{"id":"W2082724695","doi":"10.1016/j.ejmg.2012.09.011","title":"A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?","year":2012,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Hospital for Sick Children","keywords":"Microcephaly; Comparative genomic hybridization; Medicine; Pediatrics; Chromosome; Genetics; Cardiology; Internal medicine; Biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002581243,0.001113623,0.00106225,0.001290955,0.00100338,0.0006594933,0.0007878743,0.003613399,0.001667015],"category_scores_gemma":[0.003021053,0.0004771065,0.0005551566,0.0007510322,0.001040666,0.0008641165,0.0005670048,0.001734081,0.000463171],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007741337,"about_ca_system_score_gemma":0.0008032577,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004005628,"about_ca_topic_score_gemma":0.003398518,"domain_scores_codex":[0.9996794,0.00003786976,0.00004499208,0.00007093047,0.0000758304,0.00009087862],"domain_scores_gemma":[0.9991762,0.0002935202,0.0001594813,0.00003625049,0.00005866396,0.0002757992],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00004440627,0.00001521611,0.005091265,0.00001701503,0.000005103943,0.9918464,0.0001139263,0.00004201295,0.001100479,0.0001182403,0.0002169923,0.001388904],"study_design_scores_gemma":[0.000005865121,0.00008432748,0.00880469,0.00002099407,0.00001492726,0.9894478,0.0001663624,0.0001261917,0.0006955665,0.0002106964,0.0004100157,0.00001250041],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9763565,0.003410047,0.001764375,0.009530462,0.000769336,0.00009690862,0.0003991666,0.0001591025,0.007514044],"genre_scores_gemma":[0.9933882,0.001920595,0.001371667,0.001375002,0.000428228,0.00001887696,0.0001082037,0.00002632964,0.001362867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004005628,"threshold_uncertainty_score":0.007964671,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007648876899793649,"score_gpt":0.2407202248408669,"score_spread":0.2330713479410733,"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."}}