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From CDC-Authored Genomics Publication Database

This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.

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• A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system.
  Lu Christine Y et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug
• Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
  Jennings Lawrence J et al. The Journal of molecular diagnostics : JMD 2017 Mar
• The Sudden Death in the Young Case Registry: Collaborating to Understand and Reduce Mortality.
  Burns Kristin M et al. Pediatrics 2017 Mar 139(3)
• Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data.
  Lynch Julie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug 19(8) 890-899
• Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family.
  Johnson Matthew G et al. Journal of public health management and practice : JPHMP 2016 Dec
• Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships.
  Kalman Lisa V et al. Annals of laboratory medicine 2016 Nov 36(6) 513-20
• Sensitive sentinel mutation screening reveals differential underestimation of transmitted HIV drug resistance among demographic groups.
  Li Jin-Fen et al. AIDS (London, England) 2016 Mar
• Implementation of the 21-gene recurrence score test in the United States in 2011.
  Lynch Julie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb
• Clinical utility of genetic and genomic services: context matters.
  Dotson W David et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 18(7) 672-4
• Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.
  Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2015 Nov
• Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the Unites States Assisted Reproductive Technology Surveillance Data, 2011-2012.
  Chang Jeani et al. Fertility and sterility 2015 Nov
• Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting.
  Kalman Lisa V et al. Clinical pharmacology and therapeutics 2015 Oct
• Fragile X Syndrome: Scientific Background and Screening Technologies.
  Lyons Justine I et al. J Mol Diagn 2015 Jul 7.
• The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: corrected estimates.
  Grosse Scott D et al. Genet. Med. 2015 Jun 17(6) 510-1
• ClinGen--the Clinical Genome Resource.
  Rehm Heidi L et al. The New England journal of medicine 2015 372(23) 2235-42
• Can targeted genetic testing offer useful health information to adoptees?
  May Thomas et al. Genet. Med. 2015 Jul 2. 17(7) 533-5
• Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
  Taylor Jennifer L et al. Clin. Chem. 2015 Feb 61(2) 412-9
• An overview of recommendations and translational milestones for genomic tests in cancer.
  Chang Christine Q et al. Genet. Med. 2015 Jun 17(6) 431-40
• Public awareness of genetic nondiscrimination laws in four States and perceived importance of life insurance protections.
  Parkman Alicia A et al. J Genet Couns 2015 Jun 24(3) 512-21
• Severity of rhinovirus infection in hospitalized adults is unrelated to genotype.
  McCulloch Denise J et al. Am. J. Clin. Pathol. 2014 Aug 142(2) 165-72
• Utility before business.
  Teutsch Steven M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec 16(12) 869-70
• A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.
  Koontz Deborah et al. J Mol Diagn 2014 Sep 16(5) 533-40
• Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system.
  Bellcross Cecelia A et al. Genet. Med. 2015 Jan 17(1) 43-50
• Strategies, actions, and outcomes of pilot state programs in public health genomics, 2003-2008.
  St Pierre Jeanette et al. Prev Chronic Dis 2014 11E97
• Determination of accuracy of polycythemia vera diagnoses and use of the JAK2V617F test in the diagnostic scheme.
  Roda Paul et al. Ann. Hematol. 2014 Sep 93(9) 1467-72
• Discordance between self-report and genetic confirmation of sickle cell disease status in African-American adults.
  Bean Christopher J et al. Public Health Genomics 2014 17(3) 169-72
• Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
  Kalman Lisa V et al. J Mol Diagn 2014 Mar 16(2) 273-9
• Prioritizing genomic applications for action by level of evidence: a horizon-scanning method.
  Dotson W D et al. Clinical pharmacology and therapeutics 2014 Apr 95(4) 394-402
• Frequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race-ethnicity, and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996-2005.
  Jackson Jodi M et al. Am. J. Med. Genet. A 2014 Jan 164A(1) 70-6
• Economic analyses of genetic tests in personalized medicine: clinical utility first, then cost utility.
  Grosse Scott D et al. Genet. Med. 2014 Mar 16(3) 225-7
• Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome in the Index Case or Her Relatives.
  Stewart Alison et al. PLoS Curr 2013 5
• Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?
  Rogowski Wolf H et al. Eur. J. Hum. Genet. 2014 Jan 22(1) 25-31
• Recommendations for returning genomic incidental findings? We need to talk!
  Burke Wylie et al. Genet. Med. 2013 Nov 15(11) 854-9
• Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
  Kalman Lisa et al. J Mol Diagn 2013 Jul 15(4) 518-25
• Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review.
  Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2013 Aug 15(8) 600-11
• Utilization of epidermal growth factor receptor (EGFR) testing in the United States: a case study of T3 translational research.
  Lynch Julie A et al. Genet. Med. 2013 Aug 15(8) 630-8
• Modeling uncertain outcomes of genetic testing: factor V Leiden mutation and pregnant women.
  Grosse Scott D et al. Genet. Med. 2013 May 15(5) 335-7
• How can polygenic inheritance be used in population screening for common diseases?
  Khoury Muin J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2013 Jun 15(6) 437-43
• Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.
  Bellcross Cecelia A et al. Cancer Epidemiol. Biomarkers Prev. 2013 Apr 22(4) 728-35
• Genomics and autism spectrum disorder.
  Johnson Norah L et al. J Nurs Scholarsh 2013 Mar 45(1) 69-78
• Effective communication of molecular genetic test results to primary care providers.
  Scheuner Maren T et al. Genet. Med. 2013 Jun 15(6) 444-9
• Public health action in genomics is now needed beyond newborn screening.
  Bowen M S et al. Public health genomics 2012 15(6) 327-34
• Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update.
  Veenstra David L et al. Genet. Med. 2013 Jan 15(1) 14-24
• Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice.
  Kolor Katherine et al. Genet. Med. 2012 Oct 14(10) 860-7
• A report template for molecular genetic tests designed to improve communication between the clinician and laboratory.
  Scheuner Maren T et al. Genet Test Mol Biomarkers 2012 Jul 16(7) 761-9
• Multilevel research and the challenges of implementing genomic medicine.
  Khoury Muin J et al. J. Natl. Cancer Inst. Monographs 2012 May 2012(44) 112-20
• Implications of Internet availability of genomic information for public health practice.
  Hesse B W et al. Public Health Genomics 2012 15(3-4) 201-8
• Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies.
  Deverka Patricia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2012 Jul 14(7) 656-62
• Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).
  Weck Karen E et al. Genet. Med. 2012 Mar 14(3) 306-12
• Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.
  Bellcross Cecelia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2012 Jan 14(1) 152-62
• Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005.
  Jackson Jodi M et al. Am. J. Med. Genet. A 2012 Jan 158A(1) 116-23
• CFTR mutation analysis and haplotype associations in CF patients.
  Cordovado S K et al. Mol. Genet. Metab. 2012 Feb 105(2) 249-54
• Qualitative assessment of study materials and communication strategies used in studies that include DNA collection.
  Jenkins Mary M et al. Am. J. Med. Genet. A 2011 Nov 155A(11) 2721-31
• Ethical implications and practical considerations of ethnically targeted screening for genetic disorders: the case of hemoglobinopathy screening.
  Hinton Cynthia F et al. Ethn Health 16(4-5) 377-88
• Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study.
  Trivers Katrina F et al. Cancer 2011 Dec 1. 117(23) 5334-43
• Genetic testing for lynch syndrome in individuals newly diagnosed with colorectal cancer to reduce morbidity and mortality from colorectal cancer in their relatives.
  Coates Ralph et al. PLoS Curr 2011 3RRN1246
• Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians.
  Bellcross Cecelia A et al. American journal of preventive medicine 2011 Jan 40(1) 61-6

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