{"id":"W2015492211","doi":"10.1016/j.ejmg.2012.07.010","title":"Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies","year":2012,"lang":"en","type":"review","venue":"European Journal of Medical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Ciliopathy; Ciliopathies; Bicuspid aortic valve; Joubert syndrome; Medicine; Cardiology; Internal medicine; Stenosis; Cilium; Aortic valve stenosis; Phenotype; Genetics","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003056026,0.000674132,0.001298955,0.003312971,0.0002158134,0.0005904228,0.0009045562,0.001062999,0.0009013471],"category_scores_gemma":[0.0005689974,0.0002614656,0.0004281295,0.001880645,0.0004431143,0.000905944,0.0005566693,0.0008451287,0.0005410433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002282919,"about_ca_system_score_gemma":0.0006513033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007808916,"about_ca_topic_score_gemma":0.002008364,"domain_scores_codex":[0.9997858,0.00002533168,0.00006226659,0.00003854392,0.00006906549,0.0000190475],"domain_scores_gemma":[0.9996624,0.0001812566,0.00007088017,0.000008719269,0.0000401277,0.00003654909],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0000993061,0.00007195997,0.002722365,0.01141294,0.0002313185,0.03562288,0.0001773662,0.0003745718,0.006237937,0.001334976,0.02277566,0.9189387],"study_design_scores_gemma":[0.00004051636,0.0001391288,0.01034029,0.004692057,0.0006029092,0.3842199,0.0003569204,0.000249259,0.002291619,0.001498181,0.595489,0.00008017979],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001265774,0.9972523,0.0002695651,0.0002492737,0.0001586297,0.000003369056,0.00002501831,0.0000106041,0.0007654956],"genre_scores_gemma":[0.004898084,0.9932286,0.0006069486,0.0002529445,0.0003670924,0.000003975164,0.00007178607,0.000003065711,0.0005674681],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003312971,"threshold_uncertainty_score":0.00301528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01619790042665524,"score_gpt":0.2806041341978414,"score_spread":0.2644062337711862,"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."}}