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Title : Blood Diseases - HLBS-PopOmics -
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Blood Diseases - HLBS-PopOmics -

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Blood Diseases

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Last Posted: May 17, 2018

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• Newborn Screening for Severe Combined Immunodeficiency.  
  Routes John et al. Current allergy and asthma reports 2018 May 18(6) 34
• Population Screening for Hemoglobinopathies.  
  Goonasekera H W et al. Annual review of genomics and human genetics 2018 May
• Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.  
  Punj Sumit et al. American journal of human genetics 2018 May
• Assessment of Hereditary Thrombophilia: Performance of Antithrombin (AT) Testing.  
  Gausman Jana N et al. Methods in molecular biology (Clifton, N.J.) 2017 1646161-167
• Assessment of Hereditary Thrombophilia: Performance of Protein C (PC) Testing.  
  Marlar Richard A et al. Methods in molecular biology (Clifton, N.J.) 2017 1646145-151
• Assessment of Hereditary Thrombophilia: Performance of Protein S (PS) Testing.  
  Marlar Richard A et al. Methods in molecular biology (Clifton, N.J.) 2017 1646153-160
• Clinical and laboratory phenotype variability in type 2M von Willebrand disease.  
  Doruelo A L et al. Journal of thrombosis and haemostasis : JTH 2017 Aug 15(8) 1559-1566
• Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia.  
  Fortin Patricia M et al. The Cochrane database of systematic reviews 2018 May 5CD012349
• Laboratory Testing for Activated Protein C Resistance (APCR).  
  Mohammed Soma et al. Methods in molecular biology (Clifton, N.J.) 2017 1646137-143
• Resignifying the sickle cell gene: Narratives of genetic risk, impairment and repair.  
  Berghs Maria et al. Health (London, England : 1997) 2017 Mar 21(2) 171-188
• A much-needed sickle cell drug reaches a critical readout. Here’s what you need to know  
  A Feurstein, Stat News Plus, May 4, 2018
• Cryo-EM Images Capture Key Enzyme Tied to Cancer, Aging  
  NIH Director Blog, May 1, 2018
• Doctors cure seven adult patients of sickle cell disease using stem cells  
  The Guardian, Apr 27, 2018
• Education of parents and providers is needed to optimize life-saving immunizations for children with sickle cell disease.  
  Long Sarah S et al. The Journal of pediatrics 2018 May 1963
• Gene therapy reduces need for transfusions in severe blood disorder  
  NIH Research Matters, May 1, 2018

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