Infant mortality NEWS: June 23-30, 2016 ▲ Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)



June 23-30, 2016


Last Updated: Jun 23, 2016

• Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England.
  Salway Sarah et al. Journal of community genetics 2016 Jun
• A Cost-Effectiveness Analysis of a Pilot Neonatal Screening Program for Sickle Cell Anemia in the Republic of Angola.
  McGann Patrick T et al. The Journal of pediatrics 2015 Dec 167(6) 1314-9
• Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
  Gessner Bradford D, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 1
• Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB] 
  Disease: Multiple Diseases; Type: Tools|Program; State: Illinois
• Health policy for sickle cell disease in Africa: experience from Tanzania on interventions to reduce under-five mortality.
  Makani Julie et al. Trop. Med. Int. Health 2015 Feb 20(2) 184-7
• Changing Trends in Carrier Screening for Genetic Disease in the United States.
  Nazareth Shivani B et al. Prenat. Diagn. 2015 Jul 3.
• Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
  Larrandaburu Mariela et al. J Community Genet 2015 May 29.
• The effect of consanguinity on neonatal outcomes and health.
  Abbas Hussein A et al. Hum. Hered. 2014 (1-4) 87-92
• Replication of the 4p16 susceptibility locus in congenital heart disease in Han Chinese populations.
  Zhao Bijun, et al. PloS one 2014 0 (9) e107411
• PITX2c loss-of-function mutations responsible for congenital atrial septal defects.
  Yuan Fang, et al. International journal of medical sciences 2013 0 (10) 1422-9
• Novel PITX2c loss-of-function mutations associated with complex congenital heart disease.
  Wei Dong, et al. International journal of molecular medicine 2014 5 (5) 1201-8
• Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.
  Muthuswamy Srinivasan, et al. Gene 2014 4 (1) 125-31
• Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight.
  Zheng Xiaojing, et al. Frontiers in genetics 2013 0 196
• A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola.
  McGann Patrick T, et al. American journal of hematology 2013 12 (12) 984-9
• Toll-like receptor variants are associated with infant HIV-1 acquisition and peak plasma HIV-1 RNA level.
  Beima-Sofie Kristin M, et al. AIDS (London, England) 2013 9 (15) 2431-9
• A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
  Hu Zhibin, et al. Nature genetics 2013 7 (7) 818-21
• Carnitine Palmitoyltransferase I and Sudden Unexpected Infant Death in British Columbia First Nations.
  Sinclair GB, et al. Pediatrics 2012 10
• Investigation of genetic risk factors for chronic adult diseases for association with preterm birth.
  Falah Nadia, et al. Human genetics 2013 1 (1) 57-67
• Rare copy number variants contribute to congenital left-sided heart disease.
  Hitz Marc-Phillip, et al. PLoS genetics 2012 9 (9) e1002903
• GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.
  Wei Dong, et al. Pediatric cardiology 2013 3 (3) 504-11
• High-resolution melting (HRM) analysis as a feasible method for detecting spinal muscular atrophy via dried blood spots.
  Er Tze-Kiong, et al. Clinica chimica acta; international journal of clinical chemistry 2012 11 (21-22) 1781-5
• Association between a functional polymorphism in the MAOA gene and sudden infant death syndrome.
  Klintschar Michael, et al. Pediatrics 2012 3 (3) e756-61
• Association of the rs1424954 polymorphism of the ACVR2A gene with the risk of pre-eclampsia is not replicated in a Finnish study population.
  Lokki A Inkeri, et al. BMC research notes 2011 0 (1) 545
• Functional promoter haplotypes of interleukin-18 condition susceptibility to severe malarial anemia and childhood mortality.
  Anyona Samuel B, et al. Infection and immunity 2011 12 (12) 4923-32
• Fucosyltransferase 2 non-secretor and low secretor status predicts severe outcomes in premature infants.
  Morrow Ardythe L, et al. The Journal of pediatrics 2011 5 (5) 745-51
• Analysis of RTN4 3'UTR insertion/deletion polymorphisms in ventricular septal defect in a Chinese Han population.
  Chen Yu, et al. DNA and cell biology 2011 5 (5) 323-7
• Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.
  Gessner Bradford D, et al. Pediatrics 2010 11 (5) 945-51
• Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
  Collins Sorcha A, et al. Molecular genetics and metabolism 0 0 (2-3) 200-4
• Relationship between preterm labor and thrombophilic gene polymorphism: A prospective sequential cohort study.
  Uvuz Firdevs, et al. Gynecologic and obstetric investigation 2009 0 (4) 234-8
• Natural selection of FLT1 alleles and their association with malaria resistance in utero.
  Muehlenbachs Atis, et al. Proceedings of the National Academy of Sciences of the United States of America 2008 9 (38) 14488-91

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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