Genomic Tests & Practice
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein CA, et al. Genome Biol 2014 Mar;15(3):R53
Brownstein CA, et al. Genome Biol 2014 Mar;15(3):R53
Discordance between self-report and genetic confirmation of sickle cell disease status in African-American adults
Bean CJ, et al. Public Health Genomics 2014 Mar 28
Bean CJ, et al. Public Health Genomics 2014 Mar 28
CDC information: ¼ adults claiming to have sickle cell disease didn't have SCD or sickle cell trait. What's your status?
Genetic counselors' views and experiences with the clinical integration of genome sequencing
Machini K, et al. J Genet Couns 2014 Mar
Machini K, et al. J Genet Couns 2014 Mar
Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery
Vicki Modell, et al. Immunologic Research March 2014
Vicki Modell, et al. Immunologic Research March 2014
Huntington disease: natural history, biomarkers and prospects for therapeutics.
Ross CA, et al.. Nat Rev Neurol. 2014 Mar 11
Ross CA, et al.. Nat Rev Neurol. 2014 Mar 11
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study.
Anderson LJ, et al. J Inherit Metab Dis. 2014 Mar 18
Anderson LJ, et al. J Inherit Metab Dis. 2014 Mar 18
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