Genetics, Medical

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  Subject Areas on Research

  • "That's a good question": university researchers' views on ownership and retention of human genetic specimens. 
  • A Global Collaborative to Advance Genomic Medicine. 
  • A global reference for human genetic variation. 
  • A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. 
  • American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. 
  • An integrated map of genetic variation from 1,092 human genomes. 
  • Clinical experience with array CGH: case presentations from nine months of practice. 
  • Clinical genomics in the world of the electronic health record. 
  • Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG). 
  • Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. 
  • Correlations of test skin grafts and renal allograft function in human subjects genotyped for HL-A. 
  • Development of human protein reference database as an initial platform for approaching systems biology in humans. 
  • Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). 
  • Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). 
  • Emerging clinical applications of RNA. 
  • Evolutionary effects of contagious and familial transmission. 
  • Genetic approaches for the investigation of genes associated with coronary heart disease. 
  • Genetic association studies; the good, the bad, and the ugly. 
  • Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want? 
  • Genetic studies: look no further than your own backyard. 
  • Genetics and the future of clinical psychiatry. 
  • Genomic medicine: genetic variation and its impact on the future of health care. 
  • Genomic mismatch scanning: a new approach to genetic linkage mapping. 
  • Glycogen storage disease types I and II: treatment updates. 
  • HEREDITARY RETINOSCHISIS WITH RETINAL DETACHMENT. 
  • How Darwinian reductionism refutes genetic determinism. 
  • Immunogenetics of consanguineous allografts in man. I. Histocompatibility testing and skin allografts. 
  • Immunogenetics of consanguineous allografts in man. II. Correlation of renal allografting with HL-A genotyping. 
  • Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand. 
  • Implementing genomic medicine in the clinic: the future is here. 
  • Initial sequencing and analysis of the human genome. 
  • Integrating Medical Genetics Into Precision Oncology Practice in the Veterans Health Administration: The Time Is Now. 
  • Integrating genetic information resources with an EHR. 
  • Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). 
  • Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. 
  • Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 
  • Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 
  • Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. 
  • Letting the genome out of the bottle. 
  • Living laboratory: whole-genome sequencing as a learning healthcare enterprise. 
  • Long-term results with forty-five living related renal allograft recipients genotypically identical for HLA. 
  • Medical genomics: Gather and use genetic data in health care. 
  • Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equations. 
  • Neuroimaging and human genetics. 
  • Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 
  • Offering aggregate results to participants in genomic research: opportunities and challenges. 
  • Only connect: personal genomics and the future of American medicine. 
  • Pedigree selection and information content. 
  • Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut. 
  • Personalized medicine: revolutionizing drug discovery and patient care. 
  • Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). 
  • Primary-care physicians' access to genetic specialists: an impediment to the routine use of genomic medicine? 
  • Qualitative study of system-level factors related to genomic implementation. 
  • Regulation: The FDA is Overcautious on Consumer Genetics 
  • Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon. 
  • Research capacity. Enabling the genomic revolution in Africa. 
  • Response to Rosenberg et al. 
  • The DNA sequence of the human X chromosome. 
  • The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. 
  • The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). 
  • The future of Physiological Genomics. 
  • The path to personalized medicine. 
  • The routinisation of genomics and genetics: implications for ethical practices. 
  • Thinness--not obesity--has a genetic component. 
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  Keywords of People

  • Allen, Andrew Scott, Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • Farahany, Nita A., Robinson O. Everett Distinguished Professor of Law, Duke Science & Society
  • Halabi, Susan, Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • Landstrom, Andrew Paul, Associate Professor of Pediatrics, Cell Biology
  • Nackley, Andrea Gail, Associate Professor in Anesthesiology, Pharmacology & Cancer Biology
  • Orlando, Lori Ann, Professor of Medicine, Medicine, General Internal Medicine