sets become available, allowing better null models to be constructed...
  27. ncbi The complex relationship of genetics, groups, and health: what it means for public health
    Ellen Wright Clayton
    Center for Genetics and Health Policy, Vanderbilt University, USA
    J Law Med Ethics 30:290-7. 2002
  28. pmc American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
    Lisa G Shaffer
    Health Research and Education Center, Washington State University Spokane, WA, USA
    Genet Med 7:650-4. 2005
    ..It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline...
  29. ncbi Comparative genomic hybridization
    Daniel Pinkel
    Comprehensive Cancer Center, Department of Laboratory Medicine, University of California, San Francisco, California 94143, USA
    Annu Rev Genomics Hum Genet 6:331-54. 2005
    ..In this review we discuss the state of the art of array CGH and its applications in medical genetics and cancer, emphasizing general concepts rather than specific results.
  30. ncbi Genetic associations: false or true?
    John P A Ioannidis
    Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine and Biomedical Research Institute, Foundation for Research and Technology Hellas, Ioannina, Greece
    Trends Mol Med 9:135-8. 2003
    ..However, a sizeable proportion of identified genetic associations are probably true. Meta-analysis, a rigorous, comprehensive, quantitative synthesis of all the available data, might help us to separate the true from the false...
  31. ncbi Genetics. The science and business of genetic ancestry testing
    Deborah A Bolnick
    Department of Anthropology, University of Texas, Austin, TX 78712, USA
    Science 318:399-400. 2007
  32. ncbi Use of array-based technology in the practice of medical genetics
    Melanie Manning
    Department of Pathology, Stanford University School of Medicine, Stanford, California, USA
    Genet Med 9:650-3. 2007
    ..We discuss the utility and limitations of using this technology in the evaluation of individuals with mental retardation and malformations, citing the existing literature...
  33. ncbi Establishing the essential nursing competencies for genetics and genomics
    Jean Jenkins
    National Human Genome Research Institute, NIH, Building 31, RM 4B09, Bethesda, MD 20892 2152, USA
    J Nurs Scholarsh 39:10-6. 2007
    ....
  34. pmc Two lessons from the interface of genetics and medicine
    Anthony C Allison
    SurroMed, Menlo Park, California 94025, USA
    Genetics 166:1591-9. 2004
  35. pmc Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation
    Mark D Shriver
    Penn State University, University Park, Pennsylvania, USA
    Hum Genomics 2:81-9. 2005
    ....
  36. pmc Concern for families and individuals in clinical genetics
    M Parker
    Ethox Centre, University of Oxford, Oxford, UK
    J Med Ethics 29:70-3. 2003
    ..Geneticists are likely to continue to be required to make moral judgments in the resolution of such tensions and may find it useful to have access to ethics training and support...
  37. ncbi Clinical epidemiological quality in molecular genetic research: the need for methodological standards
    S T Bogardus
    Department of Medicine, Yale University School of Medicine, New Haven, Conn 06504, USA
    JAMA 281:1919-26. 1999
    ..A genetic basis has been identified for many medical conditions and some molecular tests have been commercialized. However, little attention has been given to the quality of clinical epidemiology in molecular studies...
  38. ncbi Initial sequencing and analysis of the human genome
    E S Lander
    Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, Massachusetts 02142, USA
    Nature 409:860-921. 2001
    ..We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence...
  39. ncbi Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability
    John B Moeschler
    Dartmouth Medical School and Children s Hospital at Dartmouth, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire 03756, USA
    Curr Opin Neurol 21:117-22. 2008
    ....
  40. ncbi Genetics education for health professionals: strategies and outcomes from a national initiative in the United Kingdom
    Peter A Farndon
    NHS National Genetics Education and Development Centre, Morris House, c o Birmingham Women s Hospital, Edgbaston, Birmingham, UK
    J Genet Couns 17:161-9. 2008
    ..The engagement of national policy, regulatory and professional bodies is vital (www.geneticseducation.nhs.uk)...
  41. ncbi Medical genetics in Zulia, a State of Venezuela
    Sandra González-Ferrer
    Unit of Medical Genetics, Faculty of Medicine, Zulia University, Maracaibo, Venezuela
    Community Genet 7:153-6. 2004
    ..to 12,000 families, and has been responsible for undergraduate and postgraduate education in human and medical genetics. Prenatal diagnosis is performed at the Unit and a private practice group, the most frequent referral reason ..
  42. ncbi Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physician
    Regina E Ensenauer
    Department of Medical Genetics, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 78:846-57. 2003
    ..Until recently, medical genetics was considered a specialty of minor practical relevance...
  43. doi Internet resources in Medical Genetics
    Roberta A Pagon
    University of Washington, Seattle, Washington, USA
    Curr Protoc Hum Genet . 2006
    ....
  44. ncbi The new genetics and its consequences for family, kinship, medicine and medical genetics
    Kaja Finkler
    Department of Anthropology, University of North Carolina, Chapel Hill, CB3115 Alumni Building, Chapel Hill, NC 27514, USA
    Soc Sci Med 57:403-12. 2003
    ..We explore the degree to which medical genetics places the patient in a double bind between the qualitative certainty and quantitative uncertainty of genetic ..
  45. ncbi Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects
    Catherine Bennett
    NHS National Genetics Education and Development Centre, Morris House, c o Birmingham Women s Hospital, Edgbaston, Birmingham, B15 2TG, UK
    Fam Cancer 6:171-80. 2007
    ..This represents a current resource gap that will be of concern to cancer networks and a challenge to providers of educational resources and regional genetics services...
  46. ncbi Genetics and quality of life
    Jeff A Sloan
    Department of Health Science Research, Mayo Clinic, Rochester, Minnesota, USA
    Curr Probl Cancer 30:255-60. 2006
  47. ncbi Challenges of translating genetic tests into clinical and public health practice
    Wolf H Rogowski
    Helmholtz Center Munich, German Research Center for Environmental Health, Ingolstadter Landstrasse 1, Neuherberg 85764, Germany
    Nat Rev Genet 10:489-95. 2009
    ..We discuss the means to achieve an accelerated translation research agenda that is conducted in a reasonable, fair and efficient manner...
  48. ncbi DNA variations in human and medical genetics: 25 years of my experience
    Yusuke Nakamura
    Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
    J Hum Genet 54:1-8. 2009
    ....
  49. pmc Genetics, individuality, and medicine in the 21st century
    David Valle
    McKusnick Nathan Institute of Genetic Medicine, Departmentof Pediatrics, The Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, 21205 2185, USA
    Am J Hum Genet 74:374-81. 2004
  50. ncbi Implications of the human genome for understanding human biology and medicine
    G Subramanian
    Celera Genomics, 45 W Gude Dr, Rockville, MD 20850, USA
    JAMA 286:2296-307. 2001
    ..In addition, we show how this information lays the foundations for ongoing and future endeavors that will revolutionize biomedical research and our understanding of human health...
  51. ncbi Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004
    Bruce R Korf
    University of Alabama at Birmingham, Birmingham, AL, USA
    Genet Med 7:433-8. 2005
  52. ncbi A tutorial on statistical methods for population association studies
    David J Balding
    Department of Epidemiology and Public Health, Imperial College, St Marys Campus, Norfolk Place, London W2 1PG, UK
    Nat Rev Genet 7:781-91. 2006
    ..My goal is to outline the key methods with a brief discussion of problems (population structure and multiple testing), avenues for solutions and some ongoing developments...
  53. ncbi Education in medical genetics for physicians: Germany
    Jorg Schmidtke
    Hannover Medical School, Hannover, Germany
    Community Genet 9:235-9. 2006
    ..at the end of the relevant section at the undergraduate level include very few questions related to medical genetics, and particularly few in subjects such as pathology, internal medicine and gynaecology and obstetrics...
  54. ncbi Education in medical genetics for non-genetic health care providers in Sweden
    Karin Henriksson
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Community Genet 9:240-5. 2006
    ..Moreover, with regard to post-graduate education, it is almost absent. There is a need to improve education and training in genetics for all health care professionals to meet the expected increase in genetic issues in clinical medicine...
  55. ncbi Empowering primary care health professionals in medical genetics: how soon? How fast? How far?
    K Greendale
    Genetics Education and Information Program, Bureau of Chronic Disease Services, New York State Department of Health, USA
    Am J Med Genet 106:223-32. 2001
    ..Because of a perceived lack of medical genetics professionals, it is generally believed that primary health care providers (PCPs) will need to assume ..
  56. doi Human genetics: Dr Watson's base pairs
    Maynard V Olson
    Nature 452:819-20. 2008
  57. ncbi Minors and informed consent in carrier testing: a survey of European clinical geneticists
    P Borry
    Centre for Biomedical Ethics and Law, Katholieke Universiteit Leuven, Leuven, Belgium
    J Med Ethics 34:370-4. 2008
    ..A study was made of attitudes of clinical geneticists regarding the age at which minors should be allowed to undergo a carrier test and the reasons they provide to explain their answer...
  58. ncbi Essentially Yours: The Protection of Human Genetic Information in Australia--the impact on clinical practice and the 'new genetics'
    Ronald J A Trent
    University of Sydney, Australia
    Univ N S W Law J 26:807-12. 2003
  59. ncbi Applications of genomic medicine in endocrinology and post-genomic endocrine research
    Constantine A Stratakis
    Heritable Disorders Branch, Developmental Endocrinology Branch, DEB, National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Hormones (Athens) 4:38-44. 2005
    ..In the post-genomic, translational Medicine, Endocrinology once again could help us to understand cellular regulation and pathophysiology and to design new treatments...
  60. ncbi Ethical obligations and counseling challenges in cancer genetics
    Wylie Burke
    Department of Medical History and Ethics, University of Washington, Box 356120, 1959 NE Pacific, Room A204, Seattle, WA 98195 7120, USA
    J Natl Compr Canc Netw 4:185-91. 2006
    Cancer genetics is creating new practice opportunities in medical genetics, oncology, and primary care...
  61. ncbi [Human genome project: a federator program of genomic medicine]
    S Sfar
    Laboratoire d Immuno Oncologie Moleculaire, Faculte de medecine de Monastir, Avenue Avicenne, Monastir, Tunisia
    Pathol Biol (Paris) 56:170-5. 2008
    ..The pharmacogenomics could give rise to a new generation of highly effective drugs that treat causes, not just symptoms...
  62. ncbi Personalized medicine in the era of genomics
    Wylie Burke
    Center for Genomics and Healthcare Equality and Department of Medical History and Ethics, University of Washington, Seattle, WA 98195, USA
    JAMA 298:1682-4. 2007
  63. ncbi Genetics of common disease: a primary care priority aligned with a teachable moment?
    W Gregory Feero
    National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland 20892 2152, USA
    Genet Med 10:81-2. 2008
  64. doi Genetics and genomics in the practice of medicine
    Victoria A Joshi
    Harvard Medical School, Partners HealthCare Center for Genetics and Genomics, Boston, Massachusetts, USA
    Gastroenterology 134:1284-8. 2008
  65. pmc Medical ethics for the genome world: a paper from the 2007 William Beaumont hospital symposium on molecular pathology
    Kelly E Ormond
    Department of Genetics, Stanford University, Stanford, California, USA
    J Mol Diagn 10:377-82. 2008
    b>Medical genetics, and in particular the areas of genetic testing and genetic counseling, are replete with ethical and social issues...
  66. doi International genome project launched
    Erika Check Hayden
    Nature 451:378-9. 2008
  67. ncbi Understanding genetics: a primer for occupational health practice
    Lynette Wright
    Nell Hodgson Woodruff School of Nursing, Emory University, Atlanta, GA, USA
    AAOHN J 53:534-42; quiz 543-4. 2005
    ....
  68. doi Genome studies: genetics by numbers
    Monya Baker
    Nature 451:516-8. 2008
  69. ncbi Occupational and environmental health in the 21st century: the new frontier in genetics and disease prevention
    D Gary Rischitelli
    Oregon Health and Science University, Portland, USA
    AAOHN J 53:522-8. 2005
    ..The public must be educated about the potential promise, as well as the threats, posed by emerging genetic technologies...
  70. ncbi Problems with genome-wide association studies
    Scott M Williams
    Science 316:1840-2. 2007
  71. ncbi A 60-year tale of spots, maps, and genes
    Victor A McKusick
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 4922, USA
    Annu Rev Genomics Hum Genet 7:1-27. 2006
    ..The origins of medical genetics as a clinical specialty, of the Human Genome Project, of genomics (including the term), and of HUGO are ..
  72. ncbi A historical comparison of the development of specialist genetic nursing in the United Kingdom and Japan
    Heather Skirton
    Faculty of Health and Social Work, University of Plymouth, Taunton, UK
    Nurs Health Sci 8:231-6. 2006
    ..By comparison, in Japan, developments in genetic nursing have occurred over a shorter period of time, but minimum standards of competence already have been agreed upon...
  73. ncbi Functional genomics and its implications for molecular medicine
    Ulrich Broeckel
    Department of Medicine, Medical College of Wisconsin, and Department of Pediatrics, Children s Hospital of Wisconsin, 9000 W Wisconsin Avenue, Milwaukee, WI 53226, USA
    Pediatr Clin North Am 53:807-16, vii. 2006
    ..Ultimately how the unique genetic signature of an individual influences the risk and prognosis of disease will be the basis for individualized medicine in the years to come...
  74. ncbi Problems with genome-wide association studies
    Daniel Shriner
    Science 316:1840-2. 2007
  75. ncbi [Genetic diagnosis in medicine. An overview of basic concepts and applications]
    J Schmidtke
    Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, 30625 Hannover, BRD
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 49:982-8. 2006
    ..Data have been calculated for the years 1996- 2002. In this time interval, the number of individuals undergoing genetic testing doubled approximately every three years. The total number in 2002 can be estimated at 220,000...
  76. ncbi Genomics for health in preconception and prenatal periods
    Siobhan Dolan
    Obstetrics and Gynecology and Women s Health Albert Einstein College of Medicine, Montefiore Medical Center, Belfer 501, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    J Nurs Scholarsh 39:4-9. 2007
    ..To review and report changes in genomic-based knowledge and care during the preconception and prenatal periods...
  77. doi Genetic risk. With new disease genes, a bounty of questions
    Jennifer Couzin
    Science 319:1754-5. 2008
  78. doi 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
  79. ncbi [Linkage disequilibrium in the human genome and its exploitation]
    N Kharrat
    Unité de Bio informatique, Centre de Biotechnologie de Sfax, B P K, 3038 Sfax, Tunisie
    Arch Inst Pasteur Tunis 82:9-21. 2005
    ....
  80. ncbi Genetics in critical care: a toolbox
    Theresa A Beery
    College of Nursing, University of Cincinnati, Cincinnati, OH 45221 0038, USA
    Crit Care Nurs Clin North Am 20:139-48,v. 2008
    ..An appreciation of genetics (the study of heredity) and genomics (the study of the interaction of genes within an organism) has an important place in the knowledge base of every critical care clinician...
  81. ncbi Overview of linkage analysis in complex traits
    M A Pericak-Vance
    Duke University Medical Center, Durham, North Carolina, USA
    Curr Protoc Hum Genet . 2001
    ..The term complex genetic disease refers to a trait phenotype with an unknown mode of inheritance.The goal of this unit is to instruct the reader on the general approaches now available for mapping complex disease...
  82. ncbi Genetic discrimination. Long-awaited genetic nondiscrimination bill headed for easy passage
    Constance Holden
    Science 316:676. 2007
  83. ncbi Genome-wide association. Closing the net on common disease genes
    Jennifer Couzin
    Science 316:820-2. 2007
  84. pmc Medicine. The future of personal genomics
    Amy L McGuire
    Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA
    Science 317:1687. 2007
  85. ncbi Genetic profiling of newborns: ethical and social issues
    Brenda Almond
    Social Values Research Centre, University of Hull, Hull HU6 7RX, UK
    Nat Rev Genet 7:67-71. 2006
    ....
  86. ncbi Primer on medical genomics. Part III: Microarray experiments and data analysis
    Ayalew Tefferi
    Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 77:927-40. 2002
    ..The current review should serve as an introduction to the subject for clinician investigators, physicians and medical scientists in training, practicing clinicians, and other students of medicine...
  87. ncbi [Do we know our heritage? The Danish Society of Medical Genetics]
    Torben A Kruse
    Afdeling KKA, Odense Universitetshospital, DK 5000 Odense C
    Ugeskr Laeger 165:1244. 2003
  88. ncbi Integration of genetics into medical practice
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Hugh Kaul Human Genetics Bldg 230, Birmingham, AL 35294 0024, USA
    Growth Horm IGF Res 14:S146-9. 2004
    ..Throughout most of the 20th century, medical genetics has focused on rare monogenic and chromosomal disorders...
  89. ncbi The "new genetics" and clinical practice
    Ronald J A Trent
    Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW 2050, Australia
    Med J Aust 178:406-9. 2003
    ..From the patients' and families' perspective, the new genetics will best be implemented if a planned approach is adopted in the ordering of DNA tests and the associated counselling and support processes...
  90. ncbi The clinical geneticist and the "new genetics"
    Eric A Haan
    SA Clinical Genetics Service, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006
    Med J Aust 178:458-62. 2003
    ..The Internet will increasingly be a key source of information about genetic disorders for patients, their families and healthcare professionals...
  91. ncbi Genomics in medicine: hype or real promise? Interview by Ed Rabinowitz
    Steve Jones
    Healthplan 44:20-4. 2003
  92. ncbi [Application of DNA chip technology to biomedical research]
    W Y Park
    Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Korea
    Exp Mol Med 33:113-24. 2001
    ..We can check the multiple molecular markers for diagnosis, prediction or prognosis of specific diseases. Data from microarray will provide huge amounts of experssion profile, which might induce the transformation of biomedical research...
  93. ncbi Genetic research: mining for medical treasures
    Cathryn Delude
    FASEB J 17:787. 2003
  94. ncbi Role of the geneticist in testing and counseling for inherited thrombophilia
    Laura M Reich
    Vascular Medicine Program, University of Minnesota Medical School, Minneapolis, Minnesota, USA
    Genet Med 5:133-43. 2003
    ....
  95. ncbi [Genetic predisposition -- clinical consequences]
    Hj Müller
    Ther Umsch 60:433-4. 2003
  96. ncbi Attitudes toward genetic testing: gender, role, and discipline
    Laurinda B Harman
    Department of Health Information Management, College of Allied Health Professions, Temple University, Philadelphia, PA 19140, USA
    Top Health Inf Manage 24:50-8. 2003
    ..Statistical analyses revealed that discipline strongly influenced decision making while gender rarely did. In addition, differences in attitudes were also found based on parental and professional roles...
  97. ncbi From genomes to cures: the start of a long journey
    Andrew Moore
    EMBO, Heidelberg, Germany
    Trends Mol Med 8:104-5. 2002
    ..The EMBO/EMBL Science and Society Conference 'From Genomes to Cures', was held in Heidelberg, Germany, 16-18 November 2001...
  98. ncbi Polymorphic sequence variants in medicine: a challenge and an opportunity
    Shirley V Hodgson
    St George s Hospital Medical School, and St George s Hospital, London
    Clin Med 3:260-4. 2003
    ..The development of Biobank initiatives to promote the detection and evaluation of important polymorphic variants highlights the need to ensure appropriate confidentiality guarantees and continuing debate about the ethical issues...
  99. ncbi Genetic services
    D Donnai
    University of Manchester and Regional Genetic Service, Manchester, UK
    Clin Genet 61:1-6. 2002
    ....
  100. ncbi A general approach to genetic counseling
    Katie S Plunkett
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Obstet Gynecol Clin North Am 29:265-76. 2002
    ..Given the nature of genetic information, multiple sessions may be necessary to ensure that the patient understands the risks involved in his or her particular situation...
  101. ncbi [The road toward molecular comprehension of diseases]
    Ma Teresa Tusie Luna
    Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Instituto de Investigaciones Biomédicas de la UNAM
    Rev Invest Clin 55:143-7. 2003

Research Grants67

  1. Moral Distress and Suffering of Genetics Professionals
    Gail Geller; Fiscal Year: 2007
    ..Such an intervention would be aimed at renewing commitment to the profession and improving patient care. [unreadable] [unreadable] [unreadable]..
  2. PUBLICIZING GENETIC DISCOVERIES--THE IMPACT OF THE MEDIA
    Gail Geller; Fiscal Year: 2002
    ....
  3. A Vision of Hope: Integration of Palliative Care in Chronic Pediatric Diseases
    Cynda H Rushton; Fiscal Year: 2010
    ....
  4. Using Third-Party Data in Pedigree and Subgroup Analyses
    MORRIS FOSTER; Fiscal Year: 2005
    ..Finally, we will examine the implications of third-party information from the perspectives of study participants. We will conduct this project in the contexts of actual clinical populations. ..
  5. AFRICAN AMERICAN COMMUNITY REVIEW OF GENETIC RESEARCH
    MORRIS FOSTER; Fiscal Year: 2005
    ..We anticipate that different levels of community review will be applicable to different kinds of local and nested communities. ..
  6. EVALUATING USE OF GENETIC INFORMATION: A MODEL PROCESS
    Wylie Burke; Fiscal Year: 2003
    ..5. To conduct an evaluation of the model process within a large health care system. ..
  7. African-American Haplotype Map Engagement and Follow-up
    MORRIS FOSTER; Fiscal Year: 2004
    ..abstract_text> ..
  8. Toward Consensus on Benefit Sharing in Genetics Research
    Jon Merz; Fiscal Year: 2002
    ..The goal is not to find consensus, but to identify key issues and generate ideas to best satisfy the interests and needs of all involved parties. ..
  9. MODELING DNA DIVERSITY IN CARDIOVASCULAR HEALTH/DISEASE
    Kenneth Weiss; Fiscal Year: 2001
    ..These studies will provide an unprecedented ..
  10. GENETIC EPIDEMIOLOGY OF HYPERTENSION: GENOMIC CORES
    Aravinda Chakravarti; Fiscal Year: 2004
    ..The resulting synthesis of ideas and amassed data permits rigorous hypothesis testing not otherwise possible and will hasten understanding of the previously elusive genetic variation responsible for disease risk. ..
  11. Parallel Computer
    Jason Moore; Fiscal Year: 2004
    ..This resource will make it possible to carry out computationally intensive biomedical investigations otherwise not feasible thus significantly increasing the rate of scientific discovery in a variety of biomedical disciplines. ..
  12. Statistical Genetic Methods for Cancer Gene Studies
    Susan Slager; Fiscal Year: 2006
    ..abstract_text> ..
  13. Genetics Basis of Trauma Recovery
    Jason Moore; Fiscal Year: 2009
    ..abstract_text> ..
  14. Human Genomic Polymorphisms And Haplotypes
    Aravinda Chakravarti; Fiscal Year: 2008
    ..They have demonstrated experience and expertise in genomic variation technology and their applications to human disease and population genetics and DNA chip technology. ..
  15. Gordon Research Conferences: Collagen 2003, 2005, 2007
    Peter Byers; Fiscal Year: 2003
    ..The funds will be used to partially defray conferee travel expenses and registration fees for invited speakers and for young members of the research community. ..
  16. The Challenges of Autosomal Recessive and Other New Forms of OI
    Peter Byers; Fiscal Year: 2008
    ..It also will facilitate identification of new OI genes, identify new paths of research to benefit patients, and increase progress of the Linked Clinical Research Centers. [unreadable] [unreadable] [unreadable] [unreadable]..
  17. Human Genomic Polymorphism in Autism
    Aravinda Chakravarti; Fiscal Year: 2006
    ..In this proposal, we carry on the tradition from the previous funding cycle of developing novel genomic technologies that are of direct relevance to the genetic dissection of complex neuropsychiatric traits. [unreadable] [unreadable]..
  18. IDENTIFICATION AND EXPRESSION OF SKIN SPECIFIC GENES
    Peter Byers; Fiscal Year: 2002
    ....
  19. Mild Ol - Toward Better Understanding and Treatment
    Peter Byers; Fiscal Year: 2004
    ..abstract_text> ..
  20. New Research Strategies in Osteogenesis Imperfecta
    Peter Byers; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  21. GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASE
    Aravinda Chakravarti; Fiscal Year: 2008
    ..The long-term objective of this study is to understand the molecular genetic basis of HSCR. More generally, our aim is to develop a paradigm for sequence-based biology in complex, human diseases. [unreadable] [unreadable]..
  22. GENETIC ARCHITECTURE OF PLASMA T-PA AND PAI-1
    Jason Moore; Fiscal Year: 2004
    ..This collaborative proposal provides a robust mechanism for highly focused translational research in the molecular genetics and biology of the role of the fibrinolytic system in arterial and cerebral thrombosis. ..
  23. Cysteine, Related Gene Variants and Breast Cancer Risk
    Walter C Willett; Fiscal Year: 2010
    ....
  24. Academic Industry Relationships Among IRB Members
    Eric Campbell; Fiscal Year: 2005
    ..Results will be disseminated through publications in peer-reviewed journals and presentations at scientific meetings. ..
  25. Effect of HIV-1 Vpr on Basic Cellular Functions (II)
    Richard Zhao; Fiscal Year: 2007
    ..abstract_text> ..
  26. The Molecular Basis of Syndromic Retinitis Pigmentosa
    Susan Hayflick; Fiscal Year: 2007
    ..abstract_text> ..
  27. MECHANISM AND INSTABILITY OF SEGMENTAL DUPLICATIONS
    Evan E Eichler; Fiscal Year: 2010
    ....
  28. PAHs: Balance of Detoxication vs Metabolic Activation
    Daniel Nebert; Fiscal Year: 2009
    ..dissemination of ingested BaP and will be informative in clinical studies in which we would determine which haplotypes of these three human genes might be associated with resistance vs. sensitivity to PAH-induced toxicity and cancer. ..
  29. GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURES
    Ruth Ottman; Fiscal Year: 2007
    ..abstract_text> ..
  30. STATISTICAL METHODS FOR ANALYSIS OF FAILURE TIME DATA
    Rebecca Betensky; Fiscal Year: 2009
    ..The methods may lead to faster discovery of cancer genes and effective treatments and to better understanding of disease progression through more efficient use of resources. ..
  31. Dissecting the Aggregation of AMA in Families of PBC Patients
    Konstantinos Lazaridis; Fiscal Year: 2008
    ..If successful, our effort will shed light toward better understanding of the genetic predisposition to PBC. [unreadable] [unreadable]..
  32. Finding the Mouse Disorganization Gene
    Joseph Nadeau; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  33. Genetics and Stigma: The Role of Mass Media
    Jo Phelan; Fiscal Year: 2009
    ..Open-ended responses will be coded quantitatively to assess deviations in recall from the content of the article as well as attitudinal reactions. ..
  34. Prognostic Markers for Primary Cutaneous Melanoma
    Daniel Pinkel; Fiscal Year: 2006
    ....
  35. Data Sharing & Data Withholding Among Trainees in Scien*
    Eric Campbell; Fiscal Year: 2002
    ..Hypotheses will be tested using univariate and multivariate statistical techniques. Results will be disseminated through publications in peer-reviewed journals and presentations at scientific meetings. ..
  36. The Southern California Genotyping Consortium
    Nelson Freimer; Fiscal Year: 2004
    ..We also envision that the proposed consortium will foster new collaborations within and between the constituent institutions. ..
  37. LONG QT SYNDROME--GENETIC STUDIES
    Arthur Moss; Fiscal Year: 2002
    ....
  38. GENETICS OF SPECIATION IN DROSOPHILA
    EMANUEL HEY; Fiscal Year: 2001
    ....
  39. Cancer Virus Discovery by Computational Subtraction
    Matthew Meyerson; Fiscal Year: 2005
    ..These include auto-immune diseases and inflammatory diseases, as well as uncharacterized epidemics, whether natural or bio-terrorist in origin. ..
  40. An Irish Affected Sib Pair Study of Alcohol Dependence
    Kenneth Kendler; Fiscal Year: 2005
    ..To conduct this project we have assembled a team of experts in clinical assessment, statistical genetics and molecular genetics...
  41. Relationship of Morbidity and Mortality Between Spouses
    Nicholas Christakis; Fiscal Year: 2006
    ....
  42. POPULATION BASED STUDY OF HOSPICE USE AND CONSEQUENCES
    Nicholas Christakis; Fiscal Year: 2001
    ....
  43. White Matter Integrity in Familial Schizophrenia
    Lynn DeLisi; Fiscal Year: 2006
    ..Since this hypothesis has not been tested specifically in this way and is speculative, but if correct, may have a great impact on future research, we are using the R21 exploratory mechanism. ..
  44. Germ Line Interventions and Human Research Ethics
    Rebecca Dresser; Fiscal Year: 2003
    ..The project will yield two manuscripts, one aimed at a general audience and a more detailed monograph for groups asked to evaluate the ethical and regulatory acceptability of proposals to conduct germ line research in humans. ..
  45. GENETICS OF THE METABOLIC SYNDROME IN JAPANESE AMERICANS
    Melissa Austin; Fiscal Year: 2002
    ....
  46. DFNA1 IN INHERITED HEARING LOSS
    Mary Claire King; Fiscal Year: 2001
    ....
  47. The Interaction of Thyroid Hormone and Wnt Signaling Pathways in the Growth Plate
    ROBERT TRACY BALLOCK; Fiscal Year: 2010
    ....
  48. Preventing the Incidentalome
    Isaac S Kohane; Fiscal Year: 2010
    ..Evidence supporting this hypothesis will both serve as an important caution in the use of genetic testing and will also demonstrate the value of population studies to find the broader clinical significance of genetic mutations. ..
  49. CYTOKINE SIGNALING IN RENAL FIBROSIS
    Erwin Bottinger; Fiscal Year: 2009
    ..abstract_text> ..
  50. Reading disability QTLs: pooled DNA on microarrays
    Robert Plomin; Fiscal Year: 2008
    ..Identifying genes associated with reading disability will eventually lead to better diagnoses, individually tailored treatments, and interventions that can prevent the development of reading disability. ..
  51. Building a Latino admixture map & pilot study to find Type 2 Diabetes risk
    David Reich; Fiscal Year: 2007
    ..The study will also enable larger admixture mapping studies with many thousands of patients with Type 2 Diabetes, which we would like to pursue both in U.S. Latino and in Latin American populations. [unreadable] [unreadable] [unreadable]..
  52. Long Term Outcomes in ICU Patients: Delirium & Apolipoprotein E
    Sheila Alexander; Fiscal Year: 2009
    ..This would likely lead to decreased time in the ICU and hospital. ..
  53. Academic Industry Relationships in Genetics
    Eric Campbell; Fiscal Year: 2006
    ..Results will be disseminated through publications in peer-reviewed journals and presentations at scientific meetings. ..
  54. Breast Cancer Genomics in a Founder Population
    Mary Claire King; Fiscal Year: 2008
    ..Discovery of additional breast cancer genes of moderate penetrance in the AJ population will be important to women both in this population and generally. ..
  55. IMMUNOBIOLOGY OF AGING IN GENETICALLY ALTERED MICE
    Warren Ladiges; Fiscal Year: 2004
    ....
  56. Roles of TBX3 and its Isoform, TBX3+2a, in Breast Cancer
    Taosheng Huang; Fiscal Year: 2005
    ..By working with both an animal model and tissue acquired from breast surgeries, the proposed research aims to optimize the clinical relevance of the work. ..
  57. Statistical Methods for Analysis of Array CGH Data
    Rebecca Betensky; Fiscal Year: 2007
    ..Sound statistical methods are required for efficient and valid analyses of these important data. [unreadable] [unreadable]..
  58. Gene Polymorphisms and Kidney Transplant Outcome
    William Oetting; Fiscal Year: 2005
    ..abstract_text> ..
  59. Statistical tests for association with X-linked genes
    Eden Martin; Fiscal Year: 2007
    ..Thus, the statistical methods and software developed through this grant will have an immediate application in gene mapping studies, and will help researchers identify and localize these important X-linked genes. ..
  60. Design and analysis of adaptive multistage genetic association studies
    Edwin van den Oord; Fiscal Year: 2010
    ..The goal of this project is to develop a flexible framework for designing these studies in a cost-effective way and optimize subsequent replication efforts. ..
  61. OPTIMIZATION OF LASER MEDIATED CARTILAGE RESHAPING
    Brian Wong; Fiscal Year: 2003
    ..The MCSDA will provide the applicant with the fundamental skills needed to become an independent investigator in biomedical optics, and allow further development as a basic scientist. ..
  62. NonInvasive Optical Imaging of Vocal Cord Microstructure
    Brian Wong; Fiscal Year: 2004
    ..Application of OCT to microlaryngeal surgery may reduce iatrogenic phonatory disability by reducing trauma to delicate structures that accompanies conventional techniques. ..
  63. The ethics of consent for the public release of potentially identifiable DNA data
    Amy McGuire; Fiscal Year: 2009
    ..Moreover, it will increase our understanding of participants'judgments and attitudes toward data sharing, which will improve the overall conduct of biomedical research, build public trust, and foster research participation. ..
  64. Attenuation of Estrogen-Induced Cell Proliferation
    DOUGLAS WENDELL; Fiscal Year: 2003
    ..Aim #2 is to test the hypothesis that the BN allele of Edpm3 attenuates a component of paracrine growth control. Aim #3 is to identify growth regulatory factors whose estrogen-dependent expression is affected by Edpm3 genotype. ..