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Title : Congenital Heart Defects - HLBS-PopOmics -
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Congenital Heart Defects - HLBS-PopOmics -

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Congenital Heart Defects

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Last Posted: Feb 15, 2018

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• Facts about Congenital Heart Defects
  The causes of most cases are unknown but some are caused by genetic diseases and gene-environment interactions
• MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.  
  Yu Di et al. Italian journal of pediatrics 2017 Dec 43(1) 108
• Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects.  
  Turan Sifa et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Dec
• Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.  
  Abouk Rahi et al. JAMA 2017 Dec 318(21) 2111-2118
• The Success of State Newborn Screening Policies for Critical Congenital Heart Disease  
  Kemper Alex R et al. JAMA 2017 Dec 318(21) 2087-2088
• 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
• Making the decision to participate in predictive genetic testing for arrhythmogenic right ventricular cardiomyopathy.  
  Manuel April et al. Journal of genetic counseling 2014 Dec 23(6) 1045-55
• Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.  
  LaHaye Stephanie et al. Circulation. Cardiovascular genetics 2016 Aug 9(4) 320-9
• The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.  
  Helm Benjamin M et al. Journal of genetic counseling 2017 Oct
• Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.  
  Ahrens-Nicklas Rebecca C et al. American journal of medical genetics. Part A 2016 Dec 170(12) 3090-3097

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