January is Birth Defects Prevention Month

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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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• Health and Development at Age 19-24 Months of 19 Children Who Were Born with Microcephaly and Laboratory Evidence of Congenital Zika Virus Infection During the 2015 Zika Virus Outbreak - Brazil, 2017.
  Satterfield-Nash Ashley et al. MMWR. Morbidity and mortality weekly report 2017 Dec 66(49) 1347-1351
• Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene-environment interactions.
  Jenkins Mary M et al. Genetic epidemiology 2017 Dec 41(8) 834-843
• Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
  Kaufmann Walter E et al. Pediatrics 2017 Jun 139(Suppl 3) S194-S206
• FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
  Sherman Stephanie L et al. Pediatrics 2017 Jun 139(Suppl 3) S183-S193
• A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts.
  Moreno Uribe L M et al. Journal of dental research 2017 Jun 22034517716914
• Zika Virus RNA Replication and Persistence in Brain and Placental Tissue.
  Bhatnagar Julu et al. Emerging infectious diseases 2017 Mar (3)
• Zika Virus 6 Months Later.
  Frieden Thomas R et al. JAMA 2016 Oct (14) 1443-1444
• Genotypes of rubella virus and the epidemiology of rubella infections in the Democratic Republic of the Congo, 2004-2013.
  Pukuta Elizabeth et al. Journal of medical virology 2016 Oct (10) 1677-84
• Zika Virus Infection with Prolonged Maternal Viremia and Fetal Brain Abnormalities.
  Driggers Rita W et al. The New England journal of medicine 2016 Jun (22) 2142-51
• Gene expression profiling of rubella virus infected primary endothelial cells of fetal and adult origin.
  Geyer Henriette et al. Virology journal 2016 13(1) 21
• Challenges in Studying Modifiable Risk Factors for Birth Defects.
  Tinker Sarah C et al. Curr Epidemiol Rep 2015 Mar 2(1) 23-30
• Fragile X Syndrome: Scientific Background and Screening Technologies.
  Lyons Justine I et al. J Mol Diagn 2015 Jul 7.
• Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.
  Olney Richard S et al. Semin. Perinatol. 2015 Apr 39(3) 230-7
• Rubella.
  Lambert Nathaniel et al. Lancet 2015 Jun 6. 385(9984) 2297-307
• Universal state newborn screening programs can reduce health disparities.
  Brosco Jeffrey P et al. JAMA Pediatr 2015 Jan 169(1) 7-8
• 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
• A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability.
  Ouyang Lijing et al. Research in developmental disabilities 2014 Jul 35(7) 1518-27
• Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.
  Jenkins Mary M et al. Am. J. Med. Genet. A 2014 Jun 164A(6) 1454-63
• A public health economic assessment of hospitals' cost to screen newborns for critical congenital heart disease.
  Peterson Cora et al. Public Health Rep 129(1) 86-93
• Elimination of endemic measles, rubella, and congenital rubella syndrome from the Western hemisphere: the US experience.
  Papania Mark J et al. JAMA Pediatr 2014 Feb 168(2) 148-55
• 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
• Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study-United States, 1997-2007.
  Glidewell Jill et al. Genet. Med. 2014 Apr 16(4) 329-37
• Proportion of neural tube defects attributable to known risk factors.
  Agopian A J et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2013 Jan 97(1) 42-6
• Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project.
  Hollis NaTasha D et al. Am. J. Med. Genet. A 2013 Mar 161A(3) 438-44
• Newborn screening for critical congenital heart disease: essential public health roles for birth defects monitoring programs.
  Olney Richard S et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2012 Dec 94(12) 965-9
• Testing the feasibility of a National Spina Bifida Patient Registry.
  Thibadeau Judy K et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2013 Jan 97(1) 36-41
• Survival among people with Down syndrome: a nationwide population-based study in Denmark.
  Zhu Jin Liang et al. Genet. Med. 2013 Jan 15(1) 64-9
• Cancer in children with nonchromosomal birth defects.
  Fisher Paul Graham et al. J. Pediatr. 2012 Jun 160(6) 978-83
• 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
• 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
• Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project.
  Bean Lora J H et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2011 Oct 91(10) 885-93
• 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
• Down syndrome: national conference on patient registries, research databases, and biobanks.
  Oster-Granite Mary Lou et al. Mol. Genet. Metab. 104(1-2) 13-22
• Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
  Luo Yue et al. Hum. Mol. Genet. 2011 Oct 1. 20(19) 3769-78
• The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.
  Hartman Robert J et al. Pediatr Cardiol 2011 Dec 32(8) 1147-57
• Evaluation of mailed pediatric buccal cytobrushes for use in a case-control study of birth defects.
  Gallagher Margaret L et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2011 Jul 91(7) 642-8

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