From Genomics & Health Impact Scan Database
This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.
- ANNALS EXPRESS: Molecular testing for familial hypercholesterolemia-associated mutations in a UK-based cohort: Development of an NGS-based method and comparison with multiplex PCR and oligonucleotide arrays.
Reiman Ann et al. Annals of clinical biochemistry 2016 Jan
- PCSK9 and Clinical Outcomes in Hypercholesterolemia
American College of Cardiology, November 24, 2015
- Universal Screening for Familial Hypercholesterolemia in Children.
Klancar Gašper et al. J. Am. Coll. Cardiol. 2015 Sep 15. 66(11) 1250-7
- Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Medeiros Ana Margarida et al. Genet. Med. 2015 May 28.
- Genetic testing of korean familial hypercholesterolemia using whole-exome sequencing.
Han Soo Min et al. PLoS ONE 2015 10(5) e0126706
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