Familial hypercholesterolemia NEWS: June 9-16, 2016 ▲ Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)



June 9-16, 2016 




Last Updated: Jun 09, 2016

• Cardiovascular Disease Risk Associated With Familial Hypercholesterolemia: A Systematic Review of the Literature.
  Wong Bruce et al. Clinical therapeutics 2016 May
• Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
  Khera Amit V et al. Journal of the American College of Cardiology 2016 Jun 67(22) 2578-89
• Familial Hypercholesterolemia: Now Part of Cardiovascular Disease Genetic Epidemiology Research.
  Gidding Samuel S et al. Journal of the American College of Cardiology 2016 Jun 67(22) 2590-2
• My Approach to the Patient With Familial Hypercholesterolemia.
  Safarova Maya S et al. Mayo Clinic proceedings 2016 Jun 91(6) 770-86
• Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.
  Santos Raul D et al. The lancet. Diabetes & endocrinology 2016 May
• Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
  AV Khera et al, JACC, June 6, 2016
• Feasibility of improving identification of familial hypercholesterolaemia in general practice: intervention development study.
  Qureshi Nadeem et al. BMJ open 2016 6(5) e011734
• Predictors of cardiovascular events after one year of molecular screening for Familial hypercholesterolemia.
  Silva Pãmela R S, et al. Atherosclerosis 2016 5 144-150
• Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
  Ohta Naotaka, et al. Journal of clinical lipidology 0 0 (3) 547-555.e5
• Familial hypercholesterolemia presents 'terrible paradox',
  by Joshua W. Knowles, Healio, May 22, 2016
• Familial hypercholesterolemia: cholesterol efflux and coronary disease.
  Versmissen Jorie et al. European journal of clinical investigation 2016 May
• Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases.
  George Rani et al. Journal of genetic counseling 2015 Jun 24(3) 388-99
• MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.
  Kolovou Genovefa D, et al. Journal of atherosclerosis and thrombosis 2016 5
• Prediction of genetic risk factors of atherosclerosis using various bioinformatic tools.
  Wang H X, et al. Genetics and molecular research : GMR 2016 0 (2)
• Genetic susceptibility to cerebrovascular disease.
  Della-Morte David et al. Current opinion in lipidology 2016 Apr 27(2) 187-95
• Identifying familial hypercholesterolemia in acute coronary syndrome.
  Gencer Baris et al. Current opinion in lipidology 2016 Apr
• Expert consensus on the rational clinical use of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors.
  Achimastos Apostolos et al. Hormones (Athens, Greece) 2016 Jan 15(1) 8-14
• Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.
  Mickiewicz Agnieszka, et al. Atherosclerosis 2016 3 52-58
• Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community.
  Andersen Lars et al. Journal of clinical lipidology 10(2) 443-4
• Examining barriers to cascade screening for familial hypercholesterolemia in the United States.
  Andersen Rolf et al. Journal of clinical lipidology 10(2) 225-7
• LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design.
  Blom Dirk J et al. Journal of clinical lipidology 10(2) 273-82
• Prevalence of heterozygous familial hypercholesterolaemia and its impact on long-term prognosis in patients with very early ST-segment elevation myocardial infarction in the era of statins.
  Rallidis Loukianos S et al. Atherosclerosis 2016 Mar 24917-21
• Heterozygous Familial Hypercholesterolemia
  A Onorato et al, Circulation, March 2016
• Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Patients with Severe Hypercholesterolemia.
  Khera Amit V, et al. Journal of the American College of Cardiology 2016 3
• Examining barriers to cascade screening for familial hypercholesterolemia in the United States 
  R Andersen et al, J Clin Lipidology, April 2016
• Examining barriers to cascade screening for familial hypercholesterolemia in the United States
  Andersen R, et al. Journal of Clinical Lipidology 2016 Mar-Apr
• Surprising Findings in Genetic Analysis of Familial Hypercholesterolemia Patients,
  HPCLive, April 3, 2016
• Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia.
  Besseling Joost et al. European heart journal 2016 Apr
• Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up.
  Perez de Isla Leopoldo et al. Journal of the American College of Cardiology 2016 Mar (11) 1278-85
• Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study.
  Raal Frederick J, et al. Atherosclerosis 2016 3

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB