{"id":"W2410774145","doi":"10.1016/j.jacc.2016.03.520","title":"Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia","year":2016,"lang":"en","type":"article","venue":"Journal of the American College of Cardiology","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":939,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institute on Aging; Medical Research Council; National Institute for Health and Care Research; British Heart Foundation; Wellcome Trust","keywords":"Familial hypercholesterolemia; Medicine; Internal medicine; Missense mutation; Coronary artery disease; Cholesterol; PCSK9; Odds ratio; LDL receptor; Cohort; Apolipoprotein B; Endocrinology; Gastroenterology; Mutation; Lipoprotein; Genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02075664226208306,"score_gpt":0.2727990526312929,"score_spread":0.2520424103692099,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}