Birth defects UPDATE | June 30 - July 7, 2016 | Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)





June 30 - July 7, 2016 




Last Updated: Jul 01, 2016

• IGNITE: Implementing Genomics in Practice
  Disease: Multiple Diseases; Type: Education|Tools; State: Multiple States
• Clinical utility gene card for: Arterial tortuosity syndrome.
  Albuisson Juliette et al. European journal of human genetics : EJHG 2015 Oct 23(10)
• Clinical utility gene card for: Cornelia de Lange syndrome.
  Ramos Feliciano J et al. European journal of human genetics : EJHG 2015 Oct 23(10)
• Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12-year retrospective chart review.
  Baughman Serena Talcott et al. American journal of medical genetics. Part A 2015 Oct 167A(10) 2350-6
• Killer-cell immunoglobulin-like receptors and cytomegalovirus reactivation during late pregnancy.
  Alvarado-Hernández D L, et al. International journal of immunogenetics 2016 6
• Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.
  Mitra Amit K, et al. Frontiers in genetics 2016 0 88
• Direct-to-consumer genetic testing: Perspectives on its value in healthcare.
  Delaney S K et al. Clinical pharmacology and therapeutics 2016 Feb 99(2) 146-8
• Association of MSX1 c.*6C?>?T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients.
  Aslar Oner Deniz, et al. Genetic testing and molecular biomarkers 2016 5
• Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.
  Hayeems Robin Z et al. European journal of human genetics : EJHG 2015 Sep 23(9) 1135-41
• Clinical utility gene card for: Alport syndrome - update 2014.
  Hertz Jens Michael et al. European journal of human genetics : EJHG 2015 Sep 23(9)
• Determining the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and genomic DNA methylation level: A meta-analysis.
  Wang Li, et al. Birth defects research. Part A, Clinical and molecular teratology 2016 5
• Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.
  Wang Yirui, et al. Gene 2016 4
• Joint effects of genetic variants and residential proximity to pesticide applications on hypospadias risk.
  Carmichael Suzan L, et al. Birth defects research. Part A, Clinical and molecular teratology 2016 4
• A multi-ethnic genome-wide association study identifies novel loci for nonsyndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q31.
  Leslie Elizabeth J, et al. Human molecular genetics 2016 3
• Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population.
  Yu Li-Wei, et al. Scientific reports 2016 0 23662

• CDC Information (14)
• CDC-Authored Pub (23)

• Human (26)
• Pathogen (0)

• Human (2248)
• Pathogen (0)

Human (104)

Pathogen (0)

• Guidelines (0)
• Tier Table (0)
• Synthesis (35)

• Implementation (24)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB