- HLBS-PopOmics -
Last Posted: May 17, 2018
- 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. Heres 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